C H A P T E R 3 5 
Disorders Lori A. Karol
of the Brain
Chapter Outline
Levels of Involvement
Cerebral Palsy
Rett Syndrome
Hereditary Spastic Paraparesis
Ataxia Syndromes
Levels of Involvement
The neuromuscular system may be affected at various
levels, each of which is characterized by changes in motor
function peculiar to the site and extent of involvement.1
The differential features of various levels of motor function
are illustrated in Table 35-1.
Spinomuscular Level. At the spinomuscular level, motor
activity is simple; impulses arising in the anterior horn cells
of the spinal cord are transmitted through peripheral nerves
to myoneural junctions and then to individual muscles. In
disorders at the spinomuscular level, the loss of motor
power is focal and segmental, with complete paralysis of
the muscles or muscle groups that are supplied by a periph-
eral nerve or by the anterior horn cells in the spinal cord.
Muscular paralysis is flaccid or hypotonic, and degeneration,
atrophy, fibrillations, and fasciculations are typical findings.
The deep tendon and superficial reflexes are diminished or
absent. Pyramidal tract signs, abnormal involuntary move-
ments, and ataxia are absent. Trophic changes may be seen
in the skin, nails, and bone.
Spinal Level. Pathologic processes at the spinomuscular
level may be further classified into various sublevels. When
the disease originates in the anterior horn cells, as in polio-
myelitis, the spinal level of the motor system is affected.
Other examples of diseases at the spinal level are progres-
sive spinal muscular atrophy of the Werdnig-Hoffmann
type, progressive bulbar palsy, syringomyelia, and intramed-
ullary neoplasm. Loss of function of the anterior horn cells
or the motor nuclei of the brainstem results in clinical find-
ings of flaccid paralysis, atrophy, areflexia, degeneration, and
fasciculations.
Neural Level. At the neural level of the motor system,
the peripheral nerves and nerve roots are affected, as in
obstetric brachial plexus palsy and progressive neuromuscu-
lar atrophy (Charcot-Marie-Tooth disease). In processes
affecting nerves, the sensory fibers are usually involved,
with resultant sensory changes such as anesthesia or hyper-
esthesia. Otherwise, the clinical findings are similar to those
of involvement of the spinal level; that is, flaccid paralysis,
atrophy, degeneration, and areflexia develop as a result of
e2
loss of conduction of motor impulses. In the absence of
sensory changes, it is difficult to distinguish between dis-
eases of the peripheral nerves, anterior roots, and anterior
horn cells.
Myoneural Level. If the pathologic process arises at the
myoneural junction, as in myasthenia gravis and familial
periodic paralysis, it is a disease at the myoneural level. In
diseases of primarily muscular origin, the motor system is
involved at the muscular level. The muscular dystrophies
are familiar examples of disturbance at the muscular level
in diseases with spinomuscular involvement. The paralysis
is flaccid, but reflexes persist until the late stages, when
marked atrophy has already occurred. Contractility is lost
but not excitability; that is, the muscle fibers have degener-
ated and have been replaced by fibroadipose tissue, but the
peripheral nerves and anterior horn cells are normal.
Extrapyramidal Level. Disorders of the motor system at
the extrapyramidal level are characterized by generalized
involvement of the muscles of the limbs and trunk. Muscle
tone is hypertonic. Atrophy, fasciculations, and degenera-
tion are absent. Motion of the limbs is hyperkinetic, with
loss of associated or automatic movements. The deep
tendon and superficial reflexes are normal. No pyramidal
tract responses or sensory deficits are present. Athetoid
cerebral palsy (CP) is a common example of a disease at
the extrapyramidal level.
Pyramidal (Corticospinal) Level. At the pyramidal or cor-
ticospinal level, motor deficit arises from involvement of
motor nuclei of the cerebral cortex. The paresis is usually
generalized and associated with hypertonicity or spasticity
of muscles. Pyramidal tract signs and pathologic reflexes are
generally present. Usually some atrophy that is not focal is
present; it is caused by chronic paralysis and disuse. Fascicu-
lations, trophic disturbances, degeneration, and abnormal
movements are absent. The deep tendon reflexes are hyper-
active, and the superficial reflexes are diminished or absent.
Spastic CP illustrates the pyramidal level of motor
involvement.
Cerebellar Level. Lesions at the cerebellar level are charac-
terized by loss of coordination and control, or ataxia. No
real loss of motor power occurs. Fasciculations, degenera-
tion, atrophy, and trophic disturbances are absent. The deep
tendon reflexes may be diminished, but the superficial
reflexes are normal.
Reference
Levels of Involvement
1. Tachdjian MO: Pediatric orthopaedics, ed 2, Philadelphia, 1990,
Saunders.
 CHAPTER 35  Disorders of the Brain e3

Table 35-1  Differentiation of Motor Disorders at Various Levels of Neuromuscular Function

Spinomuscular
Type of
Disturbance Muscular Neural Spinal Extrapyramidal Pyramidal Cerebellar

Loss of motor Focal-segmental Focal-segmental Focal-segmental Generalized Generalized None

power Usually Usually distal Usually distal Entire limb and Entire limb and Ataxia may
proximal limb limb movements movements simulate
and axial musculature musculature Incomplete Incomplete loss of
muscle Complete Complete power
groups
Complete
Tone Flaccid Flaccid Flaccid Rigid Spastic Hypotonic
(ataxia)
Atrophy Present Present Present Absent Minimal Absent
(caused by
disuse and
chronic
paresis)
Fasciculations May be present Absent May be present Absent Absent Absent
Reaction of Present Present Present Absent Absent Absent
degeneration
Reflexes
  Deep Diminished and Absent early Absent early Normal or Hyperactive Diminished or
preserved variable pendular
until late
  Superficial Diminished Absent Absent Normal or Diminished or Normal
increased absent
Sensory deficit Absent Usually present Absent Absent May be Absent
present
Trophic Present Present Present Absent Usually absent Absent
disturbance
Ataxia Absent Absent Absent Absent Absent Present
Abnormal Absent Absent Absent Present Absent May be present
movements (intention
tremor and
ataxia)

Adapted from DeJong RN: The neurological examination, ed 3, New York, 1967, Harper & Row, p 382; and Farmer TW: Pediatric neurology, New
York, 1964, Harper & Row, p 612.

• CP is the result of a brain lesion; therefore, the spinal

Cerebral Palsy
Definition
CP was first described by William Little in 1862.351 Little
correlated the findings seen in young children with CP and
associated them with difficult births. The term cerebral
palsy originated with Freud.202 Static encephalopathy has
been used interchangeably with cerebral palsy.
A succinct and accurate definition of CP is difficult to
construct because of wide variability in the manifestations
of CP.52,423 In 2008 CP was proposed as “a group of perma-
nent disorders of the development of movement and
posture, causing activity limitation, that are attributed to
non-progressive disturbances that occurred in the develop-
ing fetal or infant brain.”448 In all cases, the following must
be true:
cord and muscles are structurally and biochemically
normal.
• The brain lesion must be fixed and nonprogressive. Thus,
all the progressive neurodegenerative disorders are
excluded from the definition.
• The abnormality of the brain results in motor
impairment.
The insult to the brain may occur prenatally, perinatally,
or during childhood. Although older children with brain
damage were traditionally excluded from the definition, this
is not clinically relevant from an orthopaedic standpoint.
Certainly, any orthopaedist caring for a child who has sus-
tained an anoxic injury after nearly drowning or who is
spastic after infectious meningitis would argue that these
slightly older children functionally have CP.
e4 SECTION VI  Neuromuscular Disorders
The clinical manifestations of CP depend on which part
and how much of the brain are involved. The range of
manifestations is huge, with both a young child who is intel-
lectually bright but walks on his toes and a noncommunica-
tive wheelchair-bound child with seizures meeting the
aforementioned definition of CP.
The orthopaedic surgeon is consulted by a pediatrician
or family for management of the musculoskeletal problems
that follow from the underlying brain lesion. It is of utmost
importance for the orthopaedist to evaluate the child thor-
oughly to ascertain why the child has CP. If the child was
born full-term, if no perinatal medical problems were noted,
and especially if the child began to develop normally and
then regressed, prompt neurologic consultation must be
sought. The neurologist will differentiate CP from such
dangerous entities as brain and spinal cord tumors, meta-
bolic encephalopathies, and progressive neurodegenerative
diseases, some of which are treatable.
Epidemiology
The incidence of CP is increasing slightly.63 In recent reports
the incidence has been estimated to be between 2.4 and 2.7
per 1000 live births.86,419,443,534 The prevalence of CP appears
to be increasing secondary to an increase in the number of
infants with very low birth weight being born and the
increased survival of these tiny neonates, whereas the rate
of CP in infants of a given birth weight has remained
stable.332,423,428,451,480 This increase in incidence is of concern
because the economic impact of CP is considerable, with
the cost per case estimated at $503,000 in 1992.109 The
risk for CP in a child born full-term is approximately 1
in 2000.534 The incidence of CP has been correlated with
both gestational age and birth weight.250 CP was diagnosed
in 12.3% of infants born at between 24 and 33 weeks of
gestation.604 Approximately 50% of children with CP have
low birth weight, and 28% weigh less than 1500 g at
birth.135,481 The prevalence of birth weight–specific CP
ranges from 1.1 per 1000 neonatal survivors weighing
2500 g or more to 78.1 per 1000 infants weighing less than
1000 g.480
The incidence of CP is increased with multiple births.
In more recent studies of multiple births the incidence of
CP is 9 to 12 per 1000 in twins, 31 to 45 per 1000 in
triplets, and 111 per 1000 in quadruplets.239,479,690 The pre-
disposition to CP in twin pregnancies is present even when
controlling for birth weight and gestational age.678 The risk
for CP is high for a surviving twin when the other twin dies
in utero.478,479
Etiology
Prenatal
The brain of the fetus is susceptible to damage from mater-
nal infections and toxins. The TORCHES group of infec-
tions (toxoplasmosis, rubella, cytomegalovirus, herpes, and
syphilis) is known to cause significant damage to the devel-
oping brain of the fetus, and such damage leads to very
neurologically involved infants with mental retardation,
microcephaly, and seizures. Orthopaedic deformities are
noted in 82% of these children.351
Fetal exposure to drugs and alcohol through maternal use
can also result in injury to the developing brain. Unfortu-
nately, this problem is being seen more frequently in
newborn nurseries. Cocaine, heroin, and marijuana can all
cross the placental barrier and cause damage to the central
nervous system of the fetus.
Congenital malformations of the brain that occur during
early pregnancy often result in severe CP. It has been
stated that approximately 10% of patients with CP have
congenital brain malformations that are apparent on
neuroimaging.326
Rhesus blood group incompatibility resulting in kernic-
terus as a cause of CP is decreasing in incidence with
improvements in prenatal care. RhoGAM treatment of
Rh-negative mothers has led to a decline in kernicterus,
which often resulted in the development of such movement
disorders as athetoid CP.
Maternal health problems, such as renal failure or infec-
tions, can lead to problems with brain development in the
fetus.487 Prenatal chorioamnionitis and maternal infection
have been associated with an increased risk for premature
onset of labor and CP in the infant.25,421,449,450 Placental
abnormalities have been linked with a higher frequency
of CP.137
Fetal biophysical profile scores are prenatal noninvasive
tests used to monitor the health of the developing fetus.
These scores are often obtained in high-risk pregnancies.
Abnormally low fetal biophysical profile scores are thought
to result from antenatal hypoxia and have been associated
with an increased incidence of CP.372
Perinatal
Anoxia as a result of perinatal complications may lead to
the development of CP. A tight nuchal cord430 or placental
abruption605 can lead to anoxia and thus result in CP. Fetal
hypoxia may be detected by fetal heart rate monitoring, but
changes consistent with hypoxia, such as late deceleration
of the heart rate with uterine contractions, are common and
not specific.429 The frequency of CP associated with birth
asphyxia is estimated to be 1 in 3700 full-term live births.692
Fetal distress during delivery has been documented in
some children with CP.204 The mode of delivery—vaginal or
cesarean—has not been found to influence the incidence
of CP.565
Premature delivery, either from premature onset of labor
or from premature rupture of membranes, is commonly
associated with CP.144
Sepsis in the neonatal period can predispose to the
development of CP in a low–birth weight infant.679 Bron-
chopulmonary dysplasia and prolonged ventilation in
preterm infants may result in hypoxia, which predisposes
the infant to CP.20,234,420 Extracorporeal membrane oxygen-
ation (ECMO) has been used to sustain babies with severe
cardiorespiratory failure. CP has been diagnosed in up
to 20% of surviving children who were treated with
ECMO.233
Cardiac surgery for the treatment of severe congenital
heart disease has been linked with an increased incidence
of CP. Heart surgery before the age of 1 month resulted in
CP in 25% of infants.400 Clearly, these children are quite ill,
with an increased risk for hypoxia, sepsis, and prolonged
ventilation.

Postnatal
Infections such as meningitis in early childhood can lead to
CP. Any episode of hypoxia, such as cardiopulmonary arrest,
near-drowning, and suffocation, can also produce brain
damage leading to CP.7 Trauma, such as motor vehicle acci-
dents producing head injury, severe falls, and child abuse,
may result in CP as well.
Classification
Physiologic
The first classification is physiologic and describes the type
of movement disorder present. The most common move-
ment abnormality is spasticity. Spasticity results from
damage to the pyramidal system, particularly the motor
cortex in the brain. Disinhibition of pathologic reflex arcs
leads to increased tone in the extremities. The tone is
dependent on velocity, which means that if a muscle is
stretched rapidly, tone increases more than if the same
muscle group were stretched gradually and gently.
Hypotonia is, as its name implies, abnormally decreased
tone. Infants with CP are often described as floppy or
hypotonic. Hypotonia is usually a phase and most frequently
leads to spasticity as the infant matures.
Dystonia is described as increased tone, which is not
dependent on velocity. Whereas tone in spasticity is
described as “clasped knife,” tone in dystonic CP is described
as “lead pipe,” which means that tone does not decrease
with gentle prolonged stretching.
Athetosis is characterized by abnormal writhing move-
ments that the patient cannot control. The movements
become more exaggerated as the patient tries to complete
a purposeful motion. Athetosis results from damage to the
basal ganglia. Speech is often garbled and difficult to under-
stand, yet affected patients may be intelligent. Athetosis has
frequently been the result of neonatal kernicterus.201
Cerebellar lesions lead to ataxic CP. The disturbed
balance of these children results in a wide-based and clumsy
gait. Pure ataxic CP is rare.
Patients with CP frequently have a mixed form of move-
ment disorder. It is important to correctly classify the
movement disorder of a patient with CP because the results
of surgical treatment are unpredictable for all but purely
spastic patients.
Geographic
The second classification system is geographic and describes
what part of the body is affected by CP. Hemiplegia is
present when only one side of the body is involved, with
the upper extremity usually more involved than the lower
extremity (Fig. 35-1). Patients with spastic hemiplegia can
be further divided by their degree of gait impairment.
Winters and colleagues subdivided patients with spastic
hemiplegia into four groups: (1) loss of swing-phase ankle
dorsiflexion (i.e., footdrop) but stance-phase dorsiflexion
present; (2) loss of stance- and swing-phase ankle dorsiflex-
ion (equinus) and possible knee hyperextension in stance
phase; (3) ankle involvement plus increased stance-phase
knee flexion with limited range of knee motion; and
(4) ankle, knee, and hip involvement with increased stance-
phase hip flexion and limited range of hip motion.682
CHAPTER 35  Disorders of the Brain e5
FIGURE 35-1  A 7-year, 6-month-old girl with left hemiparesis.
Note the posturing of the left upper extremity in flexion and the
relative atrophy of the calf.
Diplegia implies involvement of both sides of the body,
with both lower extremities being involved (though not
always symmetrically) and lesser involvement of the upper
extremities (Fig. 35-2). A word of caution is needed. If the
patient has abnormal tone in both lower extremities but the
upper extremities are completely normal, the examiner
should beware. Patients with diplegia will have some abnor-
mality in the upper extremities, such as decreased fine
motor control, spasticity, or increased reflexes. If the upper
extremities are normal, it is imperative to evaluate the
spinal cord. Spinal cord pathology, including tumor, may
masquerade as CP.
Involvement of both lower extremities and one upper
extremity is termed triplegia. Quadriplegia, or total body
involvement, is present when all four extremities are
severely involved, with poor trunk control as well (Fig.
35-3). Clinicians often disagree over the difference between
severe diplegia and quadriplegia.423
Familial spastic paraparesis, a genetic neurologic disease,
may resemble CP in that both lower extremities are spastic
yet the upper extremities are normal. Various forms of the
disease exist, and a history of other affected family members
is helpful.
Functional
Current emphasis is on classifying patients with CP by
functional level (Fig. 35-4). The Gross Motor and Func-
tional Classification System (GMFCS) is most commonly
used to describe the patient’s level of function before and
after an intervention.535 The GMFCS scale has five levels.
GMFCS 1 describes a patient who ambulates without aids
on all surfaces and keeps up with peers. In GMFCS 2, the
patient is fully ambulatory, may use lower extremity ortho-
ses, and does not keep up fully with peers. At GMFCS 3,
the patient uses ambulatory aids such as a walker or crutches
and may use a wheelchair for longer distances. GMFCS 4
describes nonambulatory patients who are able to propel
e6 SECTION VI  Neuromuscular Disorders
B Likewise, dragging one leg when crawling or scooting may
FIGURE 35-2  A and B, Five-year-old girl with spastic diplegia. She
walks with the aid of a walker and bilateral ankle–foot orthoses.
their own wheelchair, whereas GMFCS 5 indicates an
inability to transfer, propel a wheelchair, or support the
trunk. A comprehensive review of nine CP registries
throughout the world revealed the following proportion of
GMFCS levels: level 1, 34.2%; level 2, 25.6%; level 3,
11.5%; level 4, 13.7%, and level 5, 15.6% .505 Because levels
1 and 2 are considered lesser involvement, most patients
are mildly involved, although more severely involved
children are more apparent in a pediatric orthopaedic
practice.
FIGURE 35-3  Fifteen-year-old girl with spastic quadriplegia.
Evaluation
History
The first step in the evaluation of a child with CP is to
obtain a complete history, especially the birth history. Birth
weight, gestational age, complications, and whether the
child required ventilator assistance or hospitalization in the
neonatal intensive care unit are important data. If the birth
history is normal, neurologic consultation should be consid-
ered. Evaluation of motor milestones will reveal delayed
development. Head control should be present at 3 to 6
months, sitting by 6 to 9 months, crawling by 9 months,
standing and cruising by 10 to 12 months, and walking
between 12 and 18 months. Adjustments for prematurity
should be made; a premature child may not walk by 15
months of age. Preferential use of one hand or leg and early
handedness, particularly left-handedness in small infants,
are often clues that spastic hemiparesis may be present.
also be an indication of hemiparesis. Ascertaining whether
the child has other problems, such as strabismus, difficulty
swallowing, frequent choking, delayed speech development,
poor eyesight, and seizures, is important. Some 20% to 40%
of children with CP have seizures, most common in hemi-
plegic and quadriplegic patients.13,247,333,443 These observa-
tions may all be clues leading to the diagnosis of CP.
Physical Examination
Muscle Tone
Physical examination of a child with CP should include
muscle tone in the extremities. With the patient relaxed
(even sitting on the lap of a parent), the extremities are
brought through a full range of motion. Spasticity feels like
 CHAPTER 35  Disorders of the Brain e7

Level 1 Level 2

Level 3 Level 4 Level 5

FIGURE 35-4  Gross Motor and Functional Classification System. Level 1: Children walk without limitations and can run and jump, but
speed and coordination are reduced. Level 2: Walk without aids indoors and with assistive mobility devices such as crutches, walkers, and/
or orthotics. Level 3: Walk indoors and outdoors with assistive mobility devices such as crutches, walkers, and/or orthotics. Level 4: Rely on
a wheelchair for most mobility. Children may have a very limited ability to take steps but are not functionally ambulatory. Level 5: No
independent mobility and unable to maintain an upright trunk without support.

tightness in the muscles, which become tighter the quicker
the limbs are passively moved. Greater range of motion can
be gained by slowly and gently stretching the joints in ques-
tion. The Tardieu test is a measure of spasticity. For example,
if the examiner is assessing hamstring spasticity, the angle
at which a “grab” of resistance occurs when quickly extend-
ing the knee with the hip in flexion is compared with the
amount of extension possible when the knee is stretched
slowly.639
Fine motor activities should be assessed. Passing the
child a toy or a pen often reveals spastic hemiplegia in one
extremity. Having the child clap the hands or wiggle the
fingers may reveal difficulties in fine motor control.
Reflexes
Deep tendon reflexes are increased in patients with CP.
Repetitive tapping of the deep tendons or quick passive
dorsiflexion of the ankle may produce clonus, which estab-
lishes the presence of an upper motoneuron neurologic
abnormality. In hemiparesis, reflexes will be asymmetric.
Infantile reflexes disappear in normal children by 3 to 6
months of age as the motor cortex matures; however, they
are retained in children with CP.66 Bleck’s textbook on CP
outlines these reflexes in clear detail.72 The startle reflex,
or the Moro reflex, which should disappear by 4 months of
age, is elicited by letting the infant’s head drop back into
extension with the infant supine but slightly elevated. This
causes the legs and arms to extend abruptly. A sudden loud
noise can likewise cause an older child to extend and lurch
from a wheelchair. The parachute reflex is tested by holding
the child in the air and then lowering him quickly headfirst
toward the examining table. Children older than 5 months
will reach out with both arms to protect themselves. Chil-
dren with CP cannot do so, and those with hemiplegia will
reach out with only one arm.
The tonic neck reflex is elicited by turning the supine
infant’s head to one side. The ipsilateral arm and leg will
extend while the contralateral arm and leg flex. This reflex
should disappear in infancy; persistence should raise suspi-
cion for CP.
Balance, Sitting, and Gait
Balance, sitting, and gait are assessed by noting whether the
child can sit unsupported without use of hands or get into
a sitting position without assistance or whether balance is
easily disturbed in the sitting position or as the child walks.
e8 SECTION VI  Neuromuscular Disorders
Clinical assessment of gait requires that the child’s joints
be readily seen, so the child should be barefoot and in shorts
or a short gown. The evaluation should be conducted with
the examiner seated on a stool at the level of the child.
Enough room should be available for the child to walk natu-
rally. Heel-to-toe walking, hopping on either foot, and
running are observed. A patient with mild hemiplegia may
walk nearly normally but exhibit abnormal movement pat-
terns while running; the affected upper extremity will draw
upward and not have a normal arm swing.
Gait should be observed from the front of the child and
then from the side, and the hips, knees, and ankles should
be systematically assessed from each perspective. A
crouched gait consisting of increased flexion at the hip and
knee, toe-walking with genu recurvatum, or a footdrop in
the swing phase of gait may all be indicative of CP. Distur-
bance in clearance of the swing-phase limb may be caused
by footdrop or an inability to flex the knee.
Other Assessments
Rarely are imaging studies ordered by orthopaedic surgeons
when establishing the diagnosis of CP. If questions persist
regarding a correct diagnosis, referral to a pediatric neurolo-
gist is indicated. At the neurologist’s discretion, imaging
studies such as cranial ultrasonography, brain magnetic reso-
nance imaging (MRI), and computed tomography (CT) may
be pursued.322 Similarly, laboratory studies may be neces-
sary to look for evidence of metabolic diseases associated
with delays in development and CP-like symptoms, such as
congenital hypothyroidism or dopa-responsive dystonia. A
detailed discussion of these metabolic conditions is beyond
the scope of this chapter, however.
Histopathologic and Imaging Findings
Two findings frequently described on histopathologic exam-
ination or imaging studies of the brain in children with CP
are periventricular leukomalacia and intraventricular and
periventricular hemorrhage. Periventricular leukomalacia is
defined as patchy areas of necrosis in the periventricular
white matter adjacent to the lateral ventricles. It results
from an ischemic insult to the arterial watershed area close
to the ventricular walls. Pyramidal tract fibers mapping to
the lower extremities pass through this area and are there-
fore more susceptible to injury than fibers responsible for
the upper extremities and face. The bigger the lesion, the
more fibers that are injured and the greater the proportion
of the body that is affected by CP.65
The areas of the brain immediately adjacent to the
ventricles are also most susceptible to hemorrhage. Hem-
orrhage may be seen on ultrasound, MRI, or CT. Mild
hemorrhages involve the germinal matrix adjacent to the
ventricles, whereas more severe hemorrhages extend into
the ventricles themselves and into the parenchyma of
the brain. Hypoxia is known to predispose to periven-
tricular and intraventricular hemorrhage.65 Approximately
one half of preterm infants with CP are found to have
abnormalities on neuroimaging, such as echolucency in
the periventricular white matter or ventricular enlarge-
ment on cranial ultrasound. In children with CP born
at or near term, about two thirds have abnormalities on
neuroimaging, including focal infarction, malformations,
and periventricular leukomalacia.448
Gait Analysis
Gait analysis has become popular in the assessment of
movement disorders in children with CP, but the usefulness
of such studies is controversial. Accurate documentation of
dynamic range of motion may help in planning surgical
treatment and assessing the results of orthopaedic opera-
tions, but it does not replace a good clinical examination.
When gait analysis graphs are scrutinized together with
information from the clinical examination and slow-motion
videotape, better understanding of a patient’s gait can be
gained.151 A detailed discussion of gait analysis can be found
in Chapter 5. The Functional Mobility Scale is a question-
naire that assesses the child’s ambulatory ability at 5 m
(within the home), 50 m (short distances), and 500 m
(community ambulation) and should be considered in con-
junction with gait analysis in surgical decision making.229,230
Cadence. Cadence parameters include walking speed, step
length, number of steps per minute, and the proportion
of time spent in stance and swing phases. Patients with
CP usually have disturbances in cadence parameters. In
good walkers with spastic diplegia, walking velocity is main-
tained despite decreased step length by increasing cadence
(quick, short steps). Good walkers with CP increase their
speed by increasing cadence, but spasticity interferes with
increasing step length.4 In those with more severe diplegia
and quadriplegia, walking speed is diminished, with
decreased cadence and step length. The proportion of time
spent in stance phase, particularly double-limb stance,
increases because the child has greater difficulty with
balance and advancing the limb. Children with hemiplegia
show asymmetry in step length and in single- and double-
support time.437
Kinematics. Certain kinematic patterns are seen in patients
with CP.158,208,280,629,682,683 In the hip, scissoring, which is
caused by tightness in the adductor musculature and, in
part, by weakness of the hip abductors, leads to a narrow
base of gait and difficulty advancing the swing-phase limb
past the stance-phase limb (Fig. 35-5). In the sagittal plane,
increased hip flexion and anterior pelvic tilt may be part of
crouch gait as a result of increased tone in the iliopsoas (Fig.
35-6). Increased femoral anteversion may be documented
by gait analysis as increased internal rotation of the hips.
Asymmetric pelvic rotation may be present, and gait analy-
sis is particularly helpful when the examiner is trying to
ascertain whether the abnormal rotation is originating from
the pelvis, hips, or tibiae (Fig. 35-7).158
At the knee, sagittal-plane motion is usually abnormal.
In patients with tight hamstrings, the knee remains flexed
at initial contact and is unable to extend normally during
stance phase. In swing phase, spasticity of the rectus femoris
may inhibit the patient’s ability to flex the knee and clear
the floor (Fig. 35-8). Genu recurvatum during stance phase
may be present in response to a tight Achilles tendon, which
causes difficulty advancing the tibia forward over the foot.
Ankle kinematics often shows disturbances in plantar
flexion, dorsiflexion, and push-off. Plantar flexion on weight
acceptance is generally abnormal in patients with equinus
contractures. Dorsiflexion during midstance is diminished
in the presence of a tight Achilles tendon, and push-off is
 CHAPTER 35  Disorders of the Brain e9

Hip abduction/adduction Pelvic rotation

30 45

30

Internal
Adduction 20
15
10

Degrees
Degrees

0
0

External
–15
Abduction

–10
–30
–20
–45

–30 Hip rotation

0 25 50 75 100 45
Stance phase Swing phase
30

Internal
Percentage of gait cycle
FIGURE 35-5  In normal gait (black dotted curve), the hip adducts 15

Degrees
slightly in stance phase as the contralateral hemipelvis drops,
0
and it abducts slightly in swing phase. In patients with scissoring
as a result of cerebral palsy (red curve), adduction of the hip is

External
–15
increased. Vertical lines designate divisions between the stance and
swing phases for each leg.
–30

–45

Foot progression
60

Internal
Pelvic tilt 30
40
Degrees

0
30
External
Anterior

20 –30
Degrees

10
–60

0 Shank–based foot rotation

Post.

60
–10
Internal

Hip flexion 30
Degrees

80

0
60
External
Flexion

40
Degrees

–30

20
–60
Stance phase Swing phase
0
FIGURE 35-7  Transverse-plane kinematics is useful in determining
Ext.

the cause of intoeing or outtoeing in cerebral palsy. In this

–20
Stance phase
FIGURE 35-6  Normal kinematics for pelvic tilt and hip sagittal-
plane motion is represented by the black dotted curve. Patients
with cerebral palsy (red curve is the right side, blue dotted curve
is the left side) may crouch at the hip joint, which is represented
on gait analysis as increased anterior pelvic tilt and lack of hip
extension at terminal stance phase. Vertical lines designate
divisions between the stance and swing phases for each leg.
hemiplegic patient, the involved hemipelvis is characteristically
Swing phase externally rotated (red curves), excessive femoral anteversion is
present, and the foot is internally rotated relative to the knee
because of equinovarus deformity of the foot. This results in a foot
progression angle of 40 degrees internally. The uninvolved side is
represented by the blue dotted curves, and normal transverse-plane
kinematics is represented by the black dotted curves. Vertical lines
designate divisions between the stance and swing phases for
each leg.
e10 SECTION VI  Neuromuscular Disorders

Knee flexion 132 Rectus femoris

90
mV

150 Vastus medialis

mV
Flexion
Degrees

66 Med. hamstrings

mV

154 Tibialis anterior

Ext.

–15 mV
0 25 50 75 100
Stance phase Swing phase 85.1 Gastrocnemius
Percentage of gait cycle
mV
FIGURE 35-8  Crouch at the knee in a diplegic patient (red curve is
the right knee, blue dotted curve is the left knee) is documented as 252 Rectus femoris
increased knee flexion throughout stance phase. As the leg enters
swing phase, the knee slowly flexes and reaches maximal flexion mV
later than in the normal gait (black dotted curve) because of rectus
femoris spasticity, which interferes with clearing of the foot as it 244 Vastus medialis
swings forward. Vertical lines designate divisions between the
stance and swing phases for each leg. mV

73.4 Med. hamstrings

Ankle flexion
mV
45

158 Tibialis anterior

Dorsal

mV
Degrees

172 Gastrocnemius

mV
Plantar

0 10 20 30 40 50 60 70 80 90 100
Percentage of gait cycle

–60 FIGURE 35-10  Typical electromyographic pattern during gait in a

0 25 50 75
Stance phase Swing phase
Percentage of gait cycle
FIGURE 35-9  Sagittal-plane kinematics of a patient with cerebral
palsy who has bilateral equinus (red curve is the right side, blue
dotted curve is the left side). The ankle remains in plantar flexion
during stance phase rather than progressively dorsiflexing, as in
the normal second rocker (black dotted curve). Vertical lines
designate divisions between the stance and swing phases for
each leg.
reduced if the ankle is already plantar-flexed from the
equinus. Swing-phase dorsiflexion may be absent as a result
of weakness or inactivity of the tibialis anterior and lead to
footdrop (Fig. 35-9).
Gait analysis is particularly useful in assessing the cause
of toe-walking. It is tempting to attribute all toe-walking to
tight Achilles tendons; however, some children walk on
their toes in response to crouch above the ankle and have
neutral ankle dorsiflexion but increased flexion at the knee
and hip. Lengthening of the Achilles tendon in these chil-
dren would result in a calcaneus gait, with persistent crouch
100 child with cerebral palsy. The horizontal bars represent the
situation in which a muscle is normally “on.” Stance phase is
represented from 0 to 60 and swing phase from 60 to 100.
Contraction of all muscles is inappropriate during gait.
at the hip and knee but excessive dorsiflexion at the ankle
leading to inefficient push-off.
Electromyography. Spasticity leads to electrical overactivity
on electromyography (EMG) during gait, and it seems that
the more spastic the child, the greater the EMG signal and
the less phasic the muscles in their contraction (Fig. 35-10).
Dynamic EMG data collected during gait analysis can be
correlated with kinematic and kinetic graphs to gain a fuller
understanding of the biomechanics of the child’s gait.470 For
example, normally at initial contact, the ankle plantar-flexes
while the anterior tibialis fires on the EMG. Kinetic plots
show absorption of power as weight acceptance occurs. In
stance phase a child with CP may exhibit early heel rise,
seen as plantar flexion on kinematic plots, which correlates
with gastrocsoleus overactivity on EMG. We find data
from EMG most useful when evaluating a child with a stiff

Hip power
3
Generation
2
1
Watts/kg
Absorption
–1
–2
0 25 50 75
Stance phase Swing phase
Percentage of gait cycle
FIGURE 35-11  A normal hip generates power at terminal stance
phase as the iliopsoas pulls the leg off the ground (black dotted
curve). In patients with cerebral palsy (red curve is the right side,
blue dotted curve is the left side), hip kinetics can be disturbed.
This patient generates little power at terminal stance phase and
is therefore less efficient. Vertical lines designate divisions between
the stance and swing phases for each leg.
knee in swing phase for rectus femoris transfer and when
assessing a child with an equinovarus foot for tendon
transfer (either anterior tibialis or posterior tibialis split
transfer).472
Kinetics. Kinetics is the force exerted across joints during
gait. Each joint has well-described kinetic patterns, and the
reader is referred to work by Gage for descriptions.207 Two
particular forces are clinically interesting: hip pull-off power
and ankle push-off power. Hip pull-off power, the force
exerted by the iliopsoas and other hip flexors to lift the
stance-phase limb off the ground and into swing phase, is
often diminished in patients with CP and leads to decreased
energy efficiency (Fig. 35-11). Ankle push-off power, the
force exerted by the gastrocsoleus at terminal stance to
push the stance-phase limb off the ground, is diminished in
patients with equinus or calcaneus gait (Fig. 35-12).
Oxygen Consumption. The goal of orthopaedic interven-
tion is to improve the quality and efficiency of walking.
By comparing oxygen cost and consumption with normal
values through collection of preoperative and postoperative
data, the efficiency of the child’s gait can be measured
objectively.84,184,662 Heart rate is an indirect measure of
oxygen consumption and can easily be measured in the
clinic.431,531,532 Children with CP have been found to have
six times higher heart rates when walking than able-bodied
peers do, with the highest heart rates seen in children with
crouch gait.497
Flaws in Gait Analysis. Critics of gait analysis in patients
with CP have pointed out that patients fitted with markers
and electrodes and placed in front of video cameras do not
walk as they do at home or school.670 Considerable vari-
ability in how patients walk from clinic visit to clinic visit
has been noted. Basing treatment plans on kinematic and
kinetic data from a few strides across a gait laboratory may
CHAPTER 35  Disorders of the Brain e11
Ankle power
Generation
Watts/kg
1
Absorption
–1
–3
100 0 25 50 75 100
Stance phase Swing phase
Percentage of gait cycle
FIGURE 35-12  As the gastrocsoleus contracts at heel rise, the
ankle generates a burst of power (black dotted curve). In patients
with either equinus or calcaneus gait secondary to cerebral palsy,
power generation is decreased. (Red curve is the right side, blue
dotted curve is the left side). Vertical lines designate divisions
between the stance and swing phases for each leg.
not always be in the patient’s best interest. Gait analysis
can be an adjunct to clinical examination, but the data
should be scrutinized and the videotape reviewed to judge
whether the data are representative of the gait seen in the
clinic or described by the parents in the home.
Very active gait analysis laboratories claim that their
studies can change the surgical plan in patients with CP in
up to 52% to 70% of instances.160,206 In many cases, gait
analysis reduces the number of individual procedures
needed in a single-event multilevel surgery (SEMLS)
approach.354 The decision-making process with the use of
gait analysis data is only as good as the astuteness and famil-
iarity of the orthopaedic surgeon reading the graphs.
The Gilette Gait Index (GGI) is a numerical calculation
that represents how different the kinematic data are from
age-matched normal values. Improvement in the GGI fol-
lowing SEMLS has been documented in various studies.644
Summary. Gait analysis in our center is used to
1. Clearly document the three-dimensional movement of
the lower extremity during gait preoperatively
2. Document changes in gait over time as the patient grows
because gait may deteriorate in children with CP292
3. Allow preoperative and postoperative comparisons of
results after tendon or bone surgery and to gather
research data
4. Analyze the rotational profile of the patient before
surgery to help the surgeon select the correct site and
amount of rotational change
5. Confirm a surgical plan when needed
Gait analysis does not tell surgeons whether they should
operate, but it may help them fine-tune the operative plan
when questions exist. Additionally, gait analysis provides an
objective assessment of changes seen after SEMLS, includ-
ing alterations in joint position, dynamic range of motion,
and time and distance parameters.6
e12 SECTION VI  Neuromuscular Disorders
Muscle Strength
It has long been known that muscles in children with CP
are typically spastic and that motor control of the muscles
(i.e., the child’s ability to volitionally contract and relax the
muscle) is impaired. Reports have documented that muscle
weakness is also a problem in children with CP. Docu-
mented muscle weakness is worse for children as the CP
GMFCS level worsens.648
Prognosis for Ambulation
Many authors have proposed criteria for predicting the ulti-
mate ability of a child with CP to walk. Inability to sit by
2 years of age,404 persistence of two or more infantile
reflexes beyond 12 to 15 months,68 and lack of head control
by 20 months imply a poor prognosis for ambulation.148
Beals stated that the severity of involvement of the lower
extremities is the most important factor affecting a child’s
eventual ability to walk.53 The presence or absence of
mental retardation does not influence the ability to walk.
The geographic type of CP that a child has influences
whether the child will walk. All children with spastic hemi-
plegia develop the ability to ambulate. Eighty-six percent to
91% of children with spastic diplegia become ambulatory
and 0% to 72% of patients with spastic quadriplegia learn
to walk. The discrepant figures are due to variation in dif-
ferentiation between spastic diplegia and quadriplegia
among studies.548
The age at which children with CP begin to walk varies
with the severity of their neurologic disease. Patients with
spastic hemiplegia generally walk between the ages of 18
and 21 months. Children with spastic diplegia who walk
usually do so by 4 years of age. Many agree that the ability
to walk plateaus by 7 years of age, thus implying that if a
child is nonambulatory at 7 years, the child will probably
never become ambulatory.53,68,133
Treatment
Once the diagnosis of CP has been made, the physician
must select a course of treatment. Treatment choices are
now more numerous than ever and include observation,
physical therapy, botulinum toxin, intrathecal administra-
tion of baclofen, neurosurgery, and orthopaedic surgery.406
With the increasing popularity of nonorthopaedic manage-
ment of spasticity, some centers have noted an overall
decrease in orthopaedic surgical procedures in this patient
group.251 Treatment, whether surgical or nonsurgical, must
be goal oriented. The goals of treatment of children with
CP that have been linked to productive lives as adults are
communication, education, mobility, and ambulation.
Note that walking ranks below mobility. Although ambu-
lation remains a desirable goal, it should not be pursued so
fervently that attention to overall development of the child
is ignored.
Bleck68 quoted Rang as advising orthopaedists to remem-
ber that “the child with cerebral palsy becomes the adult
with cerebral palsy.” Childhood is the optimal time for
intervention to maximize the function of a patient with CP.
It is the orthopaedists’ duty to ensure that the musculosk-
eletal treatment of the child prevents future problems with
pain and deformity as an adult.71 Patients with CP do not
usually have severely shortened life spans. In a study of all
children with CP born between 1966 and 1984, the 20-year
survival rate was 89%. If the patients were ambulatory, had
manual dexterity, and were not mentally retarded, the
20-year survival rate was higher than 99%.281 Survival is
clearly linked with the patient’s GMFCS level. In a study
from the Swedish database, all GMFCS level 1 and 2 chil-
dren survived to 19 years of age, whereas only 60% of
GMFCS 5 children were still alive. Patients with gastros-
tomy tubes were most likely to succumb to early death,
which is indicative of their medical fragility rather than the
presence of the gastrostomy itself.672 The overall 30-year
survival rate is estimated to be 87%; it is lower in those with
spastic quadriplegia, seizure disorders, and profound mental
retardation.132
Nonsurgical Treatment
Physical Therapy
Frequently, the first treatment rendered to a child with CP
is physical therapy. Yet no controlled studies have confirmed
that regular physical therapy improves the outcome of a
child with CP.656 One of the first well-designed studies
investigating the effect of physical therapy was performed
by Wright and Nicholson in 1973. They found no difference
in motor skills or reflexes after 12 months in children who
had neurodevelopmental training or physical therapy and
those who did not.686 Other studies followed and again
showed no discernible improvement after different forms
of therapy.264,377,457,484 In defense of physical therapy, these
studies are difficult to carry out because they involve dif-
ferent age groups and children with varying severity of
neurologic impairment and usually encompass just a brief
period of therapy. However, as Bleck72 pointed out, “The
burden of proof is on the proponents of the treatment.
Critics need not prove ineffectiveness but can insist on
positive data.” The efficacy of physical therapy can be
proved or disproved only with a properly designed, collab-
orative, multicenter, randomized, controlled trial. Such a
trial has yet to be undertaken.649
Physical therapy, ranging from the medical model, with
the aims of attaining ambulation, range of motion, or trans-
fers, to neurodevelopmental training, sensory integration,
and even craniosacral therapy, has been proposed. Electrical
stimulation of the muscles has also been used in these
patients.101,257 Families like physical therapy and attribute
gains in their young child’s ability to interaction with the
therapist. However, some of these gains are simply the
result of neurologic maturation of the child.
Our approach to physical therapy is to establish therapy
for monitoring the developmental milestones of very young
children, around the age of 2 or 3 years. Therapy is contin-
ued if gains are being made in attaining ambulation. School-
based programs are used in elementary school and often
include adaptive physical education. Postoperative intensive
physical therapy is essential to reestablish range of motion
and strength after surgical intervention. Strength training of
weak muscles has been successful in improving motor func-
tion.140,143 We also draw on the expertise of physical thera-
pists in assessing orthotic needs and wheelchair seating
when appropriate. No evidence supports the continued use

A B
FIGURE 35-13  A to C, Different views of common ankle-foot orthoses (AFOs) used in patients with cerebral palsy. The orthosis on the left
is a ground reaction AFO that extends across the anterior aspect of the tibia to prevent flexion of the knee in stance. The center orthosis is
a conventional solid ankle AFO. The orthosis on the right is a hinged AFO that allows dorsiflexion of the ankle but prevents equinus.
of physical therapy for range of motion, particularly in a
nonambulatory child. Physical therapists play an important
consultative role in making treatment decisions for patients
whom they treat on a regular basis and whom we examine
on a relatively infrequent basis.
It is common for parents of children with CP to resist
discontinuing physical therapy. We believe that goals must
be set for therapy and, if progress toward these goals is not
being made, either the goals need to be reassessed or therapy
should be stopped because it is not useful. Setting measur-
able functional goals has led to greater success after physical
therapy.85
In an older child, transitioning from physical therapy to
therapeutic recreation is desirable and generally met with
enthusiasm by the patient.501 Adaptive sports or swimming
allows the child to participate with peers and affords greater
enjoyment than exercises in the therapy gym do. Time in
school should be spent on education at this age and not on
physical therapy.
Casting
Inhibitive casting has waxed and waned in popularity as a
mode of treatment of spasticity in children with CP. It is
based on the presence of areas on the feet that are target
centers for increased tone at the ankle and, some believe,
throughout the lower extremities in certain patients. Usually,
short-leg casts are applied with extended toe plates, careful
molding of the heel, and metatarsal head control. This has
been used by physical therapists and by some physicians.
The time spent in casts varies but is generally a minimum of
6 weeks and is followed by the use of orthoses.
In our experience, casting has a limited role in patients
with CP. We have used casting in rare cases of very young
children (<4 years) with equinus contractures to delay sur-
gical heel cord lengthening. Because equinus recurs after
casting, permanent resolution of the equinus is not a goal.
Some studies show short-lived improvements in passive and
dynamic ankle range of motion following casting,391 whereas
others have reported longer resolution of equinus contrac-
tures in children younger than 6 years.126
CHAPTER 35  Disorders of the Brain e13
C
Orthoses
Orthoses can be helpful in improving gait in ambulatory
patients with CP. Bracing is best prescribed when specific
treatment goals for gait improvement are identified.152
Ankle-foot orthoses (AFOs) are helpful in positioning the
ankle and foot during gait. In young children, dynamic
equinus can be improved, with a plantigrade foot position
obtained and the tendency for genu recurvatum
decreased.544,595
AFOs come in various designs (Fig. 35-13). Solid ankle
AFOs are used when minimal dorsiflexion of the ankle is
possible. Of the various types, they afford the easiest fit.
Solid ankle AFOs can also be used in patients with excessive
dorsiflexion and knee flexion; by stabilizing the ankle,
extension of the knee is encouraged. Ground reaction AFOs
have an anterior shell of plastic across the proximal end of
the tibia and are rear entry. The goal of a ground reaction
AFO is to provide push-back on the knee during stance
phase and help the knee extend. Patients who walk in mild
crouch with knee flexion contractures of less than 10
degrees may benefit from this design.522 Hinged AFOs
permit a more natural gait by allowing some dorsiflexion
during stance but blocking plantar flexion and therefore
eliminating equinus and footdrop.102,512 Greater power gen-
eration in preswing is seen with hinged AFOs than with
solid ankle designs496; however, hinged AFOs are bulkier
and break more frequently, and they offer no benefit if the
patient does not have passive dorsiflexion of the ankle. If
crouch gait is present, a hinged AFO will worsen knee
flexion, thereby leading to ankle calcaneus and a less effi-
cient gait.97 Posterior leaf spring AFOs are fabricated from
more pliable polypropylene and have more severe posterior
trim lines at the ankle. They are touted as providing a little
push-off at terminal stance. They tend to break and may
not provide enough hindfoot control in most patients with
CP. Gait analysis has shown that posterior leaf spring AFOs
function similar to hinged AFOs; that is, they allow some
dorsiflexion in stance phase through deformation of the
brace, and they control equinus in swing phase but do not
return energy at push-off.454
e14 SECTION VI  Neuromuscular Disorders
Tone-reducing (or dynamic) AFOs incorporate a molded
footplate, termed an inhibitive footplate, and have higher
trim lines that extend across the dorsum of the foot. The
goal of these orthoses is to apply pressure similar to that of
an inhibitive cast and therefore reduce tone throughout the
lower extremities. Little scientific evidence supports this
design inasmuch as no significant functional changes in gait
have been noted with the use of tone-reducing as opposed
to standard AFOs.131 Nonetheless, they remain popular
with many families.
Bracing above the knee with knee-ankle-foot orthoses
(KAFOs) or hip-knee-ankle-foot orthoses (HKAFOs) is not
generally done in those with CP. The weight and bulk of the
braces usually interfere with rather than improve the child’s
ability to walk. Short-term use of KAFOs or knee immobi-
lizers after soft tissue surgery for crouch gait can be helpful
in retraining children to walk.
Our indications for bracing are
1. To obtain a plantigrade foot position and reduce genu
recurvatum in patients with dynamic equinus
2. To support the foot in dorsiflexion during swing phase
when footdrop is present
3. To assist the foot postoperatively while weakness is being
treated by physical therapy
4. To improve mild crouch
We do not advocate the use of AFOs in nonambulatory
patients who are able to wear shoes, but we do on occasion
prescribe them when footwear is difficult and is improved
with orthoses. We also do not use AFOs in a preambulatory
young child because they interfere with the child’s ability
to crawl and move about the floor.
Some patients walk worse with AFOs than without
them. In patients with significant crouch gait, flexion of the
knee and hip with the foot supported in an AFO forces the
child to either pull up out of the braces or toe-walk despite
the orthosis (Fig. 35-14). Toe-walking has not ever been
found to be harmful, so it is often better to allow the child
to walk on toes brace free or to proceed with surgery when
appropriate. Valgus deformities of the hindfeet are often
difficult to brace because braces can produce painful cal-
luses and blisters over the prominence of the talar heads.
A B
FIGURE 35-14  A, Bilateral equinus in a child with spastic diplegia. B, The orthosis is unable to maintain a plantigrade foot position
because of spasticity in the gastrocsoleus and flexion at the hip and knee.
Comfortable footwear without orthoses is preferable for
these feet. Finally, as young children with CP become ado-
lescents, they often refuse to wear orthoses for cosmetic
reasons. Allowing the patient to make a personal choice in
whether to wear a brace is particularly important in this
age group.
Medical Treatment of Spasticity
Oral Medication
Oral pharmacotherapy, including diazepam and baclofen,
has been used in an attempt to reduce tone in patients with
CP.138 Side effects include somnolence. Oral tizanidine has
been used to relieve spasticity with improved results.139
Patients with movement disorders such as dystonia or cho-
reiform movements have been treated by various medica-
tions, with varying success.490
Intrathecal Baclofen. The inability to adequately reduce
tone with oral baclofen because of the side effects with
large dosages led to trials of intrathecal baclofen. When
baclofen is injected into the intrathecal space, small doses
can effectively reach the target neural tissue of the spinal
cord and produce a greater reduction in tone.406 Baclofen,
a γ-aminobutyric acid agonist, acts at the spinal cord level
to impede release of the excitatory neurotransmitters that
cause spasticity.16 After proof of efficacy with test injections
of the drug, implantable pumps filled with baclofen are
surgically inserted into the anterior abdominal wall and the
dose of medication is titrated. Continuous infusion of the
medication is delivered by the pump, which requires refill-
ing approximately every 3 months. Studies have shown
decreased upper and lower extremity tone and improve-
ments in range of motion with continuous intrathecal
baclofen infusion.17,38
Complications occur in approximately 20% of patients.
The complications are usually related to catheter dislodg-
ment or fracture, but serious infection occurs in 5%.16
Overdose of intrathecal baclofen is very rare but serious
and can produce somnolence and hypotonia, which
leads to respiratory depression requiring mechanical
ventilation.551
 CHAPTER 35  Disorders of the Brain e15

Currently, no strict indications for the use of intrathecal

baclofen have been determined, but most pumps are
implanted in patients with severe spasticity that interferes
with positioning and function of the upper and lower
extremities. Pumps are currently being implanted in both
nonambulatory and ambulatory patients. Spasticity, as
graded by the Ashworth scale, has been shown to decrease
1 year following implantation of intrathecal baclofen pumps
regardless of preoperative severity.415 Caregiver satisfaction
in the nonambulatory group is high, with parents noting
easier positioning, transfers, and personal care, as well as
improved pain control.221,413 Pain relief and improved sleep
are typically seen within 6 months of pump implantation.499
Many of these patients still need orthopaedic surgery for
hip subluxation or contractures.216 Although progressive hip
subluxation can occur, significant deterioration in migration
percentage is uncommon.328 Close monitoring for scoliosis
is also warranted because rapid progression of deformity has
been described in some studies but refuted in others.559 Two
studies comparing progression of scoliosis in patients who
had intrathecal baclofen pumps implanted versus a well-
matched control group of children with severe CP who
were not treated with baclofen found no statistical differ-
ence in progression of scoliosis in the treated group. Both
groups of patients experienced curve progression, which
supports the premise that it is the severity of neurologic
involvement and functional disability that predisposes the
patient to scoliosis and not the medical management of
spasticity (Fig 35-15).579,588

Botulinum Toxin. Botulinum toxin injections have become

a popular form of treatment in patients with CP. The toxin
is produced by the anaerobic bacterium Clostridium botu-
linum and works by blocking the release of acetylcholine at
the neuromuscular junction. It is injected at known ana-
tomic sites of innervation,663 often guided by EMG. The
targeted muscle becomes weak because of lack of innerva-
tion until the neuromuscular junction sprouts new endings.105
Botulinum toxin is available in two forms, Botox and
Dysport, which are not pharmacologically equivalent.412
Muscles that are considered to be candidates for injec-
tion are those that produce dynamic deformities in the
absence of fixed contracture. For example, a child who
walks in ankle equinus because of spasticity in the gastroc-
soleus but who exhibits dorsiflexion on passive range of
motion may be a candidate for injection into this muscle.
The drug begins taking effect after 2 to 3 days, and its effect
wears off after approximately 3 months. The amount of
botulinum toxin that can be injected at any one setting has
an upper limit, so it works best in children in whom only
one or two muscles are to be injected. It offers less benefit
to a child with multiple muscle involvement. From a techni-
cal standpoint, superficial large muscles are the easiest to
inject. Deep muscles, such as the iliopsoas, can be injected
under imaging for accurate localization.673,677
Most research that has been published in the orthopaedic
literature on the use of botulinum toxin for CP has involved
gastrocsoleus injection. Two randomized, double-blind,
placebo-controlled trials found improved initial foot contact
and gross motor function in botulinum toxin–treated
patients.325,661 Gait studies have found improvements in
sagittal-plane stance-phase dorsiflexion—in other words,
FIGURE 35-15  Eleven-year-old boy with 110-degree scoliosis,
spastic quadriparesis, and an intrathecal baclofen pump. The
patient had also undergone left hip reconstruction for subluxation.
less equinus—after botulinum toxin injection.186,323,628 Cos-
grove, one of the first proponents of this treatment, notes
that patients who are younger, who have diplegia rather
than hemiplegia, and who have greater dynamic shortening
of the muscle with less contracture have the best response.
He and others proposed that botulinum toxin may allow
tendon surgery to be delayed until a later age, when the risk
for recurrence is lower.125,324
Botulinum toxin injections have been compared with
serial casting for the nonsurgical treatment of equinus. In
one study, the results were similar between children treated
with serial casting and those who underwent botulinum
toxin injection.122 Conflicting results were seen in another
report, which found Botox alone to be less effective than
either casting or combined Botox and casting for ankle
equinus.8 Yet another study reported that casting plus Botox
provided improved passive dorsiflexion and motor control
when compared with Botox alone.256 Finally, a meta-analysis
e16 SECTION VI  Neuromuscular Disorders
of all randomized controlled studies found no benefit of
Botox and casting over either casting or Botox alone.543
Botox injections into other muscles have been
studied.100,125 Hamstring injections may decrease crouch
at the knee. Injection of the adductors is reported to
lessen scissoring and significantly increase hip abduction.370
Some centers perform adductor injections to decrease
hip subluxation, although the results to date do not support
this approach.483 A randomized controlled study in Aus-
tralia compared young children with CP treated with
botulinum toxin injections into the adductors and ham-
strings every 6 months and daily use of an abduction
brace with a similar group of young children who were
observed without intervention. Both groups experienced
progressive subluxation, although the treated group had
a minimal decrease in the rate of progression. The authors
concluded that the program of botulinum toxin injection
and bracing did not significantly influence the outcome
of the hip.227
Frequently, parents adopt the philosophy that no harm
will be done with injection and surgery can be performed
later if necessary. One study found that only 10% of chil-
dren treated with Botox (and guided by gait analysis) under-
went surgery by 7 years of age as opposed to 52% of
7-year-olds who did not receive injections.403 Although the
use of Botox may delay the need for operative treatment,
it has not been shown to decrease the need for tendon
surgery in the long run. The results wear off, and over time
repeated injections become undesirable.
Indications for botulinum toxin injection are
1. A child with a dynamic equinus deformity and no fixed
plantar flexion contracture
2. A child with equinus gait without multilevel crouch
3. A child younger than 4 years who cannot tolerate AFOs
because of dynamic equinus
4. Parents’ desire for injections and refusal of tendon-
lengthening surgery
Rarely, we recommend botulinum toxin injection before
surgery to investigate possible response to a planned surgical
intervention.
Botox has been used in a few hospitals to reduce muscle
spasm after orthopaedic surgery. Although improved pain
relief and reduced medication requirement have been
reported in a small series, widespread use of Botox in the
perioperative period has not yet been adopted.51
Some reports of adverse events linked to botulinum
toxin injection have led to warnings from regulatory agen-
cies that have tempered the enthusiasm for Botox treat-
ment.15,28 Sixteen deaths from dysphagia and respiratory
compromise led to issuing the warning. A follow-up study
of 334 patients who received 596 Botox treatments found
a 23% incidence of temporary adverse events, which
included generalized weakness in one child, worsening of
dysphagia, and respiratory infections; however, no deaths
occurred in this group.444 A large Australian series of 1147
children treated with botulinum toxin injections found a
1.3% incidence of hospital admission for respiratory com-
promise and linked the adverse reactions to higher GMFCS
levels.426 Because many severely involved patients have mul-
tiple comorbid conditions as a result of the severity of their
medical condition, it is difficult to definitively establish
whether the complications described are due to the injec-
tion of botulinum toxin or are inherent because of the
patients’ underlying fragile health.
In conclusion, botulinum toxin injection is of use in the
treatment of lower extremity spasticity. Recommended
dose guidelines have been published.358 Complications are
rare but serious and are seen most frequently in the GMFCS
5 population.
Surgical Treatment
General Considerations
When evaluating a child with CP for surgical intervention,
a few general principles must be kept in mind. Speaking
frankly with the family about the goals of surgery and the
expected postoperative course is important. Frequently, the
family will have unrealistic expectations and believe that
surgery will “cure” the child and help him walk normally.
It must be explained that CP is a brain disease and that
orthopaedic surgery for CP will make the child walk differ-
ently, hopefully better, but will not make the child walk
“normally.”
Timing of Surgery
Experts recommend combining multiple tendon surgeries
and osteotomies into a single surgical event (SEMLS).73,159
Rang advised avoiding “birthday surgery,” or hospitalizing
the child every year for yet another soft tissue surgery or
osteotomy.501 Aside from avoiding repeated hospitalizations
as one joint is released at a time, contractures present at
one joint affect the position and movement of the rest of
the extremity, so correcting all concomitant contractures
simultaneously during one surgery is important to avoid
recurrence or overcorrection of deformity.506 Because gait
changes and matures until approximately 7 years of age,
when feasible it is wise to avoid surgery until this time. At
this age, multiple levels can be treated simultaneously to
optimize the ambulatory skills of the patient, followed by
a single aggressive course of physical therapy to maximize
the benefits from surgery. This surgical approach has been
termed “single-event multilevel surgery.” The literature
supports the fact that well-executed surgery addressing all
contractures can result in stabilization of patients’ GMFCS
level, thereby preserving their function or in many cases
resulting in a lower GMFCS level at follow-up (i.e., improv-
ing their gait closer toward normal).218
In some patients surgery cannot be delayed until the age
of 7 years. Young children with hip subluxation should
undergo surgery when the problem is first recognized to
improve coverage of the hip. At younger ages hip surgery is
often less extensive and frequently consists of only soft
tissue release, whereas in older children, additional osteoto-
mies of the femur and pelvis are required.
For other children who are nearly ambulatory but whose
progress has been halted by contractures in the lower
extremities, earlier surgery may allow them additional range
of motion to make walking less cumbersome. Adductor
release for scissoring and gastrocsoleus surgery with or
without hamstring lengthening in these younger children
may be indicated. Parents should be forewarned about
recurrent contractures requiring additional surgery in the
future.
 CHAPTER 35  Disorders of the Brain e17

Studies have found that the natural history of gait

disturbances in patients with CP is gradual deterioration
beginning at 12 years of age.310 Decreased ankle, knee, and
hip sagittal-plane motion, decreased cadence, and slower
walking speed have been documented over time in patients
who did not undergo intervening surgical procedures.60 It is
common for crouch and contractures to worsen in the early
teen years. Surgery may offer some benefit, but realistic
goals must be discussed.
Anesthetic Concerns
Patients with CP experience latex allergy with increased
frequency, and for those with suspected latex allergy, a
latex-free surgical environment is necessary. Allergy testing
is available for latex products. At-risk children are those
who have undergone multiple previous operations or who
have indwelling latex devices such as gastrostomy tubes or
ventriculoperitoneal shunts.156,175
Antiseizure medications may produce alterations in
clotting. Increases in bleeding times and decreased platelet
counts are known side effects of some antiepileptic FIGURE 35-16  Bilateral severe equinus contracture in a child with
agents. Preoperative evaluation of clotting parameters is cerebral palsy.
recommended for major operations such as hip recon-
struction or spinal fusion. A routine clotting profile
consisting of a prothrombin time and partial thrombo-
plastin time will miss bleeding time abnormalities. avoiding overimmobilization and secondary stiffness is
Platelet function assays can help identify these bleeding logical.
disorders.
Postoperative pain control is difficult in patients under-
going hip reconstruction, spinal surgery, and multilevel Management of Foot Involvement
tendon surgery. We use continuous epidural infusions at our in Cerebral Palsy
hospital and find that if the pain is well controlled, problems
with muscle spasm are lessened. Oral medication often Equinus
needs to include both pain control medications and muscle Equinus is defined as increased plantar flexion secondary to
relaxants such as diazepam. a plantar flexion contracture or dynamic plantar flexion
secondary to overactivity of the gastrocsoleus during gait
Postoperative Management (Fig. 35-16). Patients who walk on their toes often have
Weakness is a frequent short-term sequela of lower extrem- equinus, but some may be on their toes as a consequence
ity surgery in those with CP. Persistent diminished muscle of crouch at the hip and knee and may in fact have a neutral
strength has been documented 1 year following surgery.581 ankle position. The physician must differentiate these two
Plans should be made for frequent postoperative physical groups of children.
therapy beginning shortly after surgery with attention given
to muscle strengthening. If at all possible, the patient should Differential Diagnosis of Equinus
be kept ambulatory or weight bearing after the operation. Not all children who walk on their toes have CP. Idiopathic
Prolonged time in a wheelchair adds to the overall weakness toe-walking caused by a congenitally short Achilles tendon
of the limbs. Patients with osteotomies are the exception is a condition in which otherwise neurologically normal
to this rule. In these children, weakness may be even more children walk on their toes. Unlike children with CP, these
of a problem once casts are discontinued. A few centers children are not developmentally delayed and walk on time,
have exhibited new enthusiasm for minimally invasive have normal knee motion during gait, have no neurologic
surgery to correct contractures in children with CP. Percu- signs of spasticity, and have normal reflexes. Gait studies
taneous releases with safe intramedullary fixation of rota- looking at kinematic and EMG data have attempted to dif-
tional osteotomies may result in less loss of strength in the ferentiate the two diagnoses on these grounds,243,267,297,458
postoperative period.647 Because it is imperative, however, but a thorough history and physical examination by an
that safety be ensured, percutaneous releases are not appli- experienced clinician are really all that is needed in most
cable in all situations. children.
A trend toward less immobilization after soft tissue Another condition that produces toe-walking is muscular
surgery has emerged. In our practice, short-leg casts are still dystrophy. The condition should be suspected in any young
used after Achilles tendon lengthening, but knee immobiliz- boy who walks on his toes and has a normal birth history.
ers rather than casts are becoming more frequently used A delay in the age of walking is frequently seen in patients
after hamstring lengthening, and removable abduction bars with Duchenne muscular dystrophy, so the developmental
are preferable to Petrie casts after adductor release.300 The history may not differentiate it from CP. Testing for the
goal of soft tissue surgery is greater range of motion, so Gower sign by having the child rise up rapidly from a sitting
e18 SECTION VI  Neuromuscular Disorders
A
B
FIGURE 35-17  A and B, Mild ankle equinus in a 17-year-old girl
with spastic diplegia. The ankle cannot be dorsiflexed past neutral
with the knee extended.
position on the floor will accentuate the presence of proxi-
mal muscle weakness. If the test for the Gower sign is
suspicious, laboratory evaluation for serum muscle enzymes
(creatine phosphokinase) is indicated.
Clinical Features
Clinical examination of a child with equinus associated with
CP reveals an inability to fully dorsiflex the ankle. If the
ankle can be passively dorsiflexed with the knee bent to 90
degrees but cannot be dorsiflexed with the knee extended,
it is believed that the gastrocnemius is tight but the soleus
is not contracted (Silfverskiöld test; Fig. 35-17).473 Some
have used this test to determine which type of surgical
lengthening to perform. If the ankle has sufficient dorsiflex-
ion on passive range-of-motion examination, the equinus is
termed dynamic, and surgical treatment is not usually
needed.621
Equinus interferes with forward progression of the tibia
over the foot during stance phase and therefore shortens
stride length. Because the ankle is already plantar-flexed at
terminal stance, little push-off power is generated and the
gait is less efficient. If the tibialis anterior is unable to lift
the foot to neutral during swing phase, footdrop results,
with possible problems in clearing the foot in swing phase
and tripping. Lack of normal swing-phase ankle dorsiflexion
leads to forefoot contact on foot strike at the beginning of
stance phase. Knee disturbances also result from ankle
Normal hip
Knee
hyperextended
FIGURE 35-18  Hyperextension of the knees to compensate for
fixed equinus deformity of the ankle. One method of aligning the
trunk and bringing the center of gravity over the feet is by knee
hyperextension.
equinus. Genu recurvatum is seen when the tibia is unable
to move forward over the plantigrade foot because of tight-
ness in the gastrocsoleus, so the knee thrusts backward
during midstance (Fig. 35-18). The body and femur con-
tinue to move forward over the stationary tibia, and an
extensor moment is produced at the knee. This aligns the
ground reaction force anterior to the knee, thereby reducing
demands on the quadriceps and improving the stability of
the knee.595,631 Likewise, compensatory knee flexion can be
seen during stance phase in patients who walk on their toes.
Over time, ankle equinus leads to valgus positioning of
the hindfoot and stretching of the plantar arch (midfoot
break). Although the foot may appear plantigrade, the talar
head is very prominent in the longitudinal arch and the
calcaneus is actually in equinus. Pain and calluses form over
the head of the talus (Fig. 35-19). Hallux valgus can develop
in response to the valgus positioning of the foot.
Treatment
Surgical treatment of equinus is selective lengthening of the
Achilles tendon or gastrocnemius fascial recession.73 Advo-
cates of gastrocnemius recession state that this operation
preserves or even increases push-off power more than
Achilles tendon lengthening does by not involving the soleus
muscle or tendon.39,533 Immobilization is minimized after
gastrocnemius recession, whereas casting is necessary after
Achilles tendon lengthening. The risk for overcorrection
into a calcaneus gait is negligible. Perry and Hoffer believe
that gastrocnemius recession should be performed when a
Silfverskiöld test performed under anesthesia is positive and
dynamic EMG shows more abnormality of the gastrocne-
mius than of the soleus during gait.472

FIGURE 35-19  Equinovalgus of the right foot of an adolescent girl
with spastic quadriplegia. The talar head is very prominent, and a
painful callus has developed.
Those who prefer lengthening of the Achilles tendon
recognize a greater rate of recurrence of equinus after gas-
trocnemius recession, which has been as high as 48% in
some studies.147,445 They also state that Achilles tendon
lengthening may be done percutaneously, unlike gastrocne-
mius recession.237,410 In one comparative gait analysis study,
no significant difference was found between patients who
had undergone gastrocnemius recession and those who had
undergone lengthening of the Achilles tendon.193 In another
study, if equinus was an isolated gait abnormality (i.e., the
knee did not lack extension during stance phase), isolated
percutaneous Achilles tendon lengthening to a plantigrade
position was very successful in improving ankle kinematics
and kinetics without resulting in knee abnormalities or a
calcaneus gait.658 A higher risk for calcaneal overcorrection
has been noted after percutaneous Achilles tendon length-
ening than after Baker gastrocsoleus aponeurotic lengthen-
ing.79 At 9 years of follow-up, a calcaneus gait had developed
in only 10% of 44 spastic diplegics treated by gastrocsoleus
aponeurotic recession.176 In contrast, Dietz and colleagues
studied 79 children who had undergone Achilles tendon
lengthening. At an average of 7 years’ follow-up, they found
that a calcaneus gait did not develop in the hemiplegic
patients whereas 41% of the diplegic and 50% of the quad-
riplegic patients did walk with excessive knee flexion and
ankle dorsiflexion.172 Vuillermin and colleagues side with
Dietz. They studied the prevalence of crouch in two periods,
the first when Achilles tendon lengthening was commonly
performed and the second when gastrocnemius recession
replaced Achilles tendon lengthening. They found a marked
decrease in the development of crouch gait in the second
cohort of patients. Confounding factors were the use of gait
analysis for preoperative planning and adoption of the
SEMLS approach in the group treated with gastrocnemius
recession.668 Controversy on this subject continues, with
surgeons split between those who believe that the adoles-
cent crouch gait is the result of weakness from previous
Achilles tendon–lengthening surgery and those who believe
it to be due to growth and untreated hamstring spasticity.
Increasing knee flexion (crouch gait) has been documented
to develop over time in patients who have not previously
undergone orthopaedic procedures.530 Meta-analysis of the
CHAPTER 35  Disorders of the Brain e19
Gastrocnemius
muscle
Soleus
muscle
FIGURE 35-20  Lengthening of the gastrocnemius by the Vulpius
technique.
existing literature failed to show a scientific preference for
one procedure over another, although it was agreed that
recurrence was most likely in younger patients and that
overcorrection (or talipes calcaneus) was unlikely in hemi-
plegics when compared with diplegics.589
Gastrocnemius Recession. Gastrocnemius recession may
be done with the techniques of Strayer, Baker, or Vulpius.
In a Vulpius procedure, the aponeurosis of the gastrocsoleus
is divided in chevron fashion and the midline fibrous septum
of the soleus is transected, but the soleus muscle fibers are
not disturbed (Fig. 35-20). The fascia slides on the underly-
ing soleus.287,536 The cut in the gastrocnemius is transverse
and more proximal in the Strayer procedure, which does
not lengthen the soleus whatsoever (Fig. 35-21).624 In the
Baker technique, the gastrocsoleus aponeurosis is cut in
tongue-in-groove fashion and dissected free from the under-
lying soleus muscle.41 The fascia is allowed to slide on the
underlying muscle, thereby increasing the overall length of
the muscle, and the four corners of the aponeurosis are
sutured in the lengthened position (Fig. 35-22). These sur-
geries can be divided into groups based on the zone in which
lengthening occurs. Zone 1 is from the gastrocnemius origin
to the distal end of the medial gastrocnemius. Zone 2 is
from the distal end of zone 1 to the end of the soleus muscle
belly. Zone 3 represents the Achilles tendon. The Strayer
lengthening occurs in zone 1 and the Vulpius and Baker
lengthenings in zone 2.589
e20 SECTION VI  Neuromuscular Disorders

Gastrocnemius and
soleus muscles separated
by blunt dissection at
level of beginning of
conjoined tendons Severed tendon
sutured to soleus
muscle at least
1 inch higher
than origina
attachmentl

Gastrocnemius muscle severed

over a probe; proximal portion
of tendon lifted and dissected
from underlying muscle

FIGURE 35-21  Distal recession of the gastrocnemius, Strayer technique.

Line of incision
in Achilles tendon
for Z-lengthening

Inverted U incision Sutures holding
lengthened Achilles
Underlying soleus
tendon in place
muscle left intact
FIGURE 35-22  Tongue-in-groove lengthening of the
gastrocnemius aponeurosis in its middle third, the Baker
technique.
Achilles Tendon Lengthening. Achilles tendon lengthening
may be performed by open or percutaneous techniques. In
the open technique, a longitudinal incision is made just
lateral to the Achilles tendon. The tendon is lengthened in
Z-fashion and repaired with stout nonabsorbable suture
(Fig. 35-23). The tendon must be repaired with sufficient
tension to avoid postoperative calcaneus gait.42,43,210,213 The
ankle is then immobilized in a short-leg cast for 6 weeks.
An open sliding lengthening of the Achilles tendon may also
be performed; this procedure does not require suturing of
the tendon.
The percutaneous technique may require two or three
cuts in the tendon. We prefer the two-cut technique
described by White.675 Just proximal to the calcaneal
Lengthened
Achilles tendon
resutured
Medial half is to be
detached from calcaneus
FIGURE 35-23  Z-lengthening of the Achilles tendon.
insertion, a little more than half the tendon is divided medi-
ally by inserting a scalpel longitudinally into the center of
the tendon, turning the blade out medially, and ballotting
the tendon down onto the blade. The lateral half of the
tendon is then divided by using a similar maneuver more
proximally. The heel is inverted into varus, and the ankle is
dorsiflexed to the neutral position (see Plate 35-1). The
tendon can be heard lengthening as the ankle is gently
manipulated. It is not unusual to hear a pop as the tendon
slides and lengthens, although we prefer more gradual and
gentle lengthening to prevent overlengthening of the tendon.
It is important to check the integrity of the tendon after
percutaneous lengthening. The calf is squeezed while the
surgeon observes the ankle. If the ankle plantar-flexes when
the calf is squeezed, the tendon can be presumed to be
intact within the tendon sheath, and no sutures are needed.
Steri-Strips are applied to the two stab wounds, followed
by a cast. If no plantar flexion is noted, the tendon may

have been completely separated by the lengthening proce-
dure and open suture repair will be needed to reestablish
continuity of the tendon. This is a very rare occurrence;
usually, the percutaneous technique proceeds without com-
plication. Again, a short-leg cast is applied and worn for 6
weeks, with weight bearing encouraged.
Hoke described a three-cut technique for percutaneous
heel cord lengthening.273 After making one lateral and two
medial cuts in the tendon, the ankle is dorsiflexed as the
tendon slides on itself and lengthens. Postoperative care is
identical to that after the two-cut technique.
Postoperative Care
After either heel cord lengthening or gastrocnemius reces-
sion, patients may tend to flex their knees after surgery. This
is caused by muscle spasm in the hamstrings and gastrocne-
mius (which crosses the knee joint). We find that use of a
knee immobilizer for the first few days to weeks can help
reduce the amount of muscle spasm and prevent the devel-
opment of a postoperative knee flexion contracture.
After the short-leg cast is removed, an AFO is prescribed
postoperatively for most patients. Children who had foot-
drop in swing phase preoperatively will continue to have
footdrop after heel cord lengthening, and patients and fami-
lies should be forewarned of the continued need for ortho-
ses after surgery to support the foot and improve toe
clearance in swing phase. Many younger children benefit
from the stability of an AFO postoperatively, whereas in
most older children and teens, the goal of heel cord length-
ening is to rid them of braces on their feet, so they are
reluctant to use an AFO after surgery.
Complications
Complications are rare after heel cord lengthening or gas-
trocnemius recession. Recurrent equinus is the greatest risk;
it occurs in approximately 15% to 35% and correlates
strongly with the age of the patient at surgery. Children who
undergo heel cord lengthening at 4 years or younger are
particularly at risk for recurrence.228,339,503 It is impossible
to know whether it is the greater amount of growth left in
younger children after heel cord surgery that leads to the
high rate of recurrence or whether it is preselection of
young children with the greatest tone to undergo surgery at
an early age after failure of nonoperative treatment that
leads to recurrent contracture. In a long-term study by
Rattey and colleagues, 26% of patients who had undergone
Z-lengthening of the Achilles tendon required repeated
lengthening for recurrent equinus at an average follow-up
of 10 years. The risk for recurrent contracture was greater
in patients with hemiplegia (41%) than in those with diple-
gia (18%).503 Grant and associates found that an inability
to actively dorsiflex the foot preoperatively increased the
risk for recurrence.231 Repeated surgery is possible and
common. With repeated lengthening, the Achilles tendon
becomes scarred and adherent, so repeated lengthening
must usually be done with the open technique.228 Patients
who have undergone gastrocnemius recession have a higher
rate of recurrence than do those treated by tendon
lengthening.
Calcaneus deformity, defined as excessive dorsiflexion of
the ankle during stance phase, may result for two reasons.
First, the tendon may simply be overlengthened or may
CHAPTER 35  Disorders of the Brain e21
have lost continuity. When performing lengthening, the
surgeon must be careful to bring the foot just to neutral.
Overstretching of the tendon can lead to excessive length
and a calcaneus gait, with poor push-off and a tendency for
the development of progressive crouch of the knees.
The second reason that a calcaneus gait may occur after
lengthening of the gastrocnemius or Achilles tendon is an
unrecognized flexion contracture of the knee.364 If the knee
remains crouched and the Achilles tendon becomes longer,
the ankle sags into excessive dorsiflexion during stance
phase and gait loses efficiency. A meticulous physical exami-
nation before surgery in which tone and range of motion of
the knee are assessed is critical. If the popliteal angle is
increased and the child exhibits excessive knee flexion
during stance phase or an inability to straighten the leg as
the heel makes contact with the ground, postoperative cal-
caneus will most likely develop if the knee is not surgically
treated at the same time (Fig. 35-24).
The incidence of calcaneus gait as a complication of heel
cord lengthening averages approximately 5%. Segal and col-
leagues found calcaneus on kinematic graphs in 30% of
patients.573 Although this figure seems high in comparison
to previous studies, it does highlight the need to treat all
levels of deformity during surgery and avoid overlengthen-
ing at all cost.503 Mathematic equations have been derived
to calculate the exact amount of lengthening required for a
particular patient, but most find the use of these equations
somewhat cumbersome.213
Although most patients in whom a calcaneus gait devel-
ops have previously undergone equinus surgery, in a group
of patients calcaneus will develop de novo. An adolescent
diplegic patient is at greatest risk for calcaneus. Patients
who gain weight (as in the adolescent growth spurt) and
who have plantar flexor weakness were found on serial
gait analysis to be most prone to the development of a
calcaneus gait.278
Toe-walker Foot flat
A B
FIGURE 35-24  A, Child with a crouched knee and toe-toe gait.
The ankle is actually in neutral position, but the child walks on the
toes to compensate for the flexed knee. B, After inappropriate
Achilles tendon lengthening, flexion at the knee remains
unchanged and the ankle is now excessively dorsiflexed, which
results in a calcaneus gait.
e22 SECTION VI  Neuromuscular Disorders
Preferred Procedure
In our clinical practice we prefer percutaneous Achilles
tendon lengthening as the surgical treatment of fixed
equinus contractures. Postoperative cast immobilization is
used for 6 weeks, and AFOs are prescribed on an individual
basis. We agree with the philosophy that “a little equinus is
better than any calcaneus” and avoid overlengthening. Most
important, we thoroughly evaluate the child for other joint
involvement, and we typically perform surgery on multiple
levels of the lower extremity at the same time (SEMLS).
We do see some recurrent contractures with growth, and
we reoperate when these contractures interfere with gait.
Gastrocnemius fascial lengthening is performed in our
center for milder dynamic equinus.
Equinovarus
Etiology and Clinical Features
Equinovarus deformity of the foot results from muscle
imbalance in which the invertors of the foot, specifically the
posterior and anterior tibialis muscles, overpower the ever-
tors (the peroneals). The gastrocnemius contributes equinus
to the deformity. Patients walk on the lateral border of the
inverted foot, and painful calluses may develop laterally
over the fifth metatarsal. The deformity is most prevalent
in patients with spastic hemiplegia (Fig. 35-25).
Gait analysis shows an internal foot progression angle as
a result of inversion of the foot. Ankle equinus is present,
and footdrop may be evident during swing phase. Pedobaro-
graphic assessment demonstrates decreased hindfoot pres-
sure (secondary to equinus) and increased pressure beneath
the lateral border of the forefoot and midfoot, specifically
the fifth metatarsal (Fig. 35-26).
FIGURE 35-25  Equinovarus deformity in a 5-year-old boy with
right spastic hemiplegia.
Treatment
Nonoperative treatment is usually unsuccessful. A supple
deformity can be braced, but if the muscles are very spastic,
the orthoses can exacerbate the blisters or calluses over the
lateral border of the foot. Botulinum toxin injections have
been tried, but no published studies have shown long-term
efficacy for equinovarus.
Surgery is indicated to improve foot contact and relieve
pain and skin changes. If the foot can be passively corrected
with manipulation in the clinic to a neutral position, tendon
surgery can be performed. Lengthening procedures and split
transfers have been described, and more detail will be pro-
vided about these procedures. If the deformity is stiff and
the foot cannot be manipulated into a plantigrade position,
bone surgery will be necessary. In patients with spastic
diplegia and quadriplegia, equinovalgus tends to develop
later during childhood and adolescence. Young patients,
specifically those younger than 8 years, who are diplegic or
quadriplegic are most likely to have unsatisfactory long-
term results after surgery for equinovarus. For this reason,
nonoperative treatment options should be exhausted in
these patients.111
Surgical decision making for the soft tissue correction of
spastic equinovarus focuses on distinguishing whether it is
the anterior tibialis or the posterior tibialis that is the cause
of the deformity. The evaluation should start in the clinic
with a careful physical examination. The confusion test is
helpful in this setting. The patient is asked to flex the hip
against resistance while seated, and the ankle is inspected.
In most children with CP the anterior tibialis fires while the
hip is flexed; this is considered a positive confusion test (Fig.
35-27). However, the reflex has been seen in some children
without CP.149 The examiner should look for the position of
FIGURE 35-26  Typical pedobarograph of a patient with
equinovarus showing decreased hindfoot pressure and excessive
pressure along the lateral border of the foot.

FIGURE 35-27  Confusion test. Anterior tibialis function can be
tested by having the patient flex the hip against resistance. The
anterior tibialis normally dorsiflexes the ankle.
the foot as the anterior tibialis fires. If supination of the
forefoot is seen, the anterior tibialis is most likely contribut-
ing to the equinovarus deformity. If the foot dorsiflexes
without supinating, the equinovarus is less likely to improve
with surgery on the anterior tibialis.
Next, the examiner feels for spasticity in the posterior
tibialis muscle. Passive manipulation of the hindfoot into
valgus while feeling the posterior tibialis tendon can help
the physician appreciate tightness in the posterior tibialis.
The examiner should look at where the varus appears to be
located. Hindfoot varus is most probably caused by overpull
of the posterior tibialis, whereas forefoot supination is more
commonly caused by the anterior tibialis. The examiner
should observe for tension in the anterior tibialis and pos-
terior tibialis during gait; the spastic tendon may be visibly
taut as the patient walks.317
Gait analysis with dynamic EMG can help determine
which muscle is acting inappropriately.296,472,630 Surface elec-
trodes suffice for measuring anterior tibialis activity, but the
posterior tibialis is deep, and a fine wire–needle electrode
is necessary to measure its signal. The anterior tibialis should
be quiet in midstance. Signal from the anterior tibialis
throughout stance phase is indicative of overactivity (Fig.
35-28). The posterior tibialis serves to stabilize the foot
during stance phase. Early-onset signal and prolongation of
the activity during swing phase indicate an abnormality in
control of the posterior tibialis.94 Nearly one third of patients
with equinovarus will show inappropriate activity of both
the anterior and posterior tibialis muscles during gait.393
Some patients with equinovarus feet have preexisting
footdrop during swing phase. When this is seen, either
in the clinic or during gait analysis, further weakening by
anterior tibialis surgery may lead to significant footdrop
postoperatively, and an AFO will be needed.
CHAPTER 35  Disorders of the Brain e23
71.4 Tibialis anterior
mV
0 10 20 30 40 50 60 70 80 90 100
FIGURE 35-28  Electromyographic (EMG) tracing showing activity
of the tibialis anterior muscle during gait in a child with an
equinovarus foot secondary to cerebral palsy. The tibialis anterior
normally fires at foot contact to gradually lower the foot to the
ground and again during swing phase to prevent footdrop. This
EMG tracing shows activity throughout stance phase, occupying
from 0% to 70% of this gait cycle, and lack of activity during
swing phase.
B
A
FIGURE 35-29  A and B, Intramuscular lengthening of the
posterior tibial tendon can be performed in the distal third of the
leg in patients with mild varus deformity.
Posterior Tibialis Tendon Lengthening. Surgical options for
equinovarus deformity start with lengthening of the poste-
rior tibialis tendon, usually done in conjunction with an
Achilles tendon–lengthening procedure in young patients
with mild varus in addition to equinus. The tendon may be
Z-lengthened distally, or preferably intramuscular lengthen-
ing can be performed in the distal third of the calf (Fig.
35-29).538 The patient is placed in a short-leg cast postop-
eratively for approximately 6 weeks. Complications consist
of recurrence of the deformity525 and the development of
postoperative valgus. The posterior tibialis is weakened by
the lengthening, but rebalancing of forces around the foot
does not occur to the same extent as with a tendon transfer.
Yet in many milder cases this is sufficient to obtain a plan-
tigrade foot.
Transfer of the Posterior Tibialis Tendon to the Dorsum.
Anterior transfer of the entire posterior tibialis tendon has
been performed as treatment of equinovarus.244,527 Calca-
neovalgus can be a disastrous result of this procedure and
occurs in up to 68% of patients.568,657 The only published
indication for this procedure is when the posterior tibialis
is completely silent during stance phase and active during
e24 SECTION VI  Neuromuscular Disorders

swing.401,472 Otherwise, the posterior tibialis serves as a dor-
siflexor during stance, and little resistance to the calcaneus
position is offered by the lengthened Achilles tendon. We
do not perform this operation in children with CP at our
hospital.
Split Posterior Tibialis Tendon Transfer. Overcorrection
with complete tendon transfers led to the popularization of
split tendon transfers in children with CP, one of the most
common being that of Kaufer and then Green.236,304 In this
procedure the posterior half of the posterior tibialis tendon
is detached from its insertion, split proximally to a level just
proximal to the ankle, rerouted posterior to the tibia and
fibula, and then woven into the tendon of the peroneus
brevis (Fig. 35-30). The remaining posterior tibialis tendon
attached to the navicular is then balanced by the lateral half
of the transferred tendon, which acts as an evertor. Four
incisions were used in the original description of the opera-
tion. Thompson and colleagues647 described the use of a
Cincinnati incision for this transfer. Usually, an Achilles
tendon–lengthening procedure is also required to treat the
equinus.

Medial malleolus

Navicular

Medial incision

Tendon
sheath

Line of split of
posterior tibial tendon

Neurovascular bundle
(tibial nerve and
posterior tibial artery)

Split posterior
tibial tendon

C
FIGURE 35-30  Surgical technique of split posterior tendon transfer. A, Line of the medial incision. Two smaller incisions may also be used.
B and C, The posterior tibial tendon is split longitudinally and proximally to its musculotendinous junction; the dorsal portion of the
tendon is left intact and attached to the navicular. The retinaculum of the ankle is not divided. Note that the neurovascular bundle and
long toe flexors are gently retracted posteriorly.

The prerequisite for a successful split posterior tibialis
tendon transfer on gait analysis is swing-phase activity
seen on dynamic EMG. Yet several authors have reported
successful series of split posterior tibialis tendon transfers
in which preoperative or postoperative EMG was not
performed.317,599
Usually, patients can walk without orthoses after this
tendon transfer.599 As with any tendon transfer, the defor-
mity must be passively correctable preoperatively for post-
operative correction to be expected. Recurrent varus may
be a complication after split posterior tibialis tendon trans-
fer and generally results from inappropriate selection of
patients with a deformity that is too rigid. Green stated
that overcorrection into valgus has not occurred in their
patients,235 but we have occasionally seen overcorrection in
older patients in our outpatient clinics several years after
tendon transfer.
Transferring the anterior half of the posterior tibialis
tendon anteriorly through the interosseous membrane to
the dorsum of the foot is a variation of the classic posterior
tendon transfer. It is believed that this split transfer might
assist dorsiflexion with less calcaneus deformity than is the
Lateral malleolus
E tendon
FIGURE 35-30, cont’d  D, Lateral view of the foot and ankle showing the line of the lateral skin incision. Here also, two smaller incisions
may be used. E, The peroneus brevis and longus tendons are identified and the tendon sheath is opened to expose the peroneal tendons.
CHAPTER 35  Disorders of the Brain e25
case with transfer of the entire tendon because the posterior
half of the tendon remains intact. Although early studies
have shown promising results, this procedure has yet to be
adopted universally.417,545
Split Anterior Tibialis Tendon Transfer. In split anterior
tibialis tendon transfer (see Plate 35-2), the lateral half of
the anterior tibialis is detached from the base of the first
metatarsal and split up proximal to the level of the ankle.
The tendon is then passed beneath the extensor retinacu-
lum, inserted through a bone tunnel into the cuboid bone,
and tied over a button on the sole of the foot under tension
with the foot positioned in 5 to 10 degrees of dorsiflexion.
Again, the procedure is usually combined with an Achilles
tendon–lengthening procedure. When done in conjunction
with posterior tibialis lengthening, it is known as the Rancho
procedure (Fig. 35-31).
The clinical prerequisite for the procedure is overactivity
of the anterior tibialis causing supination rather than dorsi-
flexion of the foot during the confusion test. Gait analysis
will show inappropriate signal on EMG during stance phase
because of inappropriate activity of the anterior tibialis.269
Lateral incision
Open tendon
sheath
Peroneus longus
tendon
Inferior peroneal
retinaculum
Peroneus brevis
Continued
e26 SECTION VI  Neuromuscular Disorders
Split posterior
tibial tendon
FIGURE 35-30, cont’d  F and G, The split half of the posterior tibial tendon is transferred to the lateral side of the foot by passing anterior
to the neurovascular bundle, long toe flexor tendons, and flexor digitorum longus. It is inferior to the lateral malleolus and deep to the
peroneus brevis tendon.
Patients with profoundly weak anterior tibialis tendons and
notable footdrop should not undergo split anterior tibialis
tendon transfer.
The published results of split anterior tibialis tendon
transfer and split posterior tibialis tendon transfer are
similar and encouraging, with nearly all patients doing
well, brace free, and without overcorrection.521 Pedobaro-
graphs can document the normalization of plantar pressure
after the Rancho procedure (Fig. 35-32). As in posterior
tibialis tendon surgery, if the deformity is not flexible
Hemostat passes suture (with tendon)
behind tibia toward lateral incision
Posterior tibial tendon
passes posterior to tibia
and fibula, anterior to
neurovascular bundle
and toe flexors
Tibia
Fixed half of split posterior tibial tendon
Flexor digitorum longus tendon
Posterior tibial artery and tibial nerve
Flexor hallucls longus tendon
preoperatively, the split anterior tibialis tendon transfer will
not be successful in correcting the deformity.47
Bone Surgery. If the varus deformity of the foot is fixed
and it is thought that lengthening the posterior tibialis
tendon will not provide correction, tendon transfer in and
of itself will be unsuccessful and bone surgery should be
performed. Two choices exist. Heel varus will respond to
calcaneal osteotomy. The calcaneus is approached laterally
and a laterally based wedge of bone is resected.593 Fixation,
 CHAPTER 35  Disorders of the Brain e27

Peroneus brevis tendon

Peroneus longus tendon

J
FIGURE 35-30, cont’d  H and I, The split posterior tibial tendon is brought out into the peroneus brevis tendon sheath, the tension on it
is adjusted, and it is sutured to the tendon as far distally as possible. It is best to weave it through the peroneus brevis tendon. J, Posterior
view of the ankle and hindfoot showing the direction of tendon transfer. It is oblique from its musculotendinous junction above toward
the tip of the lateral malleolus distally and laterally. Continuous contraction of the spastic posterior tibial tendon provides mechanical
stability and control of the hindfoot in neutral position or 5 degrees of valgus inclination.

when used, can consist of a staple or screw to approximate
the osteotomy on the lateral side of the calcaneus. A non–
weight-bearing cast is applied until healing begins.
If the deformity is very severe with a component of
midfoot supination that is rigid, calcaneal osteotomy will be
insufficient and triple arthrodesis should be performed. A
fused position in mild valgus is preferable because it will
provide a broad weight-bearing surface. Pseudarthrosis may
occur, particularly in the talonavicular joint, and may or may
not be symptomatic.285 Degenerative changes in the ankle
and pain limiting ambulation have been reported after triple
arthrodesis. Pain at follow-up correlates with residual defor-
mity, so it is imperative to fuse the foot in an optimal
position.641
Even with bone procedures, muscle imbalance must be
corrected, or the fusion or osteotomy will migrate over time
into recurrent deformity. Frequently, Achilles tendon
lengthening and posterior tibialis lengthening are required,
but some have performed tendon transfers at the time of
osteotomy or fusion.
A word of caution is needed about patients with con-
comitant soft tissue imbalance and tibial torsion. One study
e28 SECTION VI  Neuromuscular Disorders
A B
FIGURE 35-31  A, Preoperative photo of a boy with right hemiplegia and equinovarus foot deformity that is passively correctable. B and
C, Clinical appearance of a foot after a Rancho procedure. The patient is able to walk without the use of an orthosis.
A B
FIGURE 35-32  A, Pedobarograph of a child with equinovarus
showing lack of heel contact and excessive pressure over the fifth
metatarsal. B, Postoperative pedobarograph showing evidence of
heel strike and a more normal pressure distribution with
unweighting of the lateral border of the foot.
found a disturbing preponderance of overcorrected feet
after combined tendon transfer and tibial derotation oste-
otomy. Staging the tibial osteotomy was recommended.349
Pes Valgus
Incidence and Etiology
Valgus deformity of the foot occurs in up to 25% of patients
with CP and is most common in older diplegic and
C
FIGURE 35-33  Patient with spastic diplegia and pes valgus. The
prominent talar head was painful.
quadriplegic patients.61 Equinovalgus deformity develops in
up to 42% of patients with spastic diplegia and up to 68%
with spastic quadriplegia.442 It is usually present bilaterally.
Complaints consist of abnormal shoe wear and pain from
calluses and blisters in the area of the talar head, which
becomes very prominent in the arch of the foot (Fig. 35-33).
Parents note that the ankles appear to roll in as the hindfoot
valgus increases. With time, hallux valgus develops in
response to the everted foot position, which may be painful
(Fig. 35-34).274
Pes valgus can be caused by spastic peroneal muscles,
weakness of the posterior tibialis, or a tight gastrocsoleus,
in any combination. EMG studies have shown that the
peroneals may be continuous or may be phasic but inap-
propriate in pes valgus. The same studies found some chil-
dren in whom the posterior tibialis muscle was silent during

A B
FIGURE 35-34  Clinical photo of the feet of a 17-year-old boy with spastic diplegia. Note the valgus of the left heel, the severe hallux
valgus, and abnormalities in plantar pressure with excessive medial midfoot pressure.
FIGURE 35-35  Lateral radiograph of a patient with pes valgus.
The talus is excessively plantar-flexed.
stance phase, further enabling the peroneals to pull the foot
out into abduction and valgus.57,472,596
Clinical Features and Radiographic Findings
Physical examination should assess for coexisting equinus
or calcaneus deformities. Frequently, the gastrocsoleus
complex will not appear tight on initial examination. The
examiner must be certain to maintain the hindfoot in varus
and then passively dorsiflex the ankle. Valgus will mask
equinus unless this is done. The foot may appear flat in the
standing position, yet the hindfoot may be positioned in
significant equinus, the talar head plantar-flexed, and the
midfoot overly mobile to maintain the plantigrade position.
Midfoot break is the term used to describe plantar flexion
of the talus and calcaneus, a collapsed longitudinal arch, and
dorsiflexion and pronation of the forefoot.
Radiographs should be obtained in the standing position.
Lateral radiographs are most helpful. The position of the
hindfoot can be assessed for equinus or calcaneus deformity,
and plantar flexion of the talus can be appreciated (Fig.
35-35). The navicular moves laterally and is seen as uncov-
ering of the talar head on an anteroposterior radiograph.
Standing radiographs of the ankle should also be obtained.
It is not uncommon to find ankle valgus on an anteroposte-
rior radiograph of the ankle coexisting with hindfoot valgus.
In such cases the fibular physis will migrate proximally and
lie superior to its normal position opposite the joint line of
the distal end of the tibia (Fig. 35-36).
CHAPTER 35  Disorders of the Brain e29
C
Treatment
Treatment is controversial. Conservative treatment should
be vigorously pursued because shoe inserts and orthosis
modifications may be adequate to relieve the pain in some
patients, and therefore surgery can be avoided. As long as
the foot is painless, even orthotic support of the valgus foot
may not be necessary, with some children doing well in
athletic shoes, and in fact symptoms may develop only after
rigid orthoses are placed on their feet.
After conservative measures have been exhausted, surgi-
cal treatment may be considered. If the valgus is thought
to be secondary to contracture of the Achilles tendon, heel
cord lengthening may offer improvement in a young child.
Clinically, these patients will have a normal longitudinal
arch without medial prominence when the ankle is held in
plantar flexion, and valgus becomes apparent as the foot is
dorsiflexed to neutral. With further dorsiflexion, midfoot
break occurs. Aggressive realignment of the valgus foot may
not be required in this group of young patients. Once the
equinus is corrected surgically, postoperative support with
orthoses is needed to control the hindfoot. This treatment
does not work in older children because the valgus becomes
fixed with age.
Tendon lengthening of the peroneals has been studied as
treatment of pes valgus427 but has not been found to be
successful in obtaining and maintaining a plantigrade foot,
with some feet being undercorrected and others drifting
into varus over time.72 Not only can tenotomy of the pero-
neals lead to a varus deformity, but a dorsal bunion of the
first metatarsophalangeal joint can also occur because of the
absence of plantar flexion of the first metatarsal head by
the peroneus longus. Transfer of the peroneus brevis to the
posterior tibialis has also been performed,472 with resultant
overcorrection.220 We do not advocate these procedures.
In valgus deformity, bone surgery is the only predictable
alternative for full and lasting correction. Surgical options
are (1) the Grice extraarticular arthrodesis, (2) lateral
column lengthening of the calcaneal neck, (3) calcaneal
osteotomy, and (4) triple arthrodesis.
Grice Extraarticular Arthrodesis (see Plate 35-3). The
Grice procedure is defined as placement of a structural
graft, such as from the fibula or tricortical iliac crest, into a
shallow trough in the sinus tarsi laterally to elevate the
plantar-flexed talus and correct the valgus of the subtalar
e30 SECTION VI  Neuromuscular Disorders

FIGURE 35-36  A, Radiographic appearance of an adolescent boy with a

hindfoot valgus deformity and pain in the medial arch over the prominent talar
head. B, Standing anteroposterior radiograph of the ankle demonstrating
coexistent ankle valgus that is due to the proximal location of the distal part
of the fibula. The fibular physis lies opposite the distal tibial physis rather
than at the joint line. C, Lateral radiograph obtained 5 months after subtalar
arthrodesis for correction of the hindfoot valgus. D, Medial malleolar
epiphysiodesis with a screw was performed concomitantly to address the
D
valgus of the ankle.

joint.240 The articular surfaces of the subtalar joint are not
resected. The advantage of this operation is that it does not
interfere with growth of the tarsal bones because it is not
a formal arthrodesis. Growth disturbance results from
arthrodesis because the articular surfaces of the tarsals are
growth centers. Grice arthrodesis is often combined with
lengthening of the peroneal tendons or the Achilles tendon,
or both. Grice reported satisfactory results in 79% of
patients (Fig. 35-37).241
Although excellent outcomes after Grice arthrodesis
have been reported,182,336 the results of the procedure are
unpredictable.379,411,537,571 The graft is not inherently stable
in the Grice procedure, and loss of correction because of
dislodgment of the graft is well documented. Bleck pointed
out that the orientation of the graft must be vertical for the
forces through it to be compression rather than rotation. If
the graft is aligned obliquely, dislodgment and fracture
of the graft are likely.72 Failure of the graft to unite and

A B C
undercorrection of valgus at the time of surgery also occur.379
Unsatisfactory outcomes have been reported in 30% to 70%
of patients as a result of uncorrected contracture of the
Achilles tendon, overcorrection into varus, ankle valgus,
and graft nonunion.379,411,571 Although maintenance of good
results and high patient satisfaction at 20-year follow-up in
patients with CP who have undergone Grice arthrodesis
have been reported, a tendency toward ankle valgus was
noted. However, it may have been present at the time of
surgery or may have developed as a result of harvesting the
ipsilateral fibula as graft material.81 At an average 22.6-year
follow-up, Leidinger and co-workers found excellent or
good results in 78% of 51 feet but warned that overcorrec-
tion into varus is poorly tolerated.346
Because of lack of predictable success with the Grice
arthrodesis, several modifications of the original procedure
were proposed. First, the site from which the bone graft is
taken was changed from the fibula to the iliac crest as symp-
tomatic fibular nonunion and progressive ankle valgus were
recognized.277,680 Some groups began inserting bone plugs
or dowels across the sinus tarsi to stabilize the subtalar
joint.88,211,246,485,583 Without internal fixation, graft fracture
and loss of correction are still possible risks because the bone
dowel is placed obliquely to the axis of weight bearing.72,245
Internal fixation using an iliac crest graft helps maintain
the position of the subtalar joint.165 Local bone graft from
the calcaneus has also been used.289 Less loss of correction
occurs with the addition of internal fixation (70% to 95%
satisfactory short-term outcomes), and problems with
screw breakage are very rare. Cancellous bone grafting
accelerates bony fusion. Again, coexisting contractures must
be corrected to improve results.49,203,249,289 Alman and asso-
ciates used K-wires rather than a screw to maintain subtalar
joint position while the graft healed, with good results in
48 of 53 feet.24 Bioabsorbable screws were used in an
extraarticular subtalar arthrodesis with comparable results
in one small series, but this technique must be considered
investigational at present.461
Lateral Column (Calcaneal) Lengthening. Lateral column
lengthening was first described by Evans194 and has enjoyed
recent popularity after a series by Mosca.414 Mosca per-
formed the procedure to correct pes valgus in 31 feet,
including 26 procedures done for valgus secondary to CP
and myelomeningocele.414 Correction is achieved by length-
ening the neck of the calcaneus to tighten the plantar fascia
and reduce the lapsed talonavicular joint. The procedure is
summarized in Plate 35-4 and the following text.
CHAPTER 35  Disorders of the Brain e31
FIGURE 35-37  A, Weight-bearing lateral
radiograph of a patient with pes
equinovalgus. B, Radiograph obtained
8 months after Achilles tendon lengthening
and Grice extraarticular arthrodesis.
C, Lateral radiograph obtained 3 years,
6 months postoperatively.
The calcaneus is approached through an oblique incision
laterally that follows the skin lines. The peroneal sheath is
incised and the tendons are retracted. The lateral dorsal
cutaneous nerve is identified and protected. The extensor
digitorum brevis is reflected from the lateral surface of the
calcaneus and the sinus tarsi. Subperiosteal exposure of the
distal portion of the calcaneus is achieved, and the calcaneo-
cuboid joint is identified but its capsule is left intact. An
osteotomy is created 1.5 cm proximal to the calcaneocuboid
joint, in the area between the anterior and middle facets.
The osteotomy is opened laterally, and a tricortical iliac crest
graft is inserted into the osteotomy. Care is taken to prevent
dorsal subluxation of the distal calcaneus or calcaneocuboid
joint, and pinning of the osteotomy and the calcaneocuboid
joint is performed when needed. Reefing of the posterior
tibialis and medial talonavicular capsule is done when laxity
persists. Nearly always, the Achilles and peroneal tendons
must be lengthened to attain a plantigrade foot. If the fore-
foot is supinated following lengthening of the calcaneus, a
plantar-based closing wedge osteotomy of the medial cunei-
form may be necessary to obtain a plantigrade foot. The foot
is then immobilized in a non–weight-bearing, short-leg cast.
Published series have reported very good results in
patients with flatfoot deformity and valgus of different
origins, including CP, myelomeningocele, and idiopathic pes
planovalgus (Fig. 35-38).414,482 The preoperative rigidity of
the foot does not always correlate with the postoperative
result. Several patients continued to use orthoses after
surgery, but pain relief and resolution of the talar head callus
or blisters were common. Objective results obtained via
pedobarography show improvement in plantar pressure
following lateral column lengthening in comparison to
extraarticular subtalar arthrodesis in patients with CP.459
Complications consisted of graft dislodgment and dorsal
subluxation of the calcaneocuboid joint.9 Contraindications
to the procedure are advanced osteoarthrosis and the pres-
ence of other bony deformities of the foot.414 Poor results
are unusual but are generally caused by recurrence of pla-
novalgus, which is less likely in patients who are indepen-
dent walkers and have mild to moderate deformity.27,436
Overcorrection into varus because of spasticity of the tibi-
alis posterior has been described.691
Calcaneal Osteotomy. Another surgical option for a child
with pes valgus secondary to CP is the calcaneal osteotomy
described by Dwyer.185 An osteotomy is performed obliquely
from the sinus tarsi to the posterior margin of the calcaneus.
Either a medial wedge can be resected or the lateral side
e32 SECTION VI  Neuromuscular Disorders
C
can be propped open as an opening wedge and bone-
grafted.591,592 Additionally, a sliding osteotomy can be per-
formed in which the distal inferior fragment of the calcaneus
is moved medially to reestablish the heel directly beneath
the axis of weight bearing.327,502 The advantage of these
calcaneal osteotomies is that they preserve motion of the
subtalar joint.510 Up to 94% good or excellent results have
been reported.323 A contraindication to surgery is severe
rigid valgus deformity, which is best treated with triple
arthrodesis. A bone abnormality or malalignment in the
midfoot or forefoot will not be amenable to treatment with
a single osteotomy through the calcaneus because realign-
ment of the calcaneus and hindfoot could exacerbate the
deformity more distally in the foot. In these feet, triple
FIGURE 35-38  A and B, Preoperative anteroposterior
(AP) and lateral radiograph of the foot of a 17-year-
old girl with right hemiplegia and painful pes valgus.
C and D, AP and lateral radiographs after lateral
column lengthening.
arthrodesis or more complex osteotomies such as the
calcaneal-cuboid-cuneiform osteotomies described by
Rathjen and Mubarak will correct deformity at more than
one level in the foot.502
Subtalar Arthrodesis. Subtalar arthrodesis has been pro-
posed to provide long-lasting correction of symptomatic pes
equinovalgus. The articular surfaces of the subtalar joint are
resected. Tricortical autograft from the iliac crest or allograft
can be used to achieve fusion and improve hindfoot posi-
tion, followed by screw fixation of the subtalar joint (Fig.
35-39). A large series from the Dupont Institute found good
results in 96% following subtalar arthrodesis at an average
4.8-year follow-up.580

A B
Figure 35-39  A, Lateral foot radiograph of a 13-year-old, Gross Motor and Functional Classification System level 2 girl with spastic
diplegia and symptomatic equinovalgus. Note the prominence caused by the plantar flexion. B, Lateral radiograph after subtalar fusion.
The position of the foot is improved and the pain resolved.
Triple Arthrodesis. Triple arthrodesis may be necessary for
severe rigid symptomatic pes valgus in an adolescent with
CP (Fig. 35-40). By resecting the subtalar, calcaneocuboid,
and talonavicular joints, the growth of these bones is dis-
turbed, which leads to a small, shortened foot in younger
patients. In adolescents, however, a well-corrected triple
arthrodesis can yield a stable plantigrade foot for future
ambulation. Indications for triple arthrodesis are pain, skin
ulcerations over the talar head, and deformity interfering
with shoe wear or ambulation in a child with a severe defor-
mity not amenable to osteotomy. Valgus alone without dis-
abling symptoms does not merit triple arthrodesis.
The technique used is identical to that performed in the
nonneuromuscular population.273,335 Wedges of bone are
resected with the articular surfaces, and internal fixation is
performed when the bones are sufficiently strong. Screws
or staples can be used. A short-leg, non–weight-bearing cast
is applied, followed by a walking cast and then an orthosis
until the fusion is mature.
Satisfactory outcomes are achieved when the deformity
is well corrected.285 Postoperative malalignment usually
results from undercorrection of the valgus deformity at the
time of surgery.575,641 It is technically more challenging to
perform a perfect triple arthrodesis for a valgus foot than
for a varus foot, and it is particularly difficult to achieve
fusion at the talonavicular joint.285 When visualization of
the talonavicular joint is compromised, it is advised that
a second medial incision be made to complete the joint
resection.
Patients are generally satisfied with the results of triple
arthrodesis, and rarely is talonavicular joint pseudarthrosis
sufficiently symptomatic to interfere with function or
necessitate further surgery. Degenerative changes have been
documented in the ankle joint at an average of 18 years
after triple arthrodesis in 43% of the pediatric population,
but functional limitations in this group of patients are
unusual.10,601,641
Triple arthrodesis has also been used at our institution
for the treatment of severe fixed deformity in nonambula-
tory patients who cannot wear shoes. The bony wedges
resected in such cases are quite large, but patients and
parents have been pleased with the improvement in the
position of the feet and the ability to wear shoes in
public.
CHAPTER 35  Disorders of the Brain e33
Frost and associates202a have described triple arthrodesis
combined with lateral column lengthening in patients with
rigid planovalgus, but the authors have no experience with
this procedure.
Arthroereisis of the Subtalar Joint. With this technique the
joint is propped open laterally, the talus is reduced on the
calcaneus, and stabilization is achieved by inserting either a
staple or a polyethylene peg spacer. Lasting improvement
in the pes valgus has been noted in 85% to 96% of children
treated before 6 years of age.129 However, other authors
have discontinued its use because of the rates of revision
and arthrodesis required.555,667 Bleck observed lucency
around the staple on radiographs of patients and did not
recommend this technique.72
We have no experience with this technique and do not
recommend it.
Ankle Valgus
In patients with neuromuscular disease, valgus alignment of
the ankle often develops and can contribute to the overall
valgus deformity of the foot. Before surgical correction of
pes valgus is undertaken, radiographs of the ankle with the
patient standing should be obtained. Valgus of the ankle is
present when the physis of the distal end of the fibula is
located proximal to the distal tibial articular surface.
Surgical correction of ankle valgus is performed by either
epiphysiodesis or osteotomy. Hemiepiphysiodesis of the
distal medial aspect of the tibia provides gradual correction
by tethering the medial malleolus and medial tibia while
allowing growth of the fibula and lateral distal aspect of the
tibia (Video 35-1). Three techniques have been used. When
permanent hemiepiphysiodesis is desired, such as in a child
approaching the end of growth, open epiphysiodesis of the
medial malleolus is performed. If the surgeon anticipates
full correction before cessation of growth, a more tempo-
rary epiphysiodesis effect may be desired. In such cases,
hemiepiphysiodesis using staples or a vertical medial mal-
leolar screw will tether growth laterally but allow resump-
tion of growth on removal of the implants.153,622 Staples in
thin children with CP may be quite prominent and can
cause rubbing on orthoses and result in skin problems
or pain, so we have used the screw technique of late.
The procedure can be performed percutaneously, and
e34 SECTION VI  Neuromuscular Disorders
A B
C
FIGURE 35-40  A to C, Triple arthrodesis for a severe fixed painful valgus deformity in a nonambulatory girl with cerebral palsy.
immobilization is unnecessary. Although we have seen
growth out of valgus with the medial malleolar screw, our
experience is too new to definitively comment on growth
after screw removal. Others reported correction with
minimal morbidity and further growth after hardware
removal. Some patients required replacement of the screw
for recurrent valgus.153
When immediate correction of the valgus is desired,
distal tibial osteotomy is useful. Internal fixation allows
precise realignment. Usually, a closing wedge osteotomy of
the distal end of the tibia, combined with distal fibular
osteotomy, is performed.
Hallux Valgus
Hallux valgus in patients with CP develops in response to
an equinovalgus deformity of the hindfoot. Spasticity of the
peroneus longus leads to progressive eversion and abduction
of the foot, which results in lateralization of the origin of
the adductor hallucis muscle and subsequent increasing pull
of the proximal phalanx of the great toe into adduction.
When combined with external tibial torsion, the toe is
pushed laterally as weight is borne by the everted forefoot.
The first toe comes to lie beneath the second toe. The head
of the first metatarsal becomes uncovered as the toe devi-
ates laterally, and a painful bunion develops70 (see Fig.
35-34). Patients complain of discomfort and swelling over
the prominent head of the first metatarsal and difficulty
wearing shoes.
Before undertaking surgical correction of hallux valgus in
a child or adolescent with CP the child should be examined
for concomitant malalignment of the tibia and foot. If the
bunion is corrected but the external tibial rotation and
 CHAPTER 35  Disorders of the Brain e35

A B C
FIGURE 35-41  A to C, Hallux valgus in a 14-year-old girl with spastic diplegia treated by metatarsophalangeal fusion.

crouch or pes valgus is not corrected, the hallux valgus

deformity is likely to remain symptomatic. When the hallux
valgus is mild, surgical treatment of the pes valgus will halt
progression of the toe deformity.
When the bunion is symptomatic, soft tissue realign-
ment, including release of the adductor hallucis tendon
and lateral capsulotomy of the first metatarsophalangeal
joint, combined with first metatarsal osteotomy and proxi-
mal phalangeal osteotomy, has been described.70,220 First
metatarsophalangeal joint fusion using the technique of
McKeever has shown better results and less recurrence.288,511
The preferred position for fusion is 15 to 25 degrees of
dorsiflexion and slight valgus.203,388 Patient satisfaction is
high after metatarsophalangeal fusion for hallux valgus.150
We prefer first metatarsophalangeal arthrodesis for the
surgical treatment of hallux valgus in patients with CP (Fig.
35-41). We use internal fixation with screws whenever pos- FIGURE 35-42  Painful bilateral dorsal bunions in a child with
sible. In the rare cases in which pseudarthrosis occurs, revi- spastic quadriparesis.
sion surgery with additional internal fixation has been
successful.
with a closing wedge plantar flexion osteotomy of the first
Dorsal Bunion metatarsal.70,220,387
A dorsal bunion is a rare deformity in which the first meta-
tarsal head is elevated but the great toe is plantar-flexed,
thereby leading to dorsal prominence of the metatarsal head Management of Knee Involvement
(Fig. 35-42). The cause is usually iatrogenic and occurs after in Cerebral Palsy
surgical procedures meant to balance the foot. It is argued Hamstring Lengthening
whether the primary deforming force is overpowering of a
weak peroneus longus by the tibialis anterior or overpower- Clinical Features
ing of a weak extensor hallucis and gastrocsoleus by the The hamstrings are nearly always affected in patients with
flexor hallucis. Symptoms include pain over the prominence CP. Spasticity or contracture in the hamstrings is generally
with footwear. Surgery entails rebalancing the pull on the the cause of a crouch knee gait, but quadriceps and gastroc-
great toe by transfer of the flexor tendon to the extensor, soleus weakness may also lead to excessive knee flexion
by flexor tendon tenotomy with or without anterior tibialis in stance phase.12,631 Findings during gait analysis include
transfer, by transfer of the flexor hallucis brevis to the greater than normal knee flexion during midstance and an
metatarsal neck, or by a combination of these techniques inability to extend the knee fully at the end of swing phase
e36 SECTION VI  Neuromuscular Disorders

and continuing into initial contact (Fig. 35-43). Step length
then decreases as the knee loses excursion. Increasing
demand is placed on the quadriceps to resist the progressive
crouch, and energy expenditure during gait rises.471 The
quadriceps and patellar tendon stretch, and patella alta and
anterior knee pain may result. In severe cases, knee flexion
contracture leads to failure of the extensor mechanism and
fracture of the inferior pole of the patella (Fig. 35-44).453,520,577
It is important to note that the hamstrings cross two
joints, the hip and the knee. At the hip the hamstrings serve
as hip extensors,669 whereas at the knee they serve as knee
flexors. The medial hamstrings also produce some dynamic
internal rotation of the hip during gait.
Clinically, hamstring spasticity can be measured via the
popliteal angle. The patient is positioned supine on an
examining table and the hip is flexed to 90 degrees. The
ipsilateral flexed knee is then extended, and the angle
between the vertical and the position to which the tibia may
be extended is the popliteal angle (Fig. 35-45). Normal
popliteal angles are variable, with a mean value of 26 degrees

FIGURE 35-43  Clinical appearance of a 13-year-old boy with

spastic diplegia in crouch gait. He walks with increased hip FIGURE 35-44  Lateral radiograph of the knee of a teenager with
flexion, knee flexion, and calcaneus at the ankles, primarily spastic diplegia showing fracture of the inferior pole of the patella.
because of spasticity of the hamstrings. No traumatic incident was noted.

60°

A B

FIGURE 35-45  The Holt method of determining hamstring contracture. A, With the contralateral hip in extension, the tested limb is
flexed to 90 degrees at the hip and the knee is extended passively. The angle between the anterior aspect of the leg and the axis of
the thigh determines the degree of hamstring contracture. Bleck measures the angle on the popliteal surface between the leg and thigh.
B, The popliteal angle of the left leg measures 70 degrees.

FIGURE 35-46  Method of determining hamstring tautness by
straight-leg raising. The knee should be in complete extension and
the pelvis should be stabilized. The angle between the lower limb
and the examination table is measured.
FIGURE 35-47  Fixed knee flexion contracture in a teenage boy
with spastic diplegia. Serial casts were required to correct the
contracture after hamstring lengthening.
in normal children 4 years and older.303 Values greater than
50 degrees in this age range are considered abnormal. A
decrease in the angle of straight-leg raising is also seen in
those with tight hamstrings (Fig. 35-46).
In severe hamstring contracture, a fixed knee flexion
contracture develops (Fig. 35-47). It is important to assess
for a fixed contracture because the presence of a contrac-
ture may lead to disappointing results after hamstring
lengthening. When the contracture is most severe, the
patient becomes unable to flex the hips, and a poor sitting
posture with lumbar kyphosis and a slumped position results
(Fig. 35-48). Lack of lumbar lordosis can be seen radio-
graphically in patients with increased popliteal angles.380
As discussed earlier in the section on equinus, the exam-
ining physician must carefully assess other joints for spastic-
ity and contracture. A bent-knee gait may be a compensation
for equinus and toe-walking if the popliteal angle is normal.
The hip must also be examined because correction of ham-
string contractures without treating concomitant hip flexion
contractures leads to increased hip flexion and anterior
pelvic tilt during gait. Rotational malalignment such as
excessive internal hip rotation or external tibial torsion
should also be evaluated.
CHAPTER 35  Disorders of the Brain e37
FIGURE 35-48  Hamstring tightness can lead to an inability to flex
the hips sufficiently to sit. The patient then thrusts forward in the
chair and sits with lumbar kyphosis.
Treatment
Orthotic Management. Mild tightness in the hamstrings
may respond to orthotic management, usually with ground
reaction AFOs. The posterior push on the knee from the
brace in stance phase can improve mild crouch without
fixed contracture. Excessive internal femoral or external
tibial rotation can render ground reaction AFOs less useful.
KAFOs are rarely prescribed in those with CP because they
generally make walking more difficult and cumbersome.
Botox has been tried in patients with a flexed-knee gait.
Short-term improvement in the popliteal angle and
maximum knee extension can occur.123
Surgical Technique. Historically, transfer of the medial and
lateral hamstring tendons to the posterior femoral condyle
has been performed for correction of crouched gait but has
fallen out of favor because genu recurvatum was a frequent
complication (Fig. 35-49). Release of the proximal ham-
string off the ischial origin has also been described, but
hyperlordosis of the spine and anterior pelvic tilt occur
frequently.179,584,585 Patients at greatest risk had hip flexion
contractures of 25 degrees or greater. Proximal release is
not recommended in patients who are able to walk. Proxi-
mal hamstring release in nonambulatory patients is dis-
cussed further in the later section “Soft Tissue Release for
Subluxation or a Hip at Risk.”190
Surgical lengthening of the distal hamstrings is the pre-
ferred surgical treatment of crouched-knee gait and is
usually performed in combination with other procedures.
The technique of hamstring lengthening varies among sur-
geons. We prefer an open approach to perform intramuscu-
lar aponeurotic lengthening of the semimembranosus,
Z-lengthening of the semitendinosus, and either tenotomy
or Z-lengthening of the gracilis at a level proximal to the
knee. When the lateral hamstrings are included in the pro-
cedure, intramuscular aponeurotic lengthening of the biceps
e38 SECTION VI  Neuromuscular Disorders
a
a tinued to walk in excessive knee flexion and advocated for
b patellar tendon advancement as treatment of the quadriceps
b
c advancement.258 Satisfactory results following shortening
c and transfer of the hamstrings to the femur have also been
A B
FIGURE 35-49  Eggers transfer of hamstrings to the femoral
condyles. a, Quadriceps femoris muscle; b, hamstring muscles;
c, soleus muscle. A, Before the procedure. B, After the procedure.
(Redrawn from Eggers GNM: Transplantation of hamstring
tendons to femoral condyles in order to improve hip extension
and to decrease knee flexion in cerebral spastic paralysis. J Bone
Joint Surg Am 34:827, 1952, with permission from The Journal of
Bone and Joint Surgery, Inc.)
femoris is done (see Plate 35-5). Usually, two cuts are
needed in the fascia of the semimembranosus and biceps
femoris for adequate lengthening. Medial hamstring length-
ening suffices in ambulatory patients with mild to moderate
crouch and increased popliteal angles. The addition of
lateral hamstring lengthening further improves maximum
knee extension during stance phase and is therefore helpful
with more severe crouch and in patients with knee flexion
contractures. The addition of lateral hamstring lengthening
does increase the risk for knee hyperextension, however,
especially in patients with spastic gastrocsoleus muscles.308
The popliteal angle is gently rechecked, and adequate
lengthening has been accomplished when the angle is
reduced to around 20 to 30 degrees. Percutaneous tech-
niques to release the semitendinosus and gracilis have
been described; lengthening of the semimembranosus and
biceps femoris was performed via an open approach in
this study.223
Patients with severe crouch and fixed knee flexion con-
tractures present a surgical challenge. Although improve-
ment can be expected after medial and lateral hamstring
lengthening, rarely can the crouch be eliminated. Posterior
capsulotomy has been described, but newer alternatives
may provide simpler and safer correction.55,337 Great care
should be taken to prevent sciatic nerve palsy in these cases.
Serial casts can be used to progressively extend the knees
in an awake child after hamstring release.671
Bone surgery has become accepted as a safer procedure
for patients with CP who have fixed flexion contractures or
those who have previously undergone hamstring lengthen-
ing.258,438,623 Shortening extension osteotomy of the distal
end of the femur is useful in improving crouch at the knee
in older children and teens who have previously undergone
hamstring lengthening and who have knee flexion contrac-
tures. Pediatric implants such as a pediatric condylar blade
plate provide stable fixation and enable earlier mobiliza-
tion.540 Stout and colleagues studied a group of 74 patients
who underwent distal femoral extension osteotomy with or
without patellar tendon reefing and a group that underwent
patellar tendon reefing without osteotomy. They found that
patients who did not undergo patellar tendon reefing con-
insufficiency.438,623 Furthermore, they advocated that ham-
string lengthening is not generally necessary when perform-
ing distal femoral extension osteotomy with patellar tendon
femoral osteotomy combined with patellar tendon reefing
reported in older children and adolescents who were ambu-
latory but had severe crouch gait.295 These publications have
in common the need to shorten the femur to gain knee
extension but protect the sciatic nerve, which is at risk for
postoperative palsy in patients with significant crouch gait.
Although extension osteotomy can immediately correct a
fixed flexion contracture of the knee, recurrence of defor-
mity in time has been seen even following osteotomy.164
A preliminary report on the use of anterior distal femoral
staples or plating to gradually correct knee flexion contrac-
tures via guided growth principles shows possible utility.329
Guided growth may be preferable to extension osteotomy
in skeletally immature patients with fixed knee flexion con-
tractures.315,366 Tension band plates are placed medial and
lateral to the patella, centered at the physis (Fig. 35-50).
Postoperative Care. In the past we always used a long-leg
cast in the postoperative period after hamstring lengthen-
ing. Currently, if the knee can be fully extended with ease
after surgery, a knee immobilizer can provide sufficient
immobilization for 3 or 4 weeks. Early weight bearing and
ambulation are encouraged in physical therapy because a
child who becomes nonambulatory in the immediate post-
operative period loses strength and has more difficulty when
immobilization is discontinued.
Results. Improvements in knee extension during stance
phase are expected. The greatest improvements in the knee
flexion contracture are seen within 1 year after surgery. As
a rule, the greater the contracture, the greater the degree
of correction.145 A significant number of children improve
at least one level in their ability to walk after hamstring
lengthening, with up to 39% of preambulatory patients
becoming able to walk at least around the house.145,167
Quadriceps and hamstring strength has been found to be
initially reduced after surgery but returned to preoperative
values by 6 months and then improved by 9 months to 1
year after surgery.141,508 Mild improvement in internal hip

A B
FIGURE 35-50  A and B, Growth modulation plates applied for residual flexion contracture of the knee following revision hamstring
lengthening in a 10-year-old boy with spastic diplegia. C, One year following implantation, the distal end of the femur has grown into
extension as evidenced by change in screw trajectory.
rotation is seen following hamstring lengthening, but it is
insufficient to address the increased femoral anteversion
that results in an intoeing gait.359
Complications. Frequently, anterior pelvic tilt increases
after hamstring lengthening as a result of weakening of the
hamstrings. Because the hamstrings are also hip extensors,
weakness leads to more relative hip flexion as a result of
muscle imbalance and to forward tilt of the pelvis and
trunk. Medial hamstring transfer to the femur was per-
formed in a small series of children undergoing SEMLS
procedures to preserve the hamstrings’ function as hip
extensors. Knee hyperextension was seen in 12.5% follow-
ing this procedure but was addressed by orthotic modifica-
tions.365 DeLuca and colleagues found that if just the medial
hamstrings were lengthened, anterior pelvic tilt did not
occur, but if the medial and lateral hamstrings were length-
ened without psoas surgery, the pelvis did tip anteriorly.161
Muscle length modeling has been performed for the ham-
strings and psoas in crouch gait and has shown that the
hamstrings are not usually particularly short because they
also cross the hip whereas the psoas is often shortened.157
If a hip flexion contracture is present, it must be surgically
lengthened as well to minimize the postoperative tendency
toward more hip flexion.272
Postoperative gait analyses have also shown that exten-
sion at the knee may be improved, but rarely normalized,
following hamstring with or without rectus surgery but
that residual crouch at the knee will contribute to the
development of calcaneus at the ankle with loss of push-off
power during walking. In children with significant knee
flexion preoperatively in whom it is predicted that knee
position will be improved but full extension not achieved,
extreme caution should be taken with any Achilles
CHAPTER 35  Disorders of the Brain e39
C
tendon–lengthening procedure because further loss of ankle
power will worsen the tendency toward a postoperative
calcaneus gait.62
Yet another complication of hamstring lengthening may
be stance-phase hyperextension of the knee. Patients with
a preoperative “jump knee” pattern, described as increased
knee flexion at initial contact but extension of the knee
in midstance because of the ankle plantar flexor–knee
extensor couple, are particularly prone to this outcome.11,177
It can occur with medial hamstring lengthening even
after rectus femoris transfer in this group at risk. In such
patients, postoperative bracing with an AFO to maintain
ankle dorsiflexion can be helpful in minimizing the knee
hyperextension.
On occasion, hamstring lengthening can lead to palsy of
all or part of the sciatic nerve (Fig. 35-51). A mathematic
equation is available to predict how much straightening can
be performed safely, but clinical judgment in not aggres-
sively stretching the posterior structures of the knee in
patients with significant contractures is required.35 Intraop-
erative EMG shows diminution of amplitude with progres-
sive extension of the knee, particularly when the hip is
flexed during surgery.302 Hip flexion (i.e., long sitting at 90
degrees) with the knees extended in casts can further
stretch the sciatic nerve.12 In our experience, partial or
complete sciatic nerve palsy occurred in 9.6% of patients
following hamstring lengthening (as part of the SEMLS
approach). Patients most at risk were older and had impair-
ment in communication. Nonambulatory patients were
most at risk.301 Postoperative nerve palsy is extremely dif-
ficult to manage. Casts must be removed and the knee
allowed to flex as soon as the nerve palsy is recognized.
Simply splitting the cast does nothing to relieve stretch on
the nerve. Medical management of the painful paresthesias
e40 SECTION VI  Neuromuscular Disorders

FIGURE 35-51  A and B, Fourteen-year-old

boy who is minimally ambulatory with severe
crouch at the hip and knee and fixed knee
flexion contractures. Hamstring lengthenings
led to dysesthesias in his feet postoperatively, A B
which resolved over time.

is often necessary with medications such as amitriptyline Knee flexion/extension

(Elavil) or gabapentin (Neurontin). Prevention of excessive 75
stretch is important in older children with knee flexion
contractures, which has led to popularization of shortening 60
extension osteotomy of the distal end of the femur in
such cases. 45
Flexion
Degrees

It is common to also see a decrease in flexion of the knee

30
in swing phase as a result of spasticity of the rectus femoris
muscle after hamstring lengthening.645 Normally, the knee
15
should flex at least 60 degrees in swing phase, and this
flexion occurs early in swing phase.205,209,632 As a muscle that 0
crosses two joints, the rectus acts to flex the hip at initial
Ext.

swing and to extend the knee.469 Preoperative EMG will

often show inappropriate electrical activity in the rectus
femoris during midswing. Gait analysis in affected patients
shows a decrease in the amount of swing-phase knee flexion
and a delay in when the peak swing-phase knee flexion
occurs (Fig. 35-52).645 When severe, it leads to problems
clearing the foot in swing phase and thereby results in trip-
ping and dragging the toe. Patients may complain of diffi-
culty climbing stairs or stepping up onto a street curb or in
moving from a standing position to a seated position and
vice versa, known as transitional movements.
Spasticity in the rectus femoris can also be tested for
during physical examination. The Duncan-Ely test is per-
formed by positioning the patient prone and then flexing
the knee to 90 degrees. If the rectus femoris is spastic, the
ipsilateral buttock will rise from the table as a result of the
hip flexion caused by the rectus (Fig. 35-53). Patients with
normal Duncan-Ely test results are unlikely to benefit from
rectus transfer.307 Unfortunately, this test is not specific for
the rectus because a patient with a hip flexion contracture
secondary to tightness of the iliopsoas will also have a posi-
tive Duncan-Ely test. Another clinical measure of rectus
spasticity is rectus grab. With the patient supine on the
examining table, the knee is rapidly flexed. If resistance is
felt, the rectus is spastic.
–15
0 25 50 75 100
Percentage of gait cycle
FIGURE 35-52  Hamstring spasticity leads to an inability to extend
the knee and accept weight at initial contact (which occurs at 0%
of the gait cycle). When the rectus femoris is spastic, the knee is
unable to flex rapidly at initial swing phase, which is to the right
of the vertical lines. The amount of swing-phase knee flexion
is decreased, and its timing is delayed. Normal kinematics is
depicted by the black dotted curve and that of a child with spastic
diplegia by the red curve. Vertical lines designate divisions between
the stance and swing phases.
A symptomatic stiff-knee gait from overactivity of the
rectus femoris during swing phase does not develop in all
patients after isolated hamstring lengthening.12,145,146,167,276,626
Although Damron and colleagues found that 71% of patients
lost some knee flexion in swing phase after hamstring
lengthening, only 13% of ambulatory patients required
rectus transfer for correction of stiff-knee gait.146 Dhawlikar
and colleagues described recurvatum after distal hamstring
lengthening and a need for subsequent rectus femoris trans-
fer in 17% of their patients.167

A B
FIGURE 35-53  A and B, The Duncan-Ely test. With the patient prone, the knee is passively flexed. A positive result occurs when the
ipsilateral buttock rises, which may indicate rectus femoris spasticity.
Rectus Femoris Transfer
Indications
Surgical treatment of stiff-knee gait and inability to flex the
knee in swing phase consists of rectus femoris transfer.209
This procedure is often performed simultaneously with
hamstring lengthening and other soft tissue procedures but
has also been performed in isolation in children without
crouch but with stiff-knee gait.103 The principle behind
rectus transfer is to preserve the role of the rectus femoris
as a hip flexor but to move the distal rectus insertion pos-
terior to the axis of the knee to eliminate its role as an
inappropriate knee extensor during swing phase. Release of
the proximal rectus femoris was studied but found to
increase swing-phase knee flexion less than after distal
transfer of the rectus tendon.633 Release of the rectus from
the patella with mobilization of the muscle was also deter-
mined to be ineffective in treating loss of knee flexion in
swing, probably because of readherence to the underlying
quadriceps postoperatively.110,456 Neither of these proce-
dures physically moves the distal part of the rectus posterior
to the knee joint, which may be the reason why they do not
work as well as rectus transfer. Riewald and Delp measured
knee moments after rectus transfer and did not see that the
rectus generated a knee flexor moment after surgery.515 MRI
of the trajectory of the transferred tendon likewise does not
support change of the rectus to a knee flexor.32,33 Regardless,
rectus transfer has been found to increase swing-phase knee
flexion by an average of 16 degrees.209 When rectus transfer
is combined with a hamstring-lengthening procedure,
dynamic range of motion and crouch improve without loss
of swing-phase knee flexion.248,513
Surgical Technique (see Plate 35-6 and Video 35-2)
An incision is made superior to the proximal pole of the
patella.205 Many incisions have been described, but we
prefer to use a short transverse incision two to three finger-
breadths above the patella.462 Through this cosmetic inci-
sion the rectus femoris is dissected off the underlying vastus
intermedius. Distally, the two muscles and their tendons are
adherent, so it is easier to start the dissection more proxi-
mally, where the tissue plane can be identified. The vastus
lateralis and medialis also converge distally at the patellar
insertion of the quadriceps tendon. Care must be taken to
CHAPTER 35  Disorders of the Brain e41
preserve these two muscles as well. Once the rectus femoris
is dissected from the other parts of the quadriceps, the
tendon is divided transversely just proximal to the superior
pole of the patella, again taking great care to leave the
tendon of the rest of the quadriceps undisturbed. A sturdy
stitch is woven into the tendon of the rectus femoris, and
a subcutaneous tunnel is made to the site of transfer. The
tendon is then passed medially, usually through the poste-
rior wound used for concomitant hamstring lengthening,
and the rectus is sewn into the stump of the gracilis tendon,
the sartorius muscle, or the lengthened semitendinosus.
The remainder of the quadriceps tendon is then repaired
by suturing the vastus lateralis to the medialis over the
intermedius.
Postoperative Care
Postoperative care consists of either a long-leg cast or knee
immobilizer, and early weight bearing and ambulation are
encouraged, as for hamstring lengthening.
Results
Abundant research investigating the outcome of rectus
femoris transfer has been published. First, the preferred site
for transfer was studied by Ounpuu, Gage, and others.
Although it was hypothesized that rotation of the hip would
become more external if the tendon were transferred medi-
ally and more internal if the tendon were transferred later-
ally, they found that rotation of the femur did not change,
regardless of where the tendon was transferred.455 The site
for tendon transfer is based on the surgeon’s preference and
the existence of wounds from other concomitant surgeries
such as simultaneous hamstring lengthening.425 Miller trans-
fers the rectus to the sartorius, whereas Gage prefers to
transfer it to the gracilis.115,398 Aiona and Sussman trans-
ferred the rectus to the iliotibial band in a group of patients
and found the results to be identical to those from a group
in which the rectus was reattached to the medial hamstring
tendons.259 It appears that the results of transfer of the
rectus tendon do not depend on the anchor site.
Results on the role of EMG in determining whether a
stiff-knee gait will occur after hamstring surgery and in
predicting the outcome of rectus femoris transfer are con-
flicting. Preoperative EMG of the rectus femoris and vastus
lateralis has not been shown to be predictive of the amount
e42 SECTION VI  Neuromuscular Disorders
of peak swing-phase knee flexion after rectus release or
transfer.110 Miller and co-workers found that the best results
were achieved in patients who had phasic but inappropriate
rectus activity in swing phase on EMG.398 Patients with less
than 80% of normal preoperative dynamic range of knee
motion (i.e., stiff knees preoperatively) benefit from rectus
transfer more so than do those with nearly normal motion.425
Other predictive variables used to study rectus femoris
transfer include walking speed, dynamic range of motion,
and joint kinetics. Patients whose walking speed is at least
80% that of age-matched normal subjects walk better after
rectus transfer than do their slower counterparts.154 It is
therefore logical that independent ambulators would have
better results than walker-dependent or exercise ambula-
tors.689 This has been substantiated in a study by Rethlefsen
and colleagues, who found poor results following rectus
transfer in children who were GMFCS level 4 before
surgery because of worsened crouch.514 Patients with 80%
or more of normal dynamic range of motion of the knee on
preoperative gait analysis do not appear to benefit from
rectus transfer,456 whereas patients with good power genera-
tion at the ankle and hip do best with rectus transfer.205 If
a patient has difficulty initiating swing phase and cannot
powerfully flex the hip to lift it from the ground, little
momentum is available to produce swing-phase knee flexion.
If power is satisfactory, however, sufficient momentum is
present to allow knee flexion if the rectus femoris spasticity
does not interfere—hence the better results for transfers in
the presence of good joint power. Inferior outcomes have
been described in patients who underwent rectus transfer
but had rotational abnormalities exceeding 8 degrees.209 If
the knee and feet are not pointing straight ahead, swing-
phase knee flexion does not occur in the sagittal plane and
rectus transfer is not optimal.
Cruz and coauthors in 2011 published the results of 42
patients treated by intramuscular lengthening of the rectus
femoris. Using gait analysis, they found similar results as
seen following rectus transfer after this simpler proce-
dure.134 Further study comparing rectus lengthening versus
transfer is needed to clarify which patients will benefit most
from which procedure.
Indications for Distal Hamstring Lengthening
With Simultaneous Rectus Femoris Transfer
On review of the literature, our current criteria for distal
hamstring lengthening with simultaneous rectus femoris
transfer are the following:
1. For significant crouch gait during stance phase with
limited knee extension at midstance
2. For an increased popliteal angle and positive rectus grab
on clinical examination
3. If EMG shows activity in the rectus femoris during swing
phase
4. In the case of sufficient hip pull-off power generation at
late stance phase or no preceding iliopsoas release
5. For velocity greater than 60% of normal
6. If no significant rotational abnormalities of the hips inter-
fere with gait
Rodda and co-workers published their results of com-
bined hamstring lengthening, rectus transfer, and rotational
osteotomies as needed in 10 subjects who walked in greater
than 30 degrees of stance-phase knee flexion. Nine of the
10 children were older than 10 years at the time of surgery.
Although anterior pelvic tilt did increase, knee kinematics
improved overall at 5-year follow-up. Interestingly, 6 of
their patients had patellar avulsion fractures preoperatively.
All but one healed following soft tissue surgery without
operative fixation of the patellar fracture.520 Others have
found that even though the popliteal angle improves
after hamstring lengthening with or without rectus femoris
transfer, slow, gradual loss of correction usually occurs over
time with growth.145 Recurrence of contracture requiring
repeated surgery is not uncommon,37,168 and loss of knee
range of motion occurs in many adolescents with CP regard-
less of whether they have previously undergone hamstring
surgery.292 Progressive loss of knee extension has also been
reported in patients observed for approximately 5 years
after rectus femoris transfer, although swing-phase knee
flexion was maintained.562 Repeated hamstring lengthening
can be performed, but the procedure is more difficult
because of scarring in the tendons from the first surgery,
and extension osteotomy may be considered in some chil-
dren. Recurrence has not correlated with the age of the
patient at the time of initial lengthening.167
Management of Rotational Abnormalities
of the Femur and Tibia
Spasticity in the lower extremities over time leads to the
development of rotational abnormalities in the femur and
tibia. Typically, persistent femoral anteversion is present in
patients with spastic diplegia and in some patients with
severe spastic hemiplegia. Femoral anteversion is mani-
fested as intoeing in a school-age child. Patients and their
families complain of frequent falling and difficulty advanc-
ing one leg past the other during gait. When femoral ante-
version is combined with scissoring and tight adductors, the
in-turned foot can become quite an obstruction in swing
phase (Fig. 35-54). Rotational abnormalities can contribute
FIGURE 35-54  Excessive anteversion bilaterally in a child with
cerebral palsy. Tape outlines the patellae. He has difficulty clearing
his foot forward in swing phase because of intoeing from the
anteversion, and the condition is exacerbated by scissoring.
 CHAPTER 35  Disorders of the Brain e43

to “lever arm disease,” which is deviation in gait resulting

from malalignment of musculotendinous forces because of
skeletal anatomic abnormalities in rotation. The typical
rotational differences thought to contribute to lever arm
disease are increased femoral anteversion and external tibial
torsion, which can exacerbate crouch gait.266
Clinical Features
Physical examination shows increased internal rotation and
decreased external rotation of the hips. The patient’s patel-
lae appear internally deviated during gait, a finding that is
made more apparent by outlining the child’s patella and
watching the child walk toward the examiner. Care is
needed when assessing a child’s gait for femoral rotation
because pelvic rotation may also be present and confound
the clinical picture. This situation is particularly common
in patients with spastic hemiplegia, in whom the hemipelvis
on the involved side retracts and is externally rotated,
thereby partially masking the increased femoral anteversion
that is present.226
Over time, compensatory external rotation of the tibia
may develop and the foot progression angle turns more
external. At this time rotational abnormalities may be
missed without careful observation of gait. The child does
not appear to be intoeing, yet the patellae are still pointing
significantly inward. The foot progression angle may actually
be external if the external tibial torsion is severe enough.
Pes valgus and crouch are frequently present as well. FIGURE 35-55  Distal femoral rotational osteotomy for the
Internal tibial torsion may also be present in children treatment of excessive anteversion in an 11-year-old girl with
with CP, specifically those with spastic hemiplegia. Clini- spastic diplegia.
cally, the torsion can be quantified by examining the bimal-
leolar angle. The lateral malleolus should be 25 to 30 degrees
posterior to the medial malleolus when the patient is seated Femoral anteversion is treated by femoral osteotomy, either
and the knee is pointing directly forward. Varus deformity proximally at the intertrochanteric or subtrochanteric level
of the foot because of spasticity of the posterior or anterior or distally at the supracondylar level (Fig. 35-55).
tibialis muscles can produce an internal foot–thigh angle, so Those who advocate proximal osteotomy believe that
the bimalleolar angle is more specific for internal tibial rotation of the knee extensor mechanism with the distal
torsion. osteotomy is undesirable, although comparative studies
In some patients, more precise information about the have not been conducted. Computer simulation of intertro-
amount and levels of rotation can be obtained through gait chanteric, subtrochanteric, and supracondylar osteotomies
analysis331 by identifying the dynamic component of rota- has shown minimal effect on the length of the hamstring
tional abnormalities during walking.14 The foot progression and adductor muscles.567 If the osteotomy is performed
angle can be quantified accurately. Transverse-plane rotation proximally, the patient is usually positioned prone on the
of the pelvis, femur, tibia, and foot can be documented and operating table. Rotation to allow twice as much external
the appropriate level of osteotomy planned. Although com- rotation of the hip as internal rotation is the goal—for
puterized gait analysis is more accurate than observation in example, 30 degrees of internal rotation and 60 degrees of
complex cases, it should be noted that patients with severe external rotation.510 Mathematic models have been devised
crouch gait may have measurement errors in the estimation to quantify the amount of rotation needed intraopera-
of transverse-plane rotation even on sophisticated gait anal- tively495 but have not been widely used. Fixation with a
ysis studies.498 blade plate, a standard fixation plate and screws, or a locking
plate is performed,539,614,659 and postoperative immobiliza-
Surgical Technique tion is used only when the surgeon thinks that loss of fixa-
The medial hamstrings, adductors, and gluteus medius and tion may result because of osteopenia.
minimus can all produce dynamic internal rotation of the Distal osteotomy is performed at the supracondylar level
hips in children with CP.634 Lengthening of the medial ham- through a lateral approach with the patient supine and the
strings and adductors may in some patients lead to less legs draped free.270 The benefits of performing the osteot-
dynamic internal rotation of the hip, but the amount of omy distally are ease of the procedure and the ability to use
correction is usually slight and not very predictable. a tourniquet. The femur is exposed by elevating the vastus
lateralis anteriorly off the intramuscular septum. K-wires
Derotational Osteotomy are used to quantify the amount of rotation intraopera-
Correction of rotational malalignment of the lower extrem- tively.319 Hoffer and colleagues used Steinmann pins to
ity is best achieved through derotational osteotomies.314,660 quantify the rotation and then used the pins for fixation by
e44 SECTION VI  Neuromuscular Disorders

incorporating them into the cast.270 They did encounter pin

tract infections, so those who perform distal osteotomy now
generally use stable internal fixation with a plate and
screws.118 Hip rotation can be assessed in flexion after pro-
visional fixation so that symmetry in internal and external
rotation can be achieved. Immobilization with long-leg casts
in knee extension allows standing and early weight bearing.486
Finally, fixation of femoral rotational osteotomies can be
achieved with flexible intramedullary nails. This technique
may result in less postoperative weakness because of lack
of dissection in the zone of the osteotomy.647 Stable internal
fixation is emphasized when performing rotational osteoto-
mies on children with CP. Stable fixation, whether of the
proximal or distal end of the femur, can allow early weight
bearing and more timely resumption of ambulation.563
Postoperative gait laboratory studies have shown
improvement in hip rotation after femoral osteotomy for
intoeing in patients with CP. These changes are appreciated
by the parents, who voice high satisfaction with the
procedure.422
Recurrence or persistence of some degree of internal
rotation occurs in up to a third of patients with CP who
undergo femoral rotational osteotomy.163 Patients who are
younger than 10 years at the time of surgery are at higher
risk for recurrence.312 Gait studies have shown that the
mean change in dynamic and static hip rotation after either FIGURE 35-56  Bilateral rotational osteotomies of the femora and
proximal or distal femoral osteotomy is approximately 40% tibiae for the treatment of femoral anteversion and external tibial
less than what was reported at surgery.306 Changes in pelvic torsion.
rotation can be unpredictable and may compromise accu-
rate correction of the intoeing.26,305 For example, patients
with spastic hemiplegia or asymmetric diplegia typically combination with increased hip adduction and internal rota-
walk with external pelvic rotation and internal hip rotation tion, knee flexion secondary to hamstring spasticity, and
on the more neurologically affected side. Pelvic rotation equinus, calcaneus, or valgus deformities of the feet. Hence,
often becomes more neutral after femoral osteotomy.457,560 surgery to improve hip flexion contractures is part of the
If not planned for, the net result of femoral osteotomy with SEMLS approach in conjunction with other soft tissue or
spontaneous correction of pelvic rotation would be persis- bony procedures in patients with CP.523
tent intoeing.
In patients with tibial rotational deformities, surgical Diagnosis
correction should be performed at the distal level. Proximal The flexion contracture is caused by increased tone in the
osteotomies are associated with a higher risk for neurovas- hip flexors, primarily the iliopsoas, and relative weakness of
cular injury.561 Satisfactory results have been published for the hip extensors, such as the gluteal muscles. The contrac-
tibial osteotomy without concomitant fibular osteotomy,542 ture is identified during physical examination by performing
but most surgeons continue to cut the fibula in cases in the Thomas and Staheli maneuvers.48 In the Thomas test,
which larger amounts of rotation are desired. Internal fixa- the patient is positioned supine on the examining table. The
tion with a plate and screws or crossed K-wire fixation can opposite hip is fully flexed to flatten the lordosis of the
be performed with a low complication rate (Fig. 35-56).174 lumbar spine and lock the pelvis against moving. The angle
Alternatively, osteoclasis of the distal end of the tibia between the table and the hip in question is then measured
through percutaneous drill holes283 and intramedullary nail because the hip will rise up in flexion off the table in the
fixation in skeletally mature teens199 has been used. Gait presence of a contracture (Fig. 35-57). The Staheli test is
studies have shown that realignment of the tibia tends to performed by placing the upper part of the body of the
normalize the forces working at the ankle and foot.618 patient prone on the table with the hips dangling off the
edge of the table. The angle formed by the horizontal
and the thigh, at the point at which further hip extension
Management of Hip Involvement causes the pelvis to move, is the hip flexion contracture
in Cerebral Palsy (Fig. 35-58).611
Hip Flexion Contracture During gait, a hip flexion contracture is apparent either
as increased flexion of the hip during the middle of stance
Clinical Features phase (when the hip should be extended) or as increased
Hip flexion contractures are found most commonly in anterior pelvic tilt. The anterior pelvic tilt produces either
patients with spastic diplegia and spastic quadriplegia and forward lean of the upper part of the body during gait or
are one component of the patient’s overall crouched-gait increased lumbar lordosis as the spine extends above the
pattern. Hip flexion contractures are nearly always seen in flexed pelvis.253

On radiographs, the sacrofemoral angle can be used to
objectively quantify the hip flexion contracture. A standing
lateral radiograph that includes the proximal femoral shaft
and the lumbar spine is taken. A line is drawn along the
superior surface of the sacrum and another along the femoral
shaft. The intersection of these lines is the sacrofemoral
angle, which should normally be between 45 and 65 degrees.
In the presence of a hip flexion contracture, the sacrofemo-
ral angle decreases (Fig. 35-59).67
Hip flexor surgery in a walking child is done to improve
the hip flexion contracture, but more often than not the
goal of the surgery is to prevent increasing hip flexion and
anterior pelvic tilt when hamstring lengthening is per-
formed. As noted earlier in the discussion on knee surgery,
not only are the hamstrings knee flexors, but they are also
hip extensors. The hamstrings lose strength after lengthen-
ing, so any preexisting hip flexion contracture will be exac-
erbated after hamstring surgery.161 Therefore, hip flexor
lengthening may be part of the overall surgical correction of
FIGURE 35-57  The Thomas test reveals a 30-degree flexion
contracture of the right hip. The opposite hip is fully flexed to
flatten the lumbar lordosis.
30°
20°
A B
FIGURE 35-58  The Staheli test, used to determine hip flexion deformity with the patient prone. A, The pelvis is stabilized, the patient’s
thigh is raised toward the ceiling, and the tested hip is extended. Normal extension is 30 degrees. B, The degree by which the hip fails to
reach neutral position is the degree of deformity.
CHAPTER 35  Disorders of the Brain e45
crouch gait. A study by Truong650 found that surgical man-
agement of crouch gait led to greater improvement (in gait
analysis) in GMFCS 3 and 4 children with maximum
stance-phase hip extension no greater than 8 degrees of
flexion, anterior pelvic tilt greater than 24 degrees, and
excessive range of sagittal-plane pelvic motion when psoas
lengthening was performed.
Surgical Technique
The recommended procedure to correct increased hip
flexion is a psoas tenotomy performed over the pelvic brim.
The surgical approach is anterior, through an oblique inci-
sion just distal to the anterior superior iliac spine. The psoas
is located between the sartorius and the femoral sheath.
The femoral nerve nearly overlies the psoas tendon. The
tendon of the psoas is identified deep within the iliacus
muscle, which is not lengthened. The tendon is then tran-
sected and slid within the iliacus, thereby increasing the
overall length of the iliopsoas.375,635 This is similar to the
technique described by Salter as part of his innominate
osteotomy.549 Gait analysis studies have shown improve-
ment in hip extension during stance and in hip moments
and power and no loss of strength after lengthening either
at the pelvic brim or over it.114,439,635
Release of the iliopsoas tendon off the lesser trochanter
of the femur should not be done in ambulatory patients
because it results in loss of hip power and inability to forc-
ibly flex the hip against gravity. Climbing stairs becomes
extremely difficult, and gait deteriorates.67 The gait of chil-
dren who have undergone iliopsoas release is characterized
by increased pelvic motion and a decreased arc of hip flexion
and extension as the trunk tries to substitute for the weak
hip flexors in pulling the leg forward off the ground. Others
circumduct to advance the leg.
Bleck advised against simply releasing the iliopsoas as
well and suggested attaching the distal iliopsoas tendon
anteriorly into the hip capsule. This would allow addi-
tional length, yet hip flexion would be preserved.67 Because
psoas tenotomy over the pelvic brim is technically easier,
e46 SECTION VI  Neuromuscular Disorders
50°
20°
Normal Fixed flexion
FIGURE 35-59  The sacrofemoral angle. With increasing hip flexion
contracture the pelvis tips forward and the sacrum becomes more
vertical. The angle formed between a line drawn along the
superior aspect of the sacrum and the femoral shaft decreases
with flexion of the hip.
FIGURE 35-60  Seven-year-old boy with cerebral palsy and
scissoring of the hips.
transferring the tendon to the capsule is rarely performed
at present.
Proximal rectus femoris release has been described for
correction of hip flexion contracture in patients with CP.
Gait studies have failed to show efficacy, however.390
Adduction Contracture
Clinical Features
Spasticity in the adductor muscles in CP results in a narrow
base of gait and scissoring. The patient has difficulty advanc-
ing one limb in front of the other as the swing limb contacts
the ground in front of the other leg. Young children may be
unable to progress in their ability to ambulate because of
the scissoring (Fig. 35-60). Over time, the untreated adduc-
tion contractures, when combined with a hip flexion con-
tracture, lead to progressive hip subluxation and possible
dislocation. Surgery for the unstable hip in patients with CP
is discussed in the later section “Soft Tissue Release for
Subluxation or a Hip at Risk.”
The muscles leading to the adduction contracture are the
adductor longus, adductor brevis, adductor magnus, gracilis,
and occasionally the pectineus.
Diagnosis
Clinical examination reveals an inability to abduct the hips
in flexion and extension. The tendon of the adductor longus
is palpable and visibly tight in the groin. The child walks
with knees knocking, and one foot scissors over the other
in stance phase. The feet may appear locked together as the
child has difficulty initiating swing phase. EMG has shown
abnormal swing-phase electrical activity in the adductor
muscles in patients with scissoring.242
A word of caution is needed here. Increased femoral
anteversion when combined with crouch at the knee can
produce the appearance of scissoring.163 This clinical sce-
nario has been termed pseudoadduction. Careful observa-
tion of the patellae during gait will alert the surgeon to the
internal rotation.
Surgical Treatment
Bracing has not been shown to improve adduction contrac-
tures, and although botulinum toxin injections may relieve
dynamic adduction, this treatment modality is still under
investigation.101 Surgery to improve adduction contractures
is limited to adductor release, with or without obturator
neurectomy, and posterior adductor transfer.
Adductor Release. Adductor release was initially described
by Banks and Green44 and is commonly performed in a
young child with CP who is able to stand with support but
has difficulty walking because of scissoring (see Plate 35-7)
and as a component of multiple soft tissue single-stage
procedures in children with CP who are ambulatory. A short
transverse incision is made in the groin crease. The adductor
longus tendon is detached from its origin on the superior
pubic ramus, often along with at least part of the origins of
the adductor brevis and gracilis. The adductor magnus is not
released. The adductor brevis is sandwiched between the
anterior and posterior branches of the obturator nerve,
which innervate the adductor musculature. These branches
should be identified to avoid injury to the nerves. The
patient is then placed in either long-leg casts held in abduc-
tion (Petrie casts) or a removable abduction bar. A spica cast
is unnecessary unless other procedures are performed
concomitantly.
The advantage of adductor release is that it is a simple
and quick procedure. It results in increased abduction and
therefore improves scissoring.674 It has been linked with the
development of postoperative abduction contractures and a
wide-based gait, particularly when combined with an ante-
rior branch obturator neurectomy that denervates the
adductor brevis.376,553 For this reason, anterior branch obtu-
rator neurectomy should not be performed. The adduction
contracture may recur with growth, and further surgery is
necessary in 10% to 37% of children who undergo adductor
release.528,553
Posterior Adductor Transfer. The rate of recurrent contrac-
ture led Perry in the early 1960s to devise a procedure in
which the adductor longus, adductor brevis, and gracilis
tendons are transferred from the pubic ramus to the ischium
 CHAPTER 35  Disorders of the Brain e47

Anteroposterior view Lateral view

Ischial tuberosity

Adductor brevis Incision lines

muscle
Adductor longus
muscle
Gracilis muscle

A B

Ischial tuberosity

Adductor brevis
muscle divided

Adductor longus and

gracilis muscles FIGURE 35-61  Posterior transfer of the
transferred
hip adductors to the ischium. A and B,
Anteroposterior and lateral views showing
the line of division of the gracilis and
adductor longus muscles at their origin and
the line of myotomy of the adductor brevis.
C and D, The adductor longus and gracilis
C D muscles are transferred to the ischium, and
the adductor brevis is divided.

(Fig. 35-61). The new origin of the muscle converts the
adductors to hip extensors, thereby lowering the risk for
recurrent contractures and further stabilizing the hips. The
surgery was designed for patients with poliomyelitis, but it
soon began to be used in the CP population. Many studies
of adductor transfer then followed and found improved
abduction, extension, hip stability, scissoring, and standing
balance, with better results achieved in ambulatory
patients.30,127,509,528
Pelvic obliquity and unilateral hip subluxation have been
reported in patients 10 years after posterior transfer of the
adductor tendons, presumably because of unilateral loss of
fixation of the tendons to the ischium.570 Loder and col-
leagues351a found that only 19 of 33 transfers to the ischium
remained attached and that asymmetry of the hip and pelvis
occurred if only one side of the tendon remained attached.
To avoid this, Beals sutured the adductor longus and brevis
into a lengthened gracilis, which remains attached to its
origin, thereby increasing the integrity of the transfers and
improving abduction.56 Although adductor transfer has been
purported to maintain abduction better than release does,
adductor tenotomy is simpler.
We currently do not perform adductor transfer at our
institution for the treatment of adduction contractures in
e48 SECTION VI  Neuromuscular Disorders
CP. We continue to perform adductor tenotomy but no
longer recommend obturator neurectomy because of prob-
lems with abduction contractures. We mobilize patients
earlier than previously, and we use removable abduction bars
more frequently now to decrease postoperative stiffness.
Hip Subluxation or Dislocation
Etiology and Epidemiology
Before an extensive discussion about surgical reconstruction
of a subluxated or dislocated hip in a patient with CP, it is
important to understand the epidemiology and etiology of
hip instability in this condition.
Hip dysplasia or instability is a common problem in
patients with CP and occurred in approximately 21% of
1450 patients at the Hospital for Special Surgery.510 Other
series report a prevalence of subluxation or dislocation
ranging from 3% to 47%.119,275,356,409,602 The incidence of hip
dysplasia varies with the severity of neurologic involve-
ment.40,275 Hip dysplasia and dislocation may rarely develop
in patients with spastic hemiplegia.541 Patients with spastic
diplegia are at increased risk. Patients with spastic quadri-
plegia who have total body involvement have the highest
rate of hip instability, with hip subluxation or dislocation
developing in almost 50%.212 The incidence of hip sublux-
ation and dislocation is also linked to the ability of the
patient to walk. Nonambulatory patients are at much higher
risk than those who can walk and account for 89% of those
with hip instability and CP. Soo and associates correlated
the incidence of hip dysplasia with the GMFCS level. They
found that level 1 children (community ambulators with
minimal disability) had a 0% incidence of hip dysplasia;
level 2, a 15% incidence; level 3, a 41% incidence; level 4,
a 69% incidence; and level 5 (totally involved wheelchair-
bound children without head or trunk control), a 90%
incidence of dysplasia.602 The relationship between the
prevalence of hip dysplasia and more severe GMFCS level
has been verified in other studies as well.252 The mean age
at which patients with CP are initially seen with subluxation
or dislocation is 7 years,554 although radiographic changes
consistent with subluxation can be found as early as 18
months of age in some patients.572 Hip subluxation develops
in 60% of children with CP who are unable to walk by 5
years of age.224
Hip subluxation develops in response to muscle imbal-
ance. Spasticity and contracture of the adductors and flexors
of the hip overpower the weaker and noncontracted hip
extensors and abductors. Subluxation develops gradually,
with increasing lateralization and proximal migration of the
femoral head with respect to the acetabulum. This is com-
pletely different from developmental dislocation of the hip,
in which soft tissue laxity leads to instability of the hip (Fig.
35-62). The hip in CP is not grossly unstable on clinical
examination; it is an extremely rare case (usually a hypo-
tonic child) in which an Ortolani maneuver is positive with
reduction of the hip. Rather than laxity, the hip is pried
from the acetabulum over time by spastic muscles. It has
been found through computer modeling that the forces
exerted across a spastic hip in CP are up to six times greater
than normal.399
Bony deformity, then, occurs in response to the spastic-
ity. The normal remodeling of the femoral anteversion seen
in a neurologically normal young child does not occur in
patients with CP, and anteversion persists into adulthood.
The increased anteversion has been shown to correlate
strongly with the development of hip dysplasia, particularly
in nonwalking patients.337 The neck–shaft angle becomes
increased as coxa valga develops. The anteversion worsens
the radiographic appearance of the valgus neck. The lesser
trochanter becomes elongated because of pull from the
iliopsoas. Acetabular changes consisting of an increased
acetabular angle and erosion of the lateral lip of the acetabu-
lum by the subluxating femoral head occur as the hip
subluxates. Finally, the shape of the femoral head changes,
with superolateral and then superomedial notching as
a result of pressure from the capsule, the rim of the
acetabulum, the abductors, and the ligamentum teres
(Fig. 35-63).65,362,554
Because bony deformity develops in response to muscu-
lar spasticity, bone surgery in the absence of soft tissue
release is ineffective in correcting subluxation or dislocation
secondary to CP. Likewise, by the time that bone changes
are seen, soft tissue surgery alone will fail.
Diagnosis
Hip subluxation or dislocation can be suspected from the
results of physical examination. Loss of range of motion is
the first clue. Abduction is limited, usually to less than 30
degrees; a hip flexion contracture is present; and increased
internal and decreased external rotation of the hip are seen.
When dislocation is present and unilateral, a positive Gale-
azzi sign will be obvious: the thigh on the dislocated side
appears shorter than the contralateral femur when both hips
are flexed to 90 degrees and the knees are fully flexed
bilaterally.
The diagnosis is then confirmed radiographically (Fig.
35-64). The first signs of hip instability are a subtle break
in the Shenton line and mild uncovering of the most
lateral aspect of the femoral head by a shallow acetabulum.
The amount of femoral head protruding past the lateral
border of the acetabulum can be quantified by the Reimers
migration index (MI), or the percentage of the transverse
diameter of the femoral head that lies lateral to the Perkins
line, which is drawn at the edge of the acetabulum.507 The
acetabular index will be elevated because of acetabular dys-
plasia. The neck–shaft angle of the proximal end of the
femur is increased, indicative of coxa valga and increased
femoral anteversion (Fig. 35-65).54 The amount of coxa
valga and increased femoral anteversion correlates with
increasing GMFCS level (i.e., with the severity of CP
involvement).519
With more significant subluxation, the lateral edge of the
acetabulum becomes worn or eroded such that the acetabu-
lar index becomes very high and the capacity of the acetabu-
lum appears to be reduced. The femoral head–to–teardrop
distance increases as the hip begins to dislocate.
Robin and Graham proposed a classification system for
hip subluxation in children with CP between the ages of 2
and 7 years. A grade I hip has a Reimers MI of less than
10%, grade II has an MI between 10% and 15%, grade III
has an MI between 15% and 30%, grade IV has an MI
between 30% and 100%, and grade V is a dislocated hip in
which the MI is greater than 100%.518 Murnaghan and
others tested the reliability of this classification of hip
 CHAPTER 35  Disorders of the Brain e49

Gluteus medius Center of movement

muscle

Iliopsoas muscle

Adductor brevis muscle

Adductor longus
muscle
Adductor magnus
muscle
Gracilis muscle

A
Center of movement

B
FIGURE 35-62  Mechanism of superior and posterior displacement of the femoral head out of the acetabulum. A, A normal hip. B, In
cerebral palsy the hip adductor and iliopsoas muscles are spastic and shortened, and the gluteus maximus and medius muscles are weak.
The center of movement of the hip is translated from the center of the femoral head distally to the level of the lesser trochanter. The hip
joint capsule is elongated superoposteriorly, with gradual dislocation of the hip. (Redrawn from Sharrard WJW: Paediatric orthopaedics and
fractures, ed 2, Oxford, 1979, Blackwell.)

morphology in children with CP and proposed that it be
used in natural history studies.418
Treatment
The goals of treatment include a painless hip that allows
stable sitting and positioning in a nonambulatory patient and
full hip reduction in an ambulatory patient so that pain-free
ambulation can continue. For a hip that is subluxated,
surgery is performed in large part to prevent dislocation.
Therefore, it is important to know whether a hip is likely
to progress to dislocation. Miller and Bagg found that
approximately 75% of untreated hips that had Reimers MIs
of less than 30% did not progressively subluxate and those
that did progress were in individuals younger than 18 years.
All hips with MIs of greater than 60% eventually dislocated.
Subluxation persisted in the intermediate group with MIs
between 30% and 60%, and approximately 25% of hips
worsened.396 Once it is determined that a given hip is likely
to progress and therefore needs treatment, the risks and
benefits of surgery should be weighed. The first question to
be answered is whether treatment of the subluxated or
dislocated hip will make a difference in the quality of life
e50 SECTION VI  Neuromuscular Disorders
FIGURE 35-63  Flattening of the lateral aspect of the femoral head
(arrow) in a 17-year-old, Gross Motor and Functional Classification
System level 5 patient with long-standing dislocation.
of a child with CP. Great controversy exists, with several
studies yielding differing results. Pritchett studied 100
severely involved nursing home patients with an average age
of 26 years: 50 with hip dislocations that were untreated
and 50 who had undergone surgical treatment of hip dislo-
cations.494 He found that only 50% of patients who under-
went soft tissue releases as treatment of hip subluxation had
stable hips at follow-up and that 12 of 19 who had osteoto-
mies of the femur, with or without pelvic osteotomy, had
reduced hips. No difference was found in pain, ease of
perineal hygiene, or incidence of decubitus ulcers between
those who underwent surgery and those who did not.
Approximately 40% of patients in both groups had pain in
the hip, which was usually classified as minor and did not
interfere with daily activities. The incidence of scoliosis was
the same irrespective of whether hip surgery had been
performed. He concluded that aggressive surgery to reduce
dislocated hips offers no benefit to the well-being of the
patient.494
Pain Prevention. Noonan and co-workers published a study
that also supports conservative management of asymptom-
atic hips. Although hip subluxation and dislocation did cor-
relate with radiographic osteoarthritis, they did not correlate
with pain at an average age of 40 years. In this series, only
18% of 154 hips were definitely painful.433 Knapp and
Cortes gave further evidence for observation of asymptom-
atic hip dislocations. Of 38 dislocated hips in adults with
CP, 71% were not painful at an average age of 34 years.318
Bagg and associates reviewed the findings in their patients
with hip subluxation and dislocation. Most of the patients
had undergone some surgical treatment of their hips, gener-
ally either soft tissue releases or femoral osteotomy. They
found that patients with hip dislocations had significantly
more pain than did those with either nondislocated or sub-
luxated hips.40 Interestingly, almost 25% of patients with
reduced hips had mild pain, and a few even had severe pain.
It remains difficult to know precisely what the influence of
hip stability is on pain in this severely involved group of
patients.
Cooper and colleagues evaluated 38 patients not residing
in institutions for the prevalence of pain with hip disloca-
tion.120 Fifty-seven percent of dislocated hips were not
painful at an average age of 26 years. In nine hips, resection
or fusion had been performed for pain, and nine additional
hips were painful at follow-up. What makes this study
notable is the patient population: 50% of the patients were
communicative.
Finally, it is important to know whether significant pain
following surgical reconstruction is likely to develop in
patients without hip pain. If so, it would argue against
surgery in painless children. Krebs and associated studied
56 hips following soft tissue release, femoral osteotomy, and
pelvic osteotomy. They found that persistent postoperative
hip pain developed in only 1 of 27 painless hips. Of the
children who had painful hips before surgery, 62% experi-
enced resolution of their pain at follow-up. Unfortunately,
follow-up was only 4.75 years, with patient age at follow-up
ranging from 6.8 years to 23.6 years.330 Whether the inci-
dence of scoliosis is increased in patients with CP because
of the pelvic obliquity secondary to hip subluxation or
whether the population at greatest risk for scoliosis is the
same totally involved group of patients that is at risk for hip
dysplasia remains unclear. The high side of the oblique
pelvis has been correlated with the side of subluxation.348
Scoliosis has been correlated with pelvic obliquity, but the
direction of the curve does not always correlate with the
side of the hip dislocation.356 Abel and coauthors reported
that infrapelvic obliquity and the side of hip subluxation
cannot be predicted from the pattern of scoliosis. They
found that hip subluxation correlated with femoral adduc-
tion but not with suprapelvic obliquity.3 Contrary to these
studies, Black and Griffin reported that hip subluxation was
consistent with the forces related to pelvic obliquity. In
21 patients with pelvic obliquity, unilateral subluxation
occurred on the high side in 17 and on the low side in 4
patients.64 We conclude that unilateral hip subluxation
strongly tends to occur in conjunction with pelvic obliquity,
with most dislocations occurring on the high side of the
pelvis (Fig. 35-66). The influence of unilateral hip disloca-
tion on progression of scoliosis has been studied. Even
though the amount of pelvic obliquity correlated with the
presence of scoliosis, progression of scoliosis did not.578
Categories of Surgical Treatment. Surgical treatment is
divided into three categories: (1) soft tissue release for
subluxation or a hip at risk, (2) reduction and reconstruc-
tion of the subluxated or dislocated hip, and (3) salvage
surgery for long-standing painful dislocations.
Soft Tissue Release for Subluxation or a Hip at Risk. A
hip at risk is defined as a hip that has significant adduction
and flexion contractures but minimal subluxation, with an
MI of less than 30%. Patients are 5 years or younger.298
Surgical treatment is aimed at preventing dislocation of
the hip. Soft tissue release of contractures is indicated when
the abduction range is less than 30 degrees, the flexion
 CHAPTER 35  Disorders of the Brain e51

A B

C D

FIGURE 35-64  A, Anteroposterior pelvic radiograph of a 32-month-

old girl with spastic quadriplegia. B, At 5 years of age the right hip is
subluxated. Coxa valga is apparent, and the lesser trochanters appear
elongated. C, The right hip is dislocated at 7 years of age, and the
acetabulum has become very dysplastic. D, One year later the left
hip is beginning to subluxate. The pelvis is tipped anteriorly because
of flexion contractures of the hips. E, Finally, at 10 years of age, both
hips are dislocated, the acetabuli are dysplastic, and the femoral
E
heads have become eroded.

contracture is greater than 45 degrees, the MI is higher than
25% to 30%, and the child is preferably no older than
5 years.200,298
Bilateral adductor releases should be performed when-
ever bilateral contracture exists, but also in the absence of
a contralateral abduction contracture. Proximal hamstring
releases may be added to the procedure in sitting patients
who vault from their chairs as a result of their startle reflex.
The procedure consists of adductor release and iliopsoas
lengthening or release.268 The surgical technique is described
in Plate 35-7. Many studies have examined the surgical
outcome after soft tissue surgery for a hip at risk. Sharrard
e52 SECTION VI  Neuromuscular Disorders

a
C
1 2

1
2

A
FIGURE 35-65  Radiographic measurements of hip subluxation in cerebral palsy. A, The neck–shaft angle (α1, normal; α2, subluxated hip)
increases in patients with spasticity at the hip. B, The Shenton line. In a normal hip a line drawn along the inferior femoral neck matches
a line drawn along the inferior aspect of the pubic ramus. In a spastic hip the femoral neck line is superior to the pubic line. C, Reimers
migration index. In a normal hip the entire femoral head is located medial to the lateral margin of the acetabulum. In a spastic hip, lateral
migration is measured as a/b. D, Acetabular index. As a spastic hip progressively subluxates, the acetabulum becomes more shallow and
the index (θ2) increases in comparison to normal (θ1).

and others compared outcomes in a group of children with
CP who had undergone adductor tenotomy for abduction
of less than 45 degrees with outcomes in a matched control
group of patients who did not undergo surgery. At 4-year
follow-up, 13% of hips treated by contracture release had
subluxated, without any dislocations. In the control group,
28% had subluxated and 11% were dislocated.586 Wheeler
and Weinstein published their results after adductor release
in 41 hips and noted that acetabular development and sub-
luxation improved at 3.7 years of follow-up. The center–
edge (CE) angle of Weiberg increased from an average of 4
degrees preoperatively to 32 degrees postoperatively. Four-
teen of the hips remained subluxated or dislocated after the
operation.674
Hips with a preoperative MI of greater than 50% have
been reported to have poorer results than hips with milder
subluxation.594 Unilateral adductor release often led to con-
tralateral contractures. It is recommended that bilateral
release be routine and that hips that are significantly uncov-
ered preoperatively be monitored closely for dislocation.594
Cornell and colleagues reported that 83% of hips with
preoperative MIs of less than 40% treated by adductor
release remained stable. Seventy-seven percent of hips that
were uncovered with MIs greater than 40% remained sub-
luxated or eventually dislocated.121 Bowen and Kehl’s study
also found that 81% of hips remained stable at 7-year
follow-up if the preoperative MI was less than 50%.83 The
amount of preoperative subluxation present strongly influ-
ences the outcome of soft tissue hip release.397
Although short-term improvement in hip coverage—and
therefore stability—can be expected in some patients
undergoing soft tissue release for mild hip subluxation, long-
term results remain in question. In a 10-year follow-up
study, ambulatory patients had the best results, and two
thirds of the hips had not required further hip surgery.492,642
Yet other studies found that 58% to 77% of patients moni-
tored for 5 to 8 years required further surgery for hip
subluxation or dislocation after soft tissue release.566,655
Shore and coauthors published an excellent study of 330
children with CP in which the outcomes of adductor release
were compared with the patients’ preoperative GMFCS
level. They found that patients who were mildly involved

A B
FIGURE 35-66  Paralytic dislocation of the left hip with severe scoliosis. A, Anteroposterior (AP) view of the spine showing right
dorsolumbar scoliosis (long C curve). Note the left hip subluxation. B, AP view of the left hip. Note the progressive subluxation.
(GMFCS level 2) experienced successful results, defined as
an MI of less than 50% and no further hip surgery at 7-year
follow-up. Nonambulatory patients did not fare well,
however. Successful outcomes from adductor release were
seen in only 27% of the GMFCS level 4 and 14% of the
GMFCS level 5 patients. Unfortunately, 73% of the patients
were nonambulatory at the time of surgery, so one can
conclude that although adductor release works well in the
ambulatory population, most children with hip instability
are nonambulatory and rarely achieve long-term success
with soft tissue release alone.590
In summary, the best results following adductor release
for hip instability have occurred in patients who were 5
years or younger, were ambulatory, had mild subluxation,
and had no pelvic obliquity.197,298,408,597 Very early release, at
2 to 3 years of age, before the hip is dysplastic has been
advocated but is not generally accepted.446 Many patients
will require repeated surgery for recurrent subluxation over
time, especially if they are nonambulatory.
Aside from failure to prevent progressive subluxation
and dislocation, complications resulting from adductor
surgery and iliopsoas lengthening are few. Infection and
hematomas may occur as a result of the dead space created
by the surgery and the location of the groin incisions.528
These complications are seen more frequently after adduc-
tor transfers than after releases.
CHAPTER 35  Disorders of the Brain e53
Some reports have noted extension–abduction contrac-
tures resulting from adductor–flexor releases. The children
had usually previously undergone tenotomy of the iliopsoas
and obturator neurectomy at the time of adductor release.
Spasticity in the gluteal muscles and hamstrings, which are
not released, drives the development of this new contrac-
ture.82 Extension is particularly disabling in patients who are
nonambulatory because they are unable to sit comfortably
in their wheelchairs as a result of the loss of hip flexion.
Lumbar lordosis is lost, and thoracic kyphosis results. Surgi-
cal release of the gluteal muscles from their insertion on the
greater trochanter combined with proximal hamstring
release can be helpful. The proximal hamstrings are
approached through an adductor incision transversely just
distal to the groin crease (Plate 35-8). The tendons are iden-
tified at their origin on the ischium. The sciatic nerve is
located just lateral to the hamstring origin, so it must be pro-
tected.192 Some use a nerve stimulator to be sure that what
they perceive as the hamstring tendons is not the sciatic
nerve.397 In severe cases, sciatic nerve palsy has resulted
from stretch after this release, and femoral shortening may
be necessary.637 This deformity can be prevented by per-
forming a proximal hamstring release at the time of adductor
and hip flexor release in nonambulatory patients with a
tendency to thrust their hips forward in their wheelchairs
and when significant hamstring tightness is present.192,597
e54 SECTION VI  Neuromuscular Disorders
A B
FIGURE 35-67  A, Right hip subluxation in a 6-year-old
nonambulatory girl with cerebral palsy. B, Six months
after bilateral adductor release and right varus derotation
osteotomy, the hip is covered and the Shenton line is
restored. C, Four years after surgery, the hip remains
reduced and asymptomatic. The implant was removed
because of irritation secondary to prominence of the screw.
Another complication seen after bilateral adductor
release is a unilateral abduction contracture caused by a
preexisting windblown hip deformity.4 On preoperative
clinical examination the surgeon should look carefully for
abduction contracture of the contralateral hip when con-
templating bilateral release for unilateral subluxation. The
“pseudo–Galeazzi sign” has been described as asymmetry in
the apparent lengths of the femora when the hips and knees
are flexed in a supine patient in the presence of reduced
hips. This sign can occur in the setting of a mild windblown
hip deformity in which one hip is adducted and the other
is abducted. Bilateral adductor release should not be per-
formed in these cases because the abduction may worsen
postoperatively and interfere with positioning.348,440
Reduction and Reconstruction of the Subluxated or Dis-
located Hip
Femoral Osteotomy. In the setting of more significant
hip subluxation, isolated soft tissue release is inadequate to
maintain a stable reduced hip. The most frequently per-
formed procedure in this setting is femoral varus derotation
osteotomy (VDRO). An osteotomy is performed at the
intertrochanteric level, usually accompanied by a closing
C
wedge taken medially or femoral shortening (or both), and
the femur is fixed in an increased amount of varus with
internal fixation (Fig. 35-67). Implants vary, but the two
most frequently used are a hip screw and side plate and a
90-degree blade plate.57,255 The desired neck–shaft angle
after varus osteotomy for hip instability is 90 to 100 degrees
of varus.191 Release of soft tissue contractures must also be
done to balance the forces across the hip. Adductor tenot-
omy and iliopsoas lengthening are performed. Usually, the
patient is then immobilized in a spica cast.
Noonan and colleagues studied 79 patients at an average
5 years’ postoperative follow-up after VDRO and found
that 72% remained stable. They found that hips that were
initially subluxated had better outcomes than dislocated
hips did and that younger patients were more likely to
achieve good results.435
Brunner and Baumann also found deterioration (mean
15-year follow-up) in coverage of the femoral head when a
varus femoral osteotomy was performed for the treatment
of hip dislocation.90 The CE angle in these hips had returned
nearly to preoperative values, and most patients needed
further pelvic surgery to reestablish coverage. Yet the results

in subluxated hips were uniformly good, with improvement
in the CE angle from an average of 8 degrees preoperatively
to 23 degrees at follow-up. Just as with soft tissue release,
superior coverage is found when VDRO is performed in
hips with better coverage to begin with.41,91 Herndon and
associates reported on 48 varus osteotomies performed for
hip subluxation or dislocation in children with CP. What is
novel about this study is that a medial open reduction was
also performed on 20 hips. The postoperative result closely
correlated with the amount of preoperative coverage, the
preoperative CE angle, and the acetabular index. Asymp-
tomatic vascular changes within the femoral head subse-
quently developed in 5 of the 20 hips treated by open
reduction. The authors concluded that the procedure is
useful for subluxated hips but that if instability or poor
coverage is present at the end of surgery, pelvic osteotomy
should be added.263 Other studies comparing outcomes in
hips treated by VDRO and hips treated by VDRO and
pelvic osteotomy found superior results with the addition
of pelvic osteotomy, and the authors recommended against
performing VDRO alone.37,600
Remodeling does occur after femoral VDRO. Remodel-
ing of the proximal end of the femur back into valgus occurs
with growth, which is most likely in children who are oper-
ated on before 4 years of age.90,271,378 No significant remodel-
ing can be expected in patients operated on at 8 years or
older.271 Schmale and colleagues monitored 38 young chil-
dren who underwent VDRO at an average age of 4 years
without pelvic osteotomy for hip subluxation and found that
74% required further surgery at a 5-year mean follow-up.566
Complications from femoral VDRO other than recur-
rent dysplasia are loss of fixation and fracture. Taking care
to perform the osteotomy an adequate distance away from
the insertion site for the blade can reduce the incidence of
proximal femoral fractures.57 We use a spica cast after
VDRO in patients with hip instability associated with CP
because we believe that weakness and stiffness will improve
in time after physical therapy and are preferable to the
potential loss of fixation in osteopenic bone. Delayed union
and nonunion are rare but do occur.600 Heterotopic ossifica-
tion can result from any hip reconstructive procedure,
including varus osteotomy. Patients with spastic quadriple-
gia who undergo capsulotomy and experience a postopera-
tive infection are at highest risk.282 Avascular necrosis (AVN)
has been documented in some studies following VDRO
(and following VDRO with concomitant pelvic osteotomy)
and occurs to varying degrees in 0% to 37% of patients.19,311
Combined Femoral Varus and Pelvic Osteotomies. In
cases in which muscle release and femoral VDRO does not
provide adequate coverage or stability of the hip, pelvic
osteotomy should also be performed.53 This is most likely
to be necessary when the preoperative MI is greater than
50%.279 Among the various possible osteotomies are redi-
rectional osteotomies, such as the Steel and periacetabular
procedures; osteotomies that reshape the acetabulum, such
as the Pemberton and Dega osteotomies; and salvage oste-
otomies that increase the area of the acetabulum with non-
articular cartilage, such as the Chiari osteotomy and the
shelf augmentation procedure. Each of the osteotomies has
its advocates, but it is important to understand the three-
dimensional anatomy of the acetabulum and femoral head
before choosing a particular osteotomy.
CHAPTER 35  Disorders of the Brain e55
Three-dimensional CT reconstructions of dysplastic hips
in patients with CP have helped define the nature of the
instability.313 Abel and Damiano reviewed the three-
dimensional CT scans of 31 hips from a mix of ambulatory
and nonambulatory patients.5 They found that subluxation
and dislocation occur in a posterior direction in those with
CP. In patients who were able to walk, acetabular volume
was better, but significantly more anteversion was noted in
the proximal end of the femur. Global acetabular deficiency
with lack of anterior and posterior wall development and
decreased acetabular volume relative to the size of the
femoral heads was seen in nonambulatory patients (Fig.
35-68). Based on their study results, the authors recom-
mended against performing redirectional osteotomies that
increase anterior coverage, such as the Salter osteotomy,
because of the possibility of decreasing the already deficient
posterior coverage.7 Posterior insufficiency was also found
by CT in a study performed by Buckley and colleagues.95
However, in another study of three-dimensional CT scans,
the authors did not think that the acetabulum was globally
deficient but that a rut driven by the femoral head through
the acetabular roof occurred as the hip subluxated and that
anterior and posterior wall coverage was adequate.92 From
these different studies it appears that those with CP may
have varying patterns of acetabular deficiency, with many
but not all patients exhibiting posterior insufficiency.
The two pelvic procedures with the longest historical use
in patients with CP are the Chiari osteotomy and the shelf
acetabular augmentation procedure.
Chiari Osteotomy. The Chiari osteotomy is per-
formed by making a horizontal osteotomy from the sciatic
notch to a point just at the superolateral margin of the
acetabulum. The osteotomy is displaced medially so that
the hip capsule lies over the lateral bony surface of the
ilium, which over time undergoes metaplasia to form fibro-
cartilage (Fig. 35-69).112 A more detailed description of the
surgical procedure can be found in Chapter 16.
Although good results have been reported after Chiari
osteotomy, it should be combined with femoral osteotomy
in patients with severe subluxation.155,173,452,489 The series
with the greatest success rate was that of Atar and col-
leagues, in which 14 of 15 hips remained stable at 3-year
follow-up after a Chiari osteotomy combined with a varus
osteotomy and muscle release.36
Shelf Acetabular Augmentation (Plate 35-9). A
second pelvic procedure that has been widely used is the
shelf acetabular augmentation as described by Staheli in
1981. A notch is made in the outer wall of the ilium just
at the margin of the acetabulum, and cancellous and corti-
cocancellous strips of iliac crest are wedged into this notch
above the hip capsule to increase the area of load bearing
and therefore improve the stability of the hip (see Chapter
16).612 The graft can be placed wherever acetabular defi-
ciency is present, thereby improving the posterior and
lateral deficiencies most common in CP. Because the ace-
tabulum is not redirected, coverage is not increased in one
direction at the expense of the opposite direction. In fact,
coverage that is increased beyond normal can be achieved
and, according to Staheli, should be.613 The procedure is
indicated for a hip in which spherical congruency cannot be
achieved. In hips that remain congruent, a redirectional
osteotomy is preferable to maintain coverage by articular
e56 SECTION VI  Neuromuscular Disorders

B C
FIGURE 35-68  A, Anteroposterior radiograph of the pelvis of a 10-year-old child with cerebral palsy. B, A three-dimensional computed
tomography scan of the right hip reveals global deficiency of the acetabulum with anterior, superior, and lateral lack of coverage. C, The
hip was reconstructed by muscle release, femoral varus derotation osteotomy with blade plate fixation, and a Dega pelvic osteotomy.

A B
FIGURE 35-69  Paralytic dislocation of the right hip in severe spastic cerebral palsy. A, Preoperative radiograph. B, Postoperative
radiograph after open reduction with femoral shortening, capsular plication, and Chiari pelvic osteotomy and shelf acetabuloplasty.
 CHAPTER 35  Disorders of the Brain e57

cartilage. The shelf procedure is also helpful in hips with
global acetabular deficiency and a small articular surface.
Studies of the outcomes of shelf procedures in those
with CP have shown good results, with hip stability obtained
in 83% to 95% of patients.363,600,693 The procedure can be
useful in some older children with a painful subluxated hip
and mild femoral head irregularities.361 Previous problems
with resorption of the lateral graft are lessened with decor-
tication of the lateral surface of the ilium and radiographic
localization of the inferior lip of the acetabulum, where the
shelf needs to be placed. If it is placed too high, the acetabu-
lum will appear to have a step-off and the graft will be
resorbed. Because the shelf is built at the very margin of
the acetabulum, it is possible to disturb further lateral
growth of the acetabulum, so the shelf procedure should
not be performed in very young patients.
Dega Osteotomy. A third pelvic osteotomy that is of
particular benefit in hip dysplasia secondary to CP is the
Dega osteotomy (Fig. 35-70; Plate 35-10). This osteotomy,
as well as the San Diego variation described by Mubarak,
extends through the outer table of the ilium from the ante-
rior inferior iliac spine to the sciatic notch. A bicortical
osteotomy is performed only at the anterior inferior iliac
spine and, with a Kerrison rongeur, at the sciatic notch. The
inner table of the ilium is not cut. The lateral osteotomy
made through the outer table is extended with curved
osteotomes to the triradiate cartilage under fluoroscopic
guidance. The osteotomy is then pried down laterally and
posteriorly with osteotomes and hinged on the triradiate
cartilage, with the inner table of the ilium being left intact.
Wedges of bone graft prop the osteotomy open, and the
direction of desired coverage is addressed by where one
places the bone graft. The sponginess of the triradiate car-
tilage closes the osteotomy around the bony wedges, so
fixation with pins is not usually necessary. A prerequisite
for the Dega osteotomy is open triradiate cartilage.416
Mubarak and colleagues reported their experience with
the Dega osteotomy combined with adductor, iliopsoas, and
proximal hamstring release and a shortening femoral VDRO.
Ninety-five percent of 104 hips remained stable at 7 years’
follow-up, although AVN occurred in 8% of the hips. The
authors commented that the Dega osteotomy allowed
excellent correction of the superior and lateral deficiency
seen preoperatively.416 They advocated performing the oste-
otomy in those with open triradiate cartilage, an acetabular
index greater than 25 degrees, and an MI greater than 40%.
For severe subluxation in which the hip is greater than 70%
uncovered, they also advised open reduction.392 With open
reduction, an increased risk for AVN is present. In a series
in which open reduction via trochanteric flip osteotomy,
VDRO, and a Dega-like osteotomy was performed through
the lateral approach, no cases of AVN were found at 17-year
follow-up, which they attributed to careful preservation of
the blood supply and gentle reduction of the hip.558
Miller and colleagues398a used a similar pelvic osteotomy,
again combined with a shortening femoral VDRO and

A B

C D
FIGURE 35-70  A, Eight-year-old, Gross Motor and Functional Classification System level 5 boy with right hip subluxation. B, Four years
after right varus osteotomy and Dega osteotomy, the left hip is now subluxated. C, Intraoperative fluoroscopic shot of left adductor
release, femoral varus osteotomy, and Dega osteotomy. D, At 15 years of age both hips remain reduced.
e58 SECTION VI  Neuromuscular Disorders
A B
FIGURE 35-71  A, A radiograph of an ambulatory adolescent with severe left hip pain shows marked subluxation of the hip with severe
acetabular dysplasia. B, A postoperative radiograph after valgus osteotomy of the proximal end of the femur and periacetabular
osteotomy shows excellent coverage of the hip.
aggressive muscle release. Only 2 hips redislocated and 2
hips remained subluxated out of 70 hips at follow-up. Their
osteotomy differed from the Dega osteotomy in that it did
not extend into the sciatic notch but was directed inferiorly
to the triradiate cartilage at the posterior aspect.346 Their
indications for this combined procedure were (1) failure of
soft tissue release in a child younger than 8 years; (2) sub-
luxation, defined as an MI greater than 40% in children
older than 8 years; (3) a recent hip dislocation (within 2
years); and (4) a painful subluxated or dislocated hip
without significant femoral head deformity. They success-
fully did not use a spica cast postoperatively, but we do
continue to use a cast in this group of patients, both for
comfort and to reduce spasticity and maintain the position
of the pelvic osteotomy during healing.
The benefit of the Chiari osteotomy, shelf augmentation,
and Dega osteotomy is that they provide coverage posteri-
orly and laterally and thereby improve the MI percentage
and CE angle. Drummond and coworkers warned against
using the Salter or Pemberton osteotomy in patients with
CP because these osteotomies were designed to move cov-
erage more anteriorly and laterally without improving pos-
terior coverage.180,467 Salter himself indicated that his
innominate osteotomy was not to be used for spastic dislo-
cations.550 Root and colleagues advocated using the Salter
osteotomy in children younger than 12 years and the Chiari
osteotomy in older children.526 We do not use the Salter or
the Pemberton osteotomy in children with CP and cannot
explain these reports of satisfactory outcomes.
Bernese Osteotomy. With increasing familiarity with
the Bernese periacetabular osteotomy for adolescent hip
dysplasia, modifications of this osteotomy have been used
in patients with CP.529 Marked improvement in coverage can
be obtained because of the ability to redirect the acetabu-
lum with greater ease (Fig. 35-71). Patients who are ambu-
latory with sufficient bone stock for stable internal fixation
and who have closed triradiate cartilage are the best candi-
dates for this osteotomy. In some instances, coverage can
be greatly increased with the periacetabular osteotomy such
that femoral osteotomy may be avoided.
Complications. Patients with CP who undergo surgi-
cal hip reconstruction with osteotomies are at significant
risk for complications. The risk for complication after an
osteotomy is significantly greater in the nonambulatory
population, and in one series a worrisome 69% of patients
with a tracheostomy or gastrostomy had complications.616
Respiratory complications and postoperative anemia are the
most likely complications in the immediate postoperative
period. In every study, postoperative fractures developed in
some patients, including pathologic fractures of the supra-
condylar femur during mobilization after cast removal and
fractures in the area of the osteotomy, at times resulting in
loss of fixation. It was this risk for fracture that stimulated
Miller’s group to try reconstruction without casting. We too
have seen problems with fractures in this group of patients
and attribute the fractures not only to immobilization but
also to preexisting osteopenia. Great care in the period after
cast removal is needed, and attempts to increase passive
range of motion should be pursued with extreme caution.
Patients with hip dislocations associated with CP are also
frequently malnourished. Malnutrition increases the risk for
postoperative pulmonary complications and the develop-
ment of decubitus sores from the cast. The “felt suit”
approach to spica casting is warranted; thick, soft felt is
applied to all potential sites of breakdown and bony promi-
nences and held in place with cast padding. These casts
must be well padded because skin sores develop in 15% of
these children.360
Finally, patients who undergo surgical reconstruction of
a unilateral dysplastic hip have a debatable risk for subse-
quent instability in the contralateral hip (Fig. 35-72).507,553,594
Studies have shown that the risk for contralateral
 CHAPTER 35  Disorders of the Brain e59

A B

C D

FIGURE 35-72  A, Severe subluxation of the right hip of a

7-year-old boy with spastic quadriplegia. The left hip is well
contained. B, A unilateral varus derotation osteotomy (VDRO)
with a shelf procedure and bilateral adductor releases were
performed. C, The left hip subluxated 2.5 years after the right
hip reconstruction. D, VDRO and a Dega osteotomy were
performed. E, One year after contralateral reconstruction, both E
hips were reduced and painless.
e60 SECTION VI  Neuromuscular Disorders

subluxation is greatest if soft tissue release is performed
before 9 years of age in a nonambulatory patient.104 We have
found unilateral VDRO (with pelvic osteotomy as needed)
effective in our patient population if contralateral sublux-
ation does not exist.582 It is recommended that contralateral
bone and soft tissue surgery be performed if even mild
dysplasia is present.104,225,434 The typical child undergoing
hip reconstruction is medically frail; the risk for respiratory
compromise requiring intensive care unit transfer and rein-
tubation is not significantly different in children undergoing
bilateral femoral and pelvic osteotomy than in those under-
going bilateral femoral and unilateral pelvic osteotomy.284
Furthermore, contralateral surgery may benefit a child with
preoperative windswept deformity, a condition character-
ized by unilateral subluxation and contralateral abduction
contracture.45
Many patients who undergo femoral osteotomy experi-
ence symptoms as a result of prominence of the hardware.
Bursae form over the lateral prominence and may cause pain
while sitting. Hardware removal is frequently helpful but
does carry a small risk for fracture in the postoperative
period. Physical therapy should be discontinued for 6 weeks
after removal of internal fixation to allow bone healing.59
As discussed earlier, AVN is a recognized complication
of hip reconstruction in the CP population. Epiphyseal
changes have been seen in 10% of patients who undergo
femoral osteotomy, as well as in up to 46% of patients
who undergo concomitant pelvic osteotomies.617 Not all
hips with epiphyseal changes become painful, however
(Fig. 35-73).
Recovery time is prolonged after combined soft tissue
and bone reconstruction of the hip in children with CP. The
interval after surgery until the patient regains the preopera-
tive level of function and experiences pain relief averages 7
to 10 months, but up to 30 months may be needed in rare
patients.615 Some have found that a rehabilitation period of

A B

FIGURE 35-73  A, Preoperative radiograph of an adolescent girl with dystonia

and painful right hip subluxation. B, Postoperative radiograph after adductor
release, proximal femoral varus osteotomy, and a Steel triple pelvic osteotomy.
Note the segmental avascular necrosis of the femoral head. C, Clinical
appearance of a child after hip reconstruction. Note the presence of a right
C
shoe lift for limb length discrepancy.

8 to 14 months occurs after hip reconstruction.290 Parents
should be forewarned that surgical improvement will not be
seen for some time and that prolonged aggressive postopera-
tive care will be needed.
Salvage Surgery for Long-standing Painful Dislocations.
Surgical reduction of a dislocated hip in patients with CP
should be limited to children who do not have significant
bony changes in the femoral head. Pressure from the hip
capsule, abductor muscles, and ligamentum can result in
erosion and loss of sphericity of the femoral head. Lateral
notching can be caused by direct pressure from the gluteus
minimus tendon.58 Reduction of the hip will not lead to pain
relief but may well exacerbate the hip and groin pain.
Patients with bony changes in the femoral head are usually
older, with most being adolescents. Indications for surgery
in this group of patients include hip pain, inability to sit
in a modified wheelchair, and difficulty with perineal
hygiene because of contractures. Four surgical options are
available: proximal femoral resection, valgus osteotomy
of the proximal end of the femur, hip arthrodesis, and
total hip arthroplasty.
The decision to abort reduction of the hip can be a dif-
ficult one to make. In the presence of arthritic changes and
severe erosion of the femoral head, it is clear that the hip
cannot be reconstructed. Bleck advocated opening the
capsule before reduction in questionable cases and proceed-
ing with proximal femoral resection if the articular cartilage
appears to be degenerated.69 Preoperative MRI can be of
use in determining the status of the femoral head in
some cases.
Proximal Femoral Resection–Interposition Arthroplasty.
Proximal femoral resection was popularized for the treat-
ment of painful dislocations of the hip in nonambulatory
patients by Castle and Schneider in 1978.108 The surgical
technique is as follows (Fig. 35-74). The proximal end of
the femur is approached laterally and extraperiosteal
A B
FIGURE 35-74  A, The planned level of resection for proximal
femoral resection is below the level of the lesser trochanter
and below the level of the acetabulum. If less bone is resected,
persistent pain and contracture are more likely. B, Interposition
of soft tissue between the acetabulum and proximal end of the
femur includes closure of the capsule and suture of the iliopsoas
to it. The quadriceps is sewn over the proximal end of the femur.
CHAPTER 35  Disorders of the Brain e61
dissection carried out. The abductors are sharply detached
from the greater trochanter. An osteotomy is made across
the proximal femur at a level 3 cm distal to the lesser tro-
chanter. The iliopsoas tendon is transected. The hip capsule
is detached from the proximal femur and sewn shut after
removal of the proximal femur to cover the acetabulum.
The quadriceps muscle is then sewn over the end of the
femoral shaft. The abductors are interposed between
the acetabulum, which is covered with the capsule, and
the femur, which is covered by the quadriceps. The patient
is then placed in traction for a period of 3 weeks while the
soft tissue interposition begins to heal.
Technical caveats to be appreciated here include a more
distal level of resection than that described in the Girdle-
stone procedure.217 McCarthy and associates advocated
resection no more proximal than the level of the inferior
aspect of the ipsilateral ischial ramus, or 3 cm distal to the
lesser trochanter.383 Resection at a more proximal level can
lead to increased pain after surgery as the femoral shaft
migrates proximally and abuts the pelvis because of
spasticity.468
A second problem that can follow proximal femoral
resection is heterotopic bone formation with resultant stiff-
ness of the resected hip (Fig. 35-75).321 In children with CP
this has been seen after soft tissue release of the hip and
after spinal surgery,331,343 but it is most commonly encoun-
tered after proximal femoral resection. The proximal
femoral exposure must be extraperiosteal, and the perios-
teum and all bony fragments must be thoroughly removed
from the wound before closure to lessen the risk for this
complication. Some surgeons have used postoperative low-
dose irradiation to reduce the incidence of heterotopic ossi-
fication.676 When heterotopic bone blocks motion, it can be
resected if mature, but it may recur.
Recovery from proximal femoral resection is notoriously
slow, with some patients not experiencing relief of pain and
FIGURE 35-75  Radiograph of a patient after right proximal
femoral resection. At follow-up the patient had a warm, swollen
thigh. The radiograph shows severe heterotopic ossification.
e62 SECTION VI  Neuromuscular Disorders
increasing mobility until 1 year after surgery.50 Families
should be warned that after resection, pain and spasticity
may seem to worsen before improvement is noted. Most
patients do achieve pain relief, improved range of motion,
and increased sitting endurance after proximal femoral
resection.424,676 A few patients never become completely
pain free after proximal femoral resection and can pose
difficult management problems (Fig. 35-76). Wheelchair
modifications are always necessary after proximal femoral
resection–interposition arthroplasty because the operated
leg will be markedly shortened.
Valgus Osteotomy of the Proximal Femur. Valgus oste-
otomy of the proximal end of the femur is performed to
allow the thigh to come out into abduction, thereby facili-
tating perineal hygiene. The femoral head is repositioned
farther laterally from the acetabulum so that rubbing
C
between the pelvis and the femoral head is lessened (Fig.
35-77). In this way, pain relief may occur.
The track record for proximal femoral valgus osteotomy
is variable. Sitting in a wheelchair can still be difficult
because of the fixed abduction of the leg postoperatively.
Samilson and colleagues found that pain relief was not pre-
dictably achieved after this procedure.554 Yet a large series
of 55 proximal femoral valgus osteotomies performed for
painful dislocation of the hip found improved range of
motion and improvement in pain (if not relief) in 98%.564
McHale and coauthors reported the results in a very
small series in which femoral head resection was combined
with valgus osteotomy of the proximal end of the femur.385
The lesser trochanter was placed in the acetabulum and the
capsule was repaired. At 3-year follow-up, sitting ability and
pain had improved.385 Leet and co-workers found that the
FIGURE 35-76  A, Bilateral painful dislocations of the hip in
a 6-year-old boy with cerebral palsy. B, Heterotopic bone is
present 2 months after proximal femoral resections. C, Four
years later, sitting has been obstructed by recurrent
contractures.
 CHAPTER 35  Disorders of the Brain e63

A B
FIGURE 35-77  A, Pelvic radiograph of a patient with spastic quadriplegia and a painful right hip dislocation. B, Valgus osteotomy was
performed to improve seating and relieve pain.

combination of valgus osteotomy and proximal femoral

resection obviated the need for postoperative traction but
did not influence long-term caregiver satisfaction after
resection.344 We have no experience with this procedure.
Hip Arthrodesis. Surgical fusion of the hip has been
performed in patients with painful dislocations of the hip
as a result of CP. The desired position of fusion differs from
that in the nonneuromuscularly impaired population.510
Because the primary position of most of these patients
during daily activities is sitting in the wheelchair, a position
of 50 degrees of flexion and 10 degrees of abduction is
recommended for nonambulatory patients. Root and col-
leagues used a combined intraarticular and extraarticular
technique, nearly always together with subtrochanteric
osteotomy of the femur, to allow positioning of the leg.
They found that patients with CP had a high complication
rate after arthrodesis, particularly pseudarthrosis. Never-
theless, they advocated use of the procedure in young
patients with normal spines and normal contralateral hips.524
Another study found that hip arthrodesis was tolerated well
by ambulatory patients and those with unilateral nonrecon-
structable hip disease. The mean position of fusion in the
FIGURE 35-78  Anterior dislocation of the left femoral head in a
series was 40 degrees of flexion, 15 degrees of abduction,
17-year-old male patient with spastic quadriparesis. The right hip
and neutral rotation.162 Bleck rarely uses arthrodesis and was posteriorly dislocated and remains subluxated despite surgery.
believes that it compromises both the sitting and supine
positions and increases stress on the lumbar spine.72
Total Hip Arthroplasty. Root has been the greatest advo-
cate of total hip arthroplasty in patients with CP. The ideal surgery.524 Despite concern about early loosening of the
candidate for joint replacement is an adult with CP who is components, this has not been a problem in most patients.
able to walk, stand, or transfer. Nearly all the patients in Sixteen of 18 patients with CP who underwent total hip
whom he has performed total hip replacement had normal arthroplasty with conventional implants at an average age
or nearly normal intelligence. Patients should not have coex- of 30 years had relief of pain and improved function at an
isting pelvic obliquity or scoliosis.72 Technical considerations average of 10 years’ follow-up.99 Others have also seen
are (1) a need to position the acetabular component so improvements in pain scores following total hip arthroplasty
that it provides posterior stability in sitting patients and in ambulatory adults with CP but noted a higher loosening
(2) frequent loss of acetabular bone stock superolaterally, and dislocation rate in this patient population.569
which requires bone grafting at the time of total hip arthro-
plasty. The use of constrained implants has led to poor Anterior Dislocation of the Hip
results.321 Based on their experience with instability in the Anterior dislocation of the hip occurs much less frequently
early postoperative period after hip replacement with con- than posterolateral dislocation (Fig. 35-78). Children at
ventional nonconstrained components, Root and colleagues greatest risk for anterior dislocation have excessive adductor
recommended that a spica cast be worn for 4 weeks after and hip flexor release leading to extension and abduction
e64 SECTION VI  Neuromuscular Disorders
contractures, or the dislocation appears to be caused by
extension posturing in the child with severe neurologic
involvement.
Symptoms consist of an inability to sit in a wheelchair
because of extension contractures, and hip pain is present
in half these patients. The diagnosis is made by physical
examination. The femoral head is palpable in the anterior
aspect of the groin, and flexion of the hip is limited. Radio-
graphs may be confusing because the hip may appear
reduced as it lies anterior to the acetabulum.93 If doubt
exists, CT will confirm the diagnosis.
Treatment is difficult at best. Aggressive muscle release
of the proximal hamstrings and, if the hip is abducted, the
abductors and short external rotators must be included in
the surgical reconstruction. A varus shortening osteotomy
of the femur in conjunction with acetabular osteotomy is
recommended to gain anterior coverage. The Pemberton
osteotomy is useful in this patient population because it
augments anterior coverage. Redislocation is a problem, par-
ticularly in hypotonic patients. If pain relief is not achieved,
proximal femoral resection is recommended.576
Management of Upper Limb Involvement in
Cerebral Palsy
Operative treatment of the upper limb can improve the
function of children with CP, but only when the surgical
procedure is chosen carefully and the goals are realistic. Two
basic goals can be achieved when the child is functioning at
a higher level: improvement in function and improvement
in appearance. In children with more severe involvement
who are unable to care for themselves, operative treatment
may be a reasonable option if it facilitates nursing care
(bathing and dressing). The surgeon can achieve some
improvement by three major methods: (1) lengthening of a
tight musculotendinous unit, (2) augmenting a weaker
muscle by tendon transfer, and (3) arthrodesis in an older
child near the end of growth.
With the judicious choice of one or more of these treat-
ments, surgeons can alter the lives of patients in a most
positive way. In the end, however, because the cause of the
condition is in the brain and the operation is performed on
normal muscles and joints in the extremity, the result is
always unpredictable to some degree. This fact must be
understood and accepted by the patient and family.
Sensory Impairment
Evaluation of sensory capacity in children with CP is diffi-
cult, but sensory deficits are recognized to contribute more
to the overall impairment in function than was previously
recognized.664 When somatosensory evoked potentials
(SSEPs) were included, impairment in at least one modality
of sensory function was found in 88% of children with CP.120
Hemiplegic children who received intensive occupational
therapy that concentrated on motor skills alone did not
show improvement in their performance. A therapeutic
focus on sensory rehabilitation is part of the nonoperative
approach to a spastic upper limb.688
Effects on Growth
A limb that lacks normal neurologic input from any
cause will often show abnormal growth. A progressive,
nonproportional, and unpredictable limb length discrepancy
is a common finding in spastic hemiplegia.517 The overall
rate of maturation of the limb is affected, as well as its
length and girth. The cause of this discrepancy is not related
to the overall nutritional status of the child. In a study by
Roberts and colleagues, delays in skeletal maturation on the
affected side in comparison to the nonspastic side averaged
7.3 months.517 Van Heest and co-workers found a correla-
tion between the severity of sensory impairment and the
degree of growth impairment in the affected limb.665
Treatment
Orthopaedic management of limb problems in children
with CP has concentrated on the lower limb. It was believed
that children affected by CP would not benefit from surgi-
cal reconstruction of the upper extremity. In general, if
the child has some volitional use of the hand or even aware-
ness of its presence, surgical intervention can potentially
lessen the deformity and improve the function intrinsic to
that limb.664
Success in the treatment of a spastic limb is determined
by setting reasonable pretreatment goals and by the family’s
acceptance of these goals. The goals of treating a spastic
limb include improvement in function, decrease in defor-
mity, improvement in appearance, and facilitation of custo-
dial care. Volitional use of the hand is the best predictor of
functional improvement after a change in the position of
the hand. However, a change in the position of even a mini-
mally functional hand may significantly alter its role as an
assist hand and may improve the overall well-being of the
child by normalizing the appearance and lessening the social
stigma of spasticity in children who are not mentally or
developmentally delayed.338 An improvement in cosmesis
can be dramatic but is often associated with disappointment
in the lack of a concomitant improvement in function.
Nonsurgical Treatment
Nonoperative treatment of spasticity is directed toward
prevention of contractures, splinting for positional improve-
ment, and hand therapy to improve dexterity, pattern use,
and sensory reeducation.
Casting, Splinting, and Physical Therapy. Inhibitory casting
and aggressive splinting do not improve the results of stan-
dard therapeutic intervention and should be discouraged.159
No evidence has demonstrated that one type of physical or
occupational therapy is more beneficial than any other.
Therapy protocols in which the timing, frequency, and type
of intervention were varied did not reveal one combination
to be of greater benefit than another. Recognition of the
limb and a desire to use the limb are not features that can
be taught by therapy or infused surgically.
Botulinum Toxin. Other forms of nonoperative treatment
of spasticity include muscle relaxants such as baclofen and
botulinum toxin (Botox) to effect a decrease in spasticity.
The function of the antagonistic muscles may be unmasked
and expose the potential for better use of the hand. Plan-
ning of surgical procedures can be based on the results of
selective Botox injections. The ideal patient is one with
marked flexor spasticity, no contracture, and some volitional
control of the limb.124

Contraindications appear to be fixed contractures, lack
of volitional control, and lack of spasticity. Repeated injec-
tions may be needed because of neural recovery. Potential
problems include the development of antibodies to Botox
and the cost of treatment.
Surgical Treatment
Surgical Planning. Surgical treatment of upper limb spas-
ticity in CP, a neuromuscular problem, is limited to what
can be done at the musculoskeletal level. The goals of surgi-
cal treatment must be clearly defined and accepted pre-
operatively. A change in position to facilitate available
function, improve appearance, or facilitate hygiene or cus-
todial care is a clear indication for surgical care and must
be discussed thoroughly with the patient and the family,
who must understand that surgery cannot increase voli-
tional use or sensibility. Most surgical procedures attempt
to restore balance by combinations of soft tissue release
and tendon transfer when possible and by arthrodesis when
soft tissue procedures are inadequate. Selective neurec-
tomy of motor nerves within spastic muscles or by chemical
block also has a place in the treatment of spasticity,
although the results are rarely lasting and difficult to
control. Rhizotomy, a surgical procedure that ablates spinal
motor nerve roots, is generally reserved for cases of uncon-
trolled spasticity in the lower limbs and has little applica-
tion in the upper limb. Surgical goals include release of
contractures that interfere with function, cosmesis, or
hygiene; tendon transfers to restore balance to forearm
rotation and wrist, thumb, and finger position; and joint
stabilization in the situation in which balance cannot be
maintained by soft tissue.
Preoperative Evaluation. Other medical conditions must
be under optimal control before elective surgery is
performed, including any seizure disorder or dental condi-
tion. Coordination of other surgical services to address
lower limb or eye deformity concomitantly may be
appropriate.
Motor Examination. The typical posture of a spastic
upper limb is elbow, wrist, and finger flexion and forearm
pronation. Muscles with fixed contractures and muscles
that are consistently spastic are usually easy to identify.
Athetosis in a muscle is manifested by lack of a contracture
and variable tone in the muscle that allows intermittent full
excursion, often without volitional control. An athetoid
muscle should not be selected as a donor for tendon transfer
because the result is unpredictable (Fig. 35-79).
Dystonia is a movement disorder characterized by rigid
cocontractions of opposing muscles that worsens with emo-
tional overlay and is not amenable to surgical correction.
Bony procedures that increase rigidity are contraindicated
in those with dystonia. EMG with gait analysis can be used
to obtain this information; however, careful clinical exami-
nation may provide the same information to a careful
examiner.
Sensory Examination. Awareness of the limb and dis-
crimination of pain and temperature are critical for incor-
poration of the limb into a use pattern. Detailed and discrete
sensory evaluation is difficult in a child with CP. Some
patients who are able to articulate their perceptions will
describe alterations in the sensibility of the involved hand
CHAPTER 35  Disorders of the Brain e65
FIGURE 35-79  Hyperextensibility of the digits with variable tone
may indicate an athetoid component and should signal caution in
considering tendon transfers to these digits.
that preclude manipulation and identification of small
objects without visual input.
Surgical Techniques for the Elbow
Flexion Contracture. A severe elbow flexion contracture
occurs when very little hand function is present, usually in
a globally involved child. Indications for contracture release
are to improve hygiene or facilitate custodial care. A shoul-
der adduction contracture may be present and can be ame-
liorated at the same time by intramuscular lengthening of
the pectoralis major muscle.
A severe elbow flexion contracture can be relieved by
release of the lacertus fibrosus, Z-lengthening of the biceps
tendon, and lengthening of the brachialis tendon with
several chevron-type incisions through an anterior Z-plasty
or long curvilinear approach. Loss of some active flexion is
expected. The radial nerve must be protected, and the
proximal origin of the brachioradialis muscle can be released
if the elbow is still tight. The elbow is casted in comfortable
extension for 3 weeks until the wounds have healed and
then is splinted intermittently to maintain a range of motion
that allows ease of dressing and positioning for balance and
limited function.
Pronation Contracture. Pronation contracture of the
forearm develops insidiously and, with growth, causes a
rotational deformity of the radius and occasionally disloca-
tion of the distal radioulnar joint (Fig. 35-80). When the
forearm is passively correctable, options for correction of
the deformity are release or rerouting of the pronator
tendon. If the pronator muscle is constantly spastic, with
no in-phase activity, it should not be transferred. Rerouting
of the pronator tendon involves the use of a long
Z-lengthening by prolonging the proximal slip of tendon
with a strip of distal periosteum. Strong, nonabsorbable
sutures placed in half the tendon are used to pass the distal
limb dorsally through the interosseous space and secure it
to the proximal limb with the forearm positioned in full
supination. Regardless of whether the pronator has been
lengthened or transferred, the forearm is protected with a
long-arm cast in full supination for 4 weeks.
e66 SECTION VI  Neuromuscular Disorders
A B
FIGURE 35-80  Acute flexed wrist and hand with pronation of the forearm in a child with cerebral palsy. A, The patient’s upper limb.
B, Lateral radiograph showing volar subluxation of the carpus.
Releasing or rerouting the pronator should be done cau-
tiously when the flexor carpi ulnaris is used for a transfer
to the radial wrist extensors because of the additional supi-
natory torque produced by that transfer.546 A position of
fixed supination is worse than one of pronation.
Surgical Techniques for the Wrist and Fingers. The goal of
surgical procedures on the wrist and fingers is to allow the
fingers to open with wrist flexion for release and to close
with wrist extension for grasp. Fine motor and individual
finger movement is not the intent of surgical procedures on
the wrist and fingers in those with CP. Some wrist flexion
must be preserved to allow finger extension, and wrist
extension strong enough to resist the flexion force of the
fingers is needed for grasp. Achieving this balance is often
difficult.488
Judicious lengthening of the wrist flexors, the flexor carpi
ulnaris at the intramuscular level and the flexor carpi radialis
with a Z-lengthening, and release of the palmaris longus and
superficial fascia will allow the wrist to be brought into an
extended position. The extensor carpi ulnaris is often over-
active as an ulnar deviator but remains in phase as an exten-
sor and is the preferred tendon to transfer into the extensor
carpi radialis brevis. This transfer has less of a supinatory
torque than the Green procedure does (transfer of the
flexor carpi ulnaris to the extensor carpi radialis brevis).
Tension is set with the wrist in maximum passive extension
and the extensor carpi ulnaris in moderate tension as it is
woven into the tendon of the extensor carpi radialis brevis
distal to the first compartment muscles (Plate 35-11).
Extrinsic finger flexion contractures may limit both
finger and wrist extension and can be addressed by length-
ening in the forearm at the intramuscular, tendinous, or
muscle origin level. Fractional lengthening of the flexor pro-
fundus is feasible when flexor tone is such that the surgeon
cannot extend the patient’s fingers passively with the wrist
in neutral position (Plate 35-12). In general, greater length
can be obtained by formal Z-lengthening than at the intra-
muscular level, but at the expense of muscle function and
strength. If more than 45 degrees of wrist flexion is needed
to fully extend the fingers, lengthening by proximal flexor–
pronator origin release is indicated if the desire is to pre-
serve finger flexor function.
Lengthening of the extrinsic finger flexors may worsen
the intrinsic contractures by altering the relationship
between the superficialis and profundus tendon lengths.
Greater relative lengthening of the superficialis weakens
proximal interphalangeal joint flexion while increasing
tension on the lumbrical (which takes its origin from the
profundus tendon) and increases flexion of the metacarpo-
phalangeal joint and hyperextension of the proximal inter-
phalangeal joint, which causes a severe swan-neck deformity
in the presence of intrinsic spasticity. Lengthening of the
intrinsics or superficialis flexor tenodesis may help address
this deformity.
For severe wrist flexion contractures, especially in a non-
functional hand, wrist arthrodesis can offer a solution to
hygiene and care problems (see Chapter 15). Resection of
the proximal carpal row and fusion of the transected capi-
tate and hamate to the distal end of the radius will often
allow sufficient soft tissue decompression and facilitate
release or lengthening of the extrinsic and intrinsic finger
contractures. The released wrist flexors then become avail-
able to augment finger extension in selected cases.
Surgical Techniques for the Thumb. The thumb-in-palm
deformity is common with deforming forces, including the
adductor pollicis and all thumb intrinsic muscles (Fig.
35-81). The approach to thumb-in-palm deformity is to
release contracted soft tissue and then augment the weak

A (i.e., GMFCS level 4 and 5). Series that include patients
B pressure sores.598 Seating imbalance forces the child to lean
FIGURE 35-81  Thumb-in-palm deformity of a spastic hand.
A, The fingers are clenched in the palm over the thumb. B, On
hyperflexion of the wrist, the fingers and thumb extend out of
the palm.
extensors and abductors.547 If the child demonstrates active
thumb interphalangeal extension and has a palpable exten-
sor pollicis longus, simple release of the contracture will
usually suffice to bring the thumb out of the palm. Com-
prehensive release of the origins of the thenar musculature,
while protecting the recurrent branch of the median nerve,
and release of the two heads of the adductor pollicis, while
protecting the deep branch of the ulnar nerve, will bring
the thumb into a position of wide abduction (Fig. 35-82).
Release of the first dorsal interosseous fascia along with
release of the thumb–index web space may also be needed.
The thumb metacarpophalangeal joint is often unstable and
hyperextended. This must also be treated so that extensor
power to the thumb will lift the entire thumb ray and not
increase the hyperextension instability of the metacarpo-
phalangeal joint (Fig. 35-83).504 The joint may be stabilized
by capsulodesis, sesamoid–to–metacarpal head fusion,
metacarpophalangeal arthrodesis, tenodesis of the extensor
pollicis brevis proximal to the metacarpophalangeal joint, or
a combination of these procedures. Augmentation of the
extrinsic extensors and abductors involves tendon transfers
to the first dorsal compartment or the extensor pollicis
longus in its native or rerouted position.
Postoperative care of patients after release of contrac-
tures includes immobilization for a minimum of 3 to 4
weeks, followed by splinting. If a tendon transfer has been
performed, immobilization should be prolonged to 6 weeks,
followed by splinting full-time for an additional 6 weeks.
Thereafter, the splint is worn for protection during strenu-
ous activity. The arthrodesis must be protected until radio-
graphic evidence of healing.
CHAPTER 35  Disorders of the Brain e67
Management of Spinal Deformity
in Cerebral Palsy
Scoliosis
Scoliosis is a significant problem in children with CP that
affects between 25% and 68% of patients.368,381,552 As is the
case with hip instability, the incidence is highest in patients
who are nonambulatory and have total body involvement
who are ambulatory and have milder neurologic involve-
ment yield a lower incidence, whereas those that study
institutionalized patients show a higher frequency. Up to
64% of institutionalized adults with CP have scoliosis.368,646
Patients with spasticity are at higher risk than those with
other movement disorders.368
A typical curve pattern is seen with scoliosis secondary
to CP that differs from that seen with idiopathic scoliosis.
The usual pattern is a long sweeping curve that extends to
the pelvis, with the apex of the curve at the thoracolumbar
junction. Rotation accompanies the coronal-plane curvature
(Fig. 35-84).31,636
Scoliosis leads to difficulty sitting, the functional posi-
tion needed by a wheelchair-bound child. Curvature of the
lumbar spine leads to pelvic obliquity, which can produce
uneven pressure on the ischial tuberosities and eventually
on the upper extremities and become a hands-dependent
or a propped sitter (Fig. 35-85).500
Nonoperative Treatment
Nonoperative treatment of scoliosis with adaptive seating
and orthoses has not met with success. Curve progression
is not controlled by bracing, a fact that has been proved in
many studies. Bracing had no impact on scoliosis curve,
shape, or rate of progression in patients with spastic quad-
riplegia who were observed by Miller and colleagues until
fusion.395 Bracing can lead to skin intolerance in these thin
children, but Letts and colleagues found that seating was
made somewhat easier when a soft orthosis was prescribed.
The brace was used only to allow comfortable seating, not
to treat the curve.347 Wheelchair adaptations can help a
child with scoliosis sit but do little to halt worsening of the
curvature.
Surgical Treatment
With discouraging results from nonoperative treatment, it
would be logical that all patients with scoliosis secondary to
CP would undergo surgical correction. Yet such is not the
case. Spinal fusion surgery carries sufficient risks that it is
not thought to be in the best interest of every child with
neuromuscular scoliosis. When deciding whether a specific
patient should undergo spinal fusion, it is important to
know the natural history of scoliosis in this population of
patients.
Factors in Decision Making. Majd and colleagues moni-
tored all adult patients with CP in a nursing home and
documented whether they had scoliosis and whether their
curves progressed.369 They found that 18% of patients had
significant deterioration in their curves. The larger curves
tended to progress in adulthood at a rate of 4.4 degrees per
year. Three patients had decubitus ulcers, and their average
e68 SECTION VI  Neuromuscular Disorders

Median nerve and

Adductor flexor digitorum
superficialis muscle
pollicis muscle, retracted
oblique and
transverse
heads

Superficial head of Recurrent

flexor pollicis brevis branch of
muscle and abductor median nerve
pollicis brevis muscle
cut and retracted Flexor
retinaculum
Flexor Palmar
B
carpi aponeurosis
radialis
muscle Palmaris longus muscle

Flexor
Palmar cutaneous branch pollicis
A of median nerve brevis
muscle
Flexor
pollicis
longus
muscle

Abductor
Flexor pollicis
digitorum brevis
superficialis muscle muscle

Flexor pollicis
brevis muscle, Opponens
superficial Median nerve pollicis muscle
head
Transverse
D carpal ligament

Abductor
Adductor pollicis
pollicis
muscle (transverse
brevis
Recurrent head)
muscle Flexor
branch of
C retinaculum
median nerve

Deep motor
branch of
ulnar nerve

Flexor pollicis
longus muscle
FIGURE 35-82  A to E, Comprehensive release of the
Deep palmar arch
origins of the intrinsic muscles acting on the thumb will of radial artery
Adductor pollicis
allow positioning of the thumb ray, including the muscle, oblique
abductor brevis, flexor brevis, opponens pollicis, and both head
heads of the adductor pollicis muscles. The thumb is
positioned in wide abduction for 3 weeks afterward. If the
Radial artery
extensor pollicis longus muscle is functional, a tendon
transfer may not be needed. E
 CHAPTER 35  Disorders of the Brain e69

A B

C D

FIGURE 35-83  Deformities of the thumb in cerebral palsy. A, Type I, simple metacarpal adduction contracture. B, Type II, metacarpal
adduction contracture and metacarpophalangeal flexion deformity. C, Type III, metacarpal adduction contracture combined with a
metacarpophalangeal hyperextension deformity or instability. D, Type IV, metacarpal adduction contracture combined with flexion
deformity of the metacarpophalangeal and interphalangeal joints.

curves were greater than 100 degrees, with more than 45

FIGURE 35-84  Long thoracolumbar scoliosis in a 14-year-old
nonambulatory girl with cerebral palsy. The curve is associated
with severe pelvic obliquity, which compromises seating.
degrees of pelvic obliquity.369 Thometz and Simon found
similar results, but the rate of progression of curves greater
than 50 degrees at skeletal maturity averaged only 1.4
degrees per year. They also found that thoracolumbar and
lumbar curves tended to progress more than thoracic curves
did.646 If a curve is greater than 40 degrees by 15 years of
age, it is likely to progress.544
These studies looked at whether curves progressed after
skeletal maturity, but they did not specifically address
whether patients with larger curves were less healthy or
more difficult to nurse. Kalen and associates compared 14
residents of a nursing home who had scoliosis of between
51 and 105 degrees with 42 residents who had either no
scoliosis or small curves. They found that patients with
larger curves had more orthopaedic deformities such as hip
dislocations and that they needed modified wheelchairs. No
difference was found in the incidence of decubitus ulcers,
functional level or loss of function, or oxygen saturation,
however.299 They concluded that problems with functional
loss and decubitus ulcers were seen in equal proportions in
both groups, so the surgical indications for spinal fusion in
those with CP were not clear.
Cassidy and associates analyzed the health and nursing
care of a group of institutionalized patients with CP who
had undergone spinal fusion surgery and a similar group of
patients with scoliosis of greater than 50 degrees who had
not.107 They found no significant difference in pain, pulmo-
nary status, decubitus ulcers, function, or time required for
e70 SECTION VI  Neuromuscular Disorders
FIGURE 35-85  A, Fourteen-year-old girl
with spastic quadriparesis and scoliosis.
Note that she is unable to sit in her
wheelchair properly. B, The clinical
appearance of her spine shows severe
thoracolumbar scoliosis and pelvic
A B
obliquity.
daily care. The nurses caring for these patients, however,
believed that those who had undergone spinal fusion were
more comfortable. Based on this study and the study by
Kalen and colleagues,299 the indications for surgery in
patients who are institutionalized and severely mentally
retarded remain clouded.
Indications. Our current indications for spinal fusion are
the following:
1. Curves greater than 50 degrees in ambulatory patients
2. Progressive curves greater than 50 degrees in patients
who are communicative and aware of their
surroundings
3. Curves that interfere with seating and nursing in patients
whose families desire surgical correction
Because the prevalence of scoliosis increases with the sever-
ity of neurologic involvement, the surgeon is often faced
with the decision whether to operate on children who are
profoundly mentally retarded and unaware of their sur-
roundings. In these difficult cases we believe that it is the
family that often makes the decision to pursue surgery or
not. When surgery is not thought to be in the best interest
of the child and when the family chooses not to “put the
child through” the surgery, modified seating can allow the
child to be moved about.500
Preoperative Evaluation. Once the decision to operate has
been made, a thorough medical evaluation is necessary.681
Malnutrition is frequently a problem in these patients and,
when present, predisposes to infection and delayed wound
healing. Laboratory studies, including measurement of
serum protein and albumin and a total lymphocyte count,
are useful in assessing the nutritional status of the child. A
serum albumin level of 35 g/L and a total lymphocyte count
of 1500 cells/mm3 have been established as levels below
which complications occur more frequently.291 Gastrostomy
tube feedings may be necessary preoperatively to lessen the
risk for complications. Aspiration has been documented in
69% of patients with total body involvement of CP.181 If
aspiration occurs in the postoperative period, pneumonia
frequently results, thus prolonging the hospital stay of the
child and even resulting in death in some children. In
patients with gastroesophageal reflux, pancreatitis and
feeding difficulties are also more likely to develop postop-
eratively.78 Preoperative swallowing studies should be per-
formed in patients suspected of aspirating, and referral to
a pediatric surgeon should be made when these studies
confirm aspiration. Certain seizure medications that are fre-
quently used in patients with CP can increase blood loss by
interfering with coagulation. Patients treated with dival-
proex (Depakote) or valproate (Depakene) will have normal
routine coagulation profiles—that is, prothrombin time and
partial thromboplastin time—but prolonged bleeding times.
Platelet counts may also be decreased by these medica-
tions.681 Preparations for large intraoperative blood loss
must be made.286 Use of antifibrinolytic medications such
as tranexamic acid at the start of surgery has been shown
to decrease blood loss but not decrease transfusion require-
ments. Consideration for use of these agents should be
given.166
Choice and Timing of Procedures. No distinct guidelines
have been recommended for when anterior release, diskec-
tomy, and fusion are necessary in patients with CP. Before
the advent of segmental sublaminar or pedicle fixation,
combined anterior and posterior fusion was recommended
for all patients with scoliosis and pelvic obliquity.89 The
addition of anterior fusion reduced the pseudarthrosis
rate from 22% to 5.4% in a series published in 1983 by
Lonstein and Akbarnia.355 Today, more secure segmental
fixation has necessitated anterior fusion in only a small

subset of patients. In younger patients with open triradiate
cartilage, the crankshaft phenomenon may develop with
isolated posterior fusion in the presence of postoperative
anterior vertebral growth. These patients are best served by
anterior fusion combined with posterior instrumentation
and fusion. Severe, stiff curves may require anterior release
and fusion to improve the surgical correction of the defor-
mity.169 Rinsky proposed that curves greater than 70 degrees
be released anteriorly before posterior instrumentation and
fusion.516 Boachie-Adjei and colleagues recommended pre-
liminary anterior release and fusion for curves greater than
90 degrees and for curves in which a stretch supine radio-
graph showed lack of correction of pelvic obliquity.75 Ante-
rior instrumentation offers no additional benefit over simple
diskectomy and fusion. Keeler and co-workers compared
patients treated with anterior or posterior fusion along with
intraoperative halo-femoral traction. They found similar
correction, less operative time, and less blood loss in the
posterior group using intraoperative traction.309 We too use
intraoperative traction in many of these patients.
In the past, anterior release and fusion and posterior
fusion were staged 1 to 2 weeks apart, with some surgeons
placing the patient in traction between the two proce-
dures.80,516 Anterior release and fusion can be accomplished
under the same anesthetic as posterior instrumentation and
fusion. Although complications are frequent regardless of
the timing of the surgeries, Ferguson and associates found
that nearly twice as many neuromuscular patients who
underwent same-day anterior and posterior surgery
remained complication free as patients who underwent
staged procedures. Same-day surgery decreased total anes-
thetic time, surgical blood loss, and hospital stay. Addition-
ally, the nutrition of patients was better if the anterior and
posterior approaches were done on the same day because
they had to recover from only one very large surgery instead
of two large surgeries.198,441 Opposing data from the Dupont
Institute found higher blood loss, complication rates, and
mortality with same-day anterior and posterior spinal
fusion.651 In cases in which anterior fusion is needed, we
perform anterior and posterior surgery on the same day
whenever possible in our patient population.
Precautions. Surgical treatment of scoliosis in patients
with CP differs from that for idiopathic scoliosis. The bone
in nonambulatory patients is osteopenic, so hook sites may
be weak, thereby leading to disengagement of hooks and
loss of fixation. In patients with neuromuscular scoliosis,
segmental fixation is preferred. The Luque technique,
which uses sublaminar wires at each level, distributes the
corrective forces equally throughout the spine. Loss of fixa-
tion rarely occurs, and bracing is not needed in the postop-
erative period. The children can be mobilized immediately
after surgery, thus lessening the risk for pulmonary compli-
cations such as pneumonia and atelectasis. Correction is
usually achieved readily and maintained.
The use of sublaminar wires does impose a greater neu-
rologic risk, however, because each wire must be passed
between the lamina and the dura. Generous removal of the
ligamentum flavum with Kerrison rongeurs can facilitate
passage of the wires. Careful contouring of the wires must
be done to minimize protrusion of the wire beneath the
lamina. The wires must always be pulled up away from the
dura, never pushed into the canal, and the wires are bent
CHAPTER 35  Disorders of the Brain e71
along the surface of the lamina after passage to prevent
bouncing the wire down on the dura as the surgery
continues.
The best way to avoid pseudarthrosis in this patient
population is to perform a meticulous dissection and fusion.
We perform facetectomies, decorticate the entire spine and
the exposed part of the sacrum, and apply copious amounts
of bone graft to facilitate fusion. Because of the pelvic
extensions of the rods, autograft from the iliac crest cannot
be obtained in sufficient quantity to adequately graft the
entire area to be fused. For this reason, allograft bone is
used for the fusion.405
As always, it is important to contour the rods carefully
in the sagittal plane for thoracic kyphosis and lumbar lor-
dosis. Hyperlordosis is commonly present in the lumbar and
thoracolumbar curves and can lead to increased difficulty
sitting and discomfort. Spines with extreme hyperlordosis
can be difficult to instrument posteriorly and are frequently
associated with increased surgical blood loss. If hip flexion
contractures are contributing to the lordotic posture, hip
flexor releases may improve the deformity before spinal
surgery.
Intraoperative spinal cord monitoring should be per-
formed. Although a series from Rancho Los Amigos showed
only 53% successful tracings in patients with CP,34 others
have had greater success in being able to monitor SSEPs.
Transcortical motor responses can be more difficult to
measure in patients with severe CP.171 Ecker and colleagues
were able to measure cervical/brainstem SSEPs in 31 of 34
patients with CP, with one false-positive and no false-
negative tracings.189 Loder and colleagues found that spinal
cord monitoring in neuromuscular patients revealed many
intraoperative changes, particularly during tightening of the
sublaminar wires, but that very few of these events led to
neurologic change.352 We continue to use spinal cord moni-
toring whenever possible in patients with CP undergoing
spinal surgery.
In recent years, the use of indwelling intrathecal baclofen
pumps has become more prevalent. It should be expected
that the catheter will be in the way of the surgery, so a repair
kit should be made available in these cases. We find it easiest
to clamp and transect the tubing during exposure of the
spine and reanastomose it at completion of the procedure.
In patients in whom the catheter requires reinsertion, head-
ache can develop postoperatively if leakage of cerebrospinal
fluid occurs.574
Segmental Instrumentation of Scoliosis. Segmental instru-
mentation is recommended in patients with scoliosis sec-
ondary to CP. Wires are placed at each level through the
base of the spinous process and connected to either a Har-
rington or a Luque rod.178,608 Although it is neurologically
safer to keep the wires out of the spinal canal by placing
them through the base of the spinous processes, most
authors still prefer the Luque technique because it allows
greater correction and better sagittal contouring with less
loss of fixation.
With the growing acceptance of pedicle screw fixation,
hybrid or all-screw spinal instrumentation constructs are
being used more often in patients with CP, with fixation
including screws, sublaminar wires, hooks, and various types
of pelvic fixation. Correction of deformity can be maxi-
mized with such techniques (Fig. 35-86).653,687
e72 SECTION VI  Neuromuscular Disorders

A B

FIGURE 35-86  A, Nineteen-year-old

nonambulatory male patient with
spastic quadriplegia and scoliosis
that is interfering with sitting.
B, Preoperative sitting radiograph.
C and D, Postoperative radiographs
after posterior spinal fusion to the
pelvis with hybrid fixation that
included iliac screws, lumbar pedicle C D
screws, and sublaminar wires.

In patients with idiopathic scoliosis, it is the rule to
instrument and fuse as little of the spine as possible while
correcting and stabilizing the curve. In scoliosis secondary
to CP, the opposite is true. The rule is to instrument and
fuse long, with the fusion extending from the second tho-
racic vertebra to the pelvis in nonambulatory patients and
to the lower lumbar spine in those who do walk. Fusing
short often leads to additional levels being involved in the
curve over time.117 Some authors have had success fusing
to L5 without inclusion of the pelvis, particularly in older
patients with milder deformities.627 Nonetheless, pelvic
obliquity is best improved and the correction maintained by
fusion to the pelvis. The surgeon should be aware of the
patient’s iliac anatomy because asymmetry in iliac rotation

has been described in conjunction with pelvic obliquity in
this patient population.320 Isolated anterior fusions for
lumbar and thoracolumbar curves may be tempting, yet
time has shown that short fusions may not be adequate in
the long run, and reoperation for a curve that has added
levels is difficult. Additionally, kyphosis may result from
stopping the fusion in the midthoracic spine as the patient
leans forward in the wheelchair.87,516
Use of a 1 4 -inch rod is preferred over a 316 -inch rod
whenever possible. Rod breakage is significantly less with
the larger rods.87,215,516 Rigid cross-links should be used to
prevent migration of the rods relative to one another and
loss of correction of pelvic obliquity.
Galveston Technique. Fusion of the spine to the pelvis
may be accomplished with the Galveston technique, as
described by Allen and Ferguson (Fig. 35-87).21 The poste-
rior iliac wings are exposed by stripping the gluteal muscles
from the outer table. The sciatic notch should be identified.
A drill is used to create a passage for the rod from the
posterior superior iliac spine along the transverse bar
between the inner and outer tables of the ilium. The rods
should be inserted 6 to 9 cm within the ilium and come to
lie just superior to the sciatic notch.22
Contouring of the Galveston bend requires practice
because the rod must make two bends that are three
dimensional.23 The rod is divided into three sections: the
spinal segment, the sacral segment, and the iliac segment.21
The bend between the spinal segment and the sacral
segment is made first. Less experienced surgeons must
remember that the bend itself will take up approximately
1 to 2 cm of rod. A 60- to 80-degree bend is made and
checked next to the patient’s spine. A second bend is then
made distally with a rod clamp and a tube bender to drop
the rod down into the ilium. Finally, the spinal segment of
the rod is bent to accommodate the scoliosis and sagittal
contouring of the kyphosis and lumbar lordosis. The rod
must fit easily within the prepared site in the ilium because
forcefully manipulating the rod may lead to it cutting the
ilium out.
Alternatively, a unit rod can be used. A unit rod is a single
U-shaped rod that is precontoured with the Galveston bend
for insertion into the iliac wings of the pelvis. With the rods
seated within the iliac crests, the proximal aspect of the rod
can be levered to correct pelvic obliquity and then bent in
situ and wired down onto the laminae for correction of
scoliosis. Biomechanically, the technique offers stable fixa-
tion, but it is more technically challenging than using two
Luque rods inserted into the pelvis with cross-links. It is
particularly difficult to use when lumbar hyperlordosis is
present.170 Studies have shown superior correction of scolio-
sis ranging from 55% to 78%.59,169 Correction of pelvic
obliquity with a unit rod can average up to 82%.98,371
Dunn-McCarthy Technique. Another form of fixation
that is suitable for many patients with CP is the Dunn-
McCarthy technique, in which two S-shaped rods are placed
over the sacral alae (Fig. 35-88). Up-going lamina hooks or
pedicle screws are placed more proximally, and distraction
is applied to seat the rods firmly against the sacral alae.383
Segmental fixation is then completed with wires or hooks.
The advantage of this system is that the sacroiliac joint is
not crossed, which should lead to less movement and loos-
ening over time than with the Galveston technique, after
CHAPTER 35  Disorders of the Brain e73
which loosening of the rods within the iliac wings occurs
commonly (Fig. 35-89). Exposure of the sacral ala sites is
less time-consuming than preparation of the ilium for the
Galveston rod. Correction of scoliosis averaged 70% in a
group of 17 patients with CP treated with S-rod fixation to
the sacrum.382 Postoperative complications are similar to
those seen with Galveston fixation—wound infections,
pressure sores, and occasional loss of sacral fixation. Neu-
ropathic pain can result from nerve root irritation secondary
to rod contact on the anterior sacrum.
Iliac and Sacroiliac Screw Fixation Technique. Recent
advances in modular spinal instrumentation have improved
the ease and security of pelvic fixation in neuromuscular
patients undergoing spinal fusion to the pelvis. Iliac screws
may be placed in the traditional trajectory of Galveston
fixation between the tables of the ilium just proximal to the
sciatic notches. These screws should be recessed into
the posterior iliac spines or they will become prominent
beneath the skin of these thin children. The screws
may then be connected to the spinal fixation of choice
(Fig. 35-90).
Sponseller has studied sacroiliac screw fixation in adoles-
cents with CP. These screws have a starting point in the
sacral alae, cross the sacroiliac joint, and terminate between
the tables of the ilia. Advantages of these screws are that
they are less prominent than iliac screws and the starting
point is in line with pedicle screw fixation, thus obviating
the need for a connector, over which it may also be difficult
to achieve soft tissue coverage. A comparative study found
that sacroiliac screw fixation provided better correction of
pelvic obliquity and fewer cases of implant prominence than
did other forms of iliac fixation in patients with neuromus-
cular conditions (Fig. 35-91).610
Growing Rod Instrumentation. Growing rod instrumen-
tation has been used in small numbers of very young chil-
dren with CP and scoliosis. Pelvic fixation is typically
required to address concomitant pelvic obliquity but unfor-
tunately is prone to fracture necessitating revision.609 Deep
wound infection has been reported in up to 30% of these
young patients.384
Complications. Patients who undergo surgical correction
of scoliosis have a high likelihood of postoperative com-
plications. In some series, complication rates have been as
high as 58% to 62%.214,357 Pseudarthrosis may occur in up
to 10% of children treated with modern instrumentation
techniques. Radiographic evidence of movement of the iliac
extensions of the iliac screws or Luque-Galveston rods
within the pelvis, manifested as radiolucency around the
implants, is frequently seen. This “windshield wipering”
was documented in 26 of 68 patients in one series but
was not necessarily symptomatic in most children (Fig.
35-92).214
Postoperative curve progression has been seen after pos-
terior spinal fusion with Luque instrumentation (33%). This
high rate of curve progression was attributed to failure to
fuse to the pelvis, not fusing proximally enough, and failure
to perform anterior fusion in immature patients.117 The
crankshaft phenomenon has also been observed in skeletally
immature patients with CP who underwent isolated poste-
rior spinal fusion with either Luque or Luque-Galveston
instrumentation.556
e74 SECTION VI  Neuromuscular Disorders

A B

C D
FIGURE 35-87  A, Eleven-year-old girl with spastic quadriparesis and scoliosis measuring 87 degrees. B, Posterior spinal fusion was
performed with Luque rods, sublaminar wires, and the Galveston technique to extend the fusion to the pelvis. C, The rods are contoured
in the sagittal plane. D, Fixation was maintained and the fusion has consolidated 5 years postoperatively.
 CHAPTER 35  Disorders of the Brain e75

A B

C D
FIGURE 35-88  A and B, Preoperative radiographs of a 13-year-old girl with scoliosis measuring 79 degrees secondary to cerebral palsy.
C and D, Posterior fusion with sublaminar wires and Dunn-McCarthy instrumentation was performed from T3 to the pelvis. The rods are
seated over the sacral alae.
e76 SECTION VI  Neuromuscular Disorders

FIGURE 35-89  Radiograph of the pelvis after posterior spinal fusion

with extension to the pelvis via the Galveston technique. Note the
radiolucent halos surrounding the iliac portion of the rods as a
result of loosening.

78o

FIGURE 35-90  Standing radiograph of 10+9 females

10-year-old, Gross Motor and Functional r-0
Classification System level 3 girl with
cerebral palsy after posterior spinal
fusion from T2 to the pelvis using an all
pedicle screw construct and iliac screw A B
fixation.

A B
FIGURE 35-92  Anteroposterior pelvic radiograph of a patient who
underwent posterior spinal fusion for scoliosis secondary to
cerebral palsy via the Luque-Galveston technique. The
radiolucency present around the iliac portion of each rod is
indicative of loosening. The patient was asymptomatic.
Wound infection is a common problem after scoliosis
surgery in patients with CP.355,638 Wound infection is most
likely in malnourished patients,182,316 in those who receive
an allograft, and in those with greater cognitive impair-
ment.606 Infection with gram-negative organisms is seen
more frequently in the CP population because of
CHAPTER 35  Disorders of the Brain e77
FIGURE 35-91  A, Anteroposterior spine
radiographs of a 16-year-old, Gross
Motor and Functional Classification
System level 3 girl. B, Pelvic fixation
was achieved with sacroiliac screws.
contamination from the diaper in patients with bowel and
bladder incontinence. When infection occurs, it is usually
located in the distal part of the incision.638 Hematomas
frequently accumulate in patients with CP and may also
become infected. Wound infection occurred in 9.4% of a
large series of patients undergoing fusion at the Dupont
Institute and was linked to increased residual curve and
implant-related wound breakdown,402 and a multicenter
study of 157 children found that infection developed in
10% and was linked in their study to an increased preopera-
tive white blood cell count and use of the unit rod.607 When
infection does occur, it generally responds to multiple irriga-
tion and débridement, hardware removal is rarely necessary,
some curve correction may be lost, and time to recovery
will be prolonged.291,474,638 The addition of gentamicin to the
allograft or vancomycin in the wound has been shown to
decrease infection rates in these patients.77,374,402,607
Decubitus ulcers can occur after spinal fusion. The pro-
longed recumbency of thin, malnourished patients predis-
poses to the development of bed sores. Persistent pelvic
obliquity can also create uneven pressure over the ischium
while sitting and lead to skin breakdown.214
Progression of deformity may occur after spinal instru-
mentation and fusion in patients with CP. Reasons for curve
progression are addition to the curve through unfused and
uninstrumented segments (i.e., below the distal end of a
fusion that does not extend to the pelvis)117 and pseudar-
throsis with or without rod breakage. Additionally, cases
e78 SECTION VI  Neuromuscular Disorders
have been described in which the iliac fixation was lost
because of perforation of the rod through the ilium. Revi-
sion surgery is possible but carries a high risk for subsequent
complications.170
Results. Several reports of parent and caregiver perceptions
about the outcome of spinal fusion in children with CP have
been published. Parents voice high satisfaction with the
results of surgery and state that appearance, ease of care,
and quality of life are improved after spinal fusion.76,652
Improvement in pain may not occur until 1 year after
surgery.293
Spondylolysis and Spondylolisthesis
Bleck first proposed that hip flexion contractures and
increased lumbar lordosis may lead to an increased inci-
dence of spondylolysis and back pain in patients with CP,
although it appears that weight bearing is a prerequisite for
development of a pars stress fracture, which occurs univer-
sally at L5, the bridge between the lumbar spine and the
sacropelvis. Although Hennrikus and associates did not
report an increased incidence of spondylolysis in their
patients,262 Harada and co-workers found spondylolysis in
21% of 84 patients with spastic diplegia. Patients with spon-
dylolysis had greater lumbar lordosis and smaller sacrofemo-
ral angles than did patients without pars fractures.253 Dorsal
rhizotomy may predispose patients to spondylolisthesis
inasmuch as 12% of patients in one study had spondylolis-
thesis at a mean of only 4.2 years of follow-up.603
Cervical Spine Spondylosis in Athetoid Cerebral Palsy
Patients with athetoid-type CP are prone to the develop-
ment of cervical spondylosis and resultant myelopathy
based on the movement disorder. Athetoid patients have
uncontrollable writhing movements, and the neck is rapidly
flexed and extended in what has been described as a “whip
movement.”188 This motion places bending and shear
moments on the upper cervical spine, which leads to spon-
dylosis over time. Symptoms develop as early as late ado-
lescence but more commonly in early adulthood. Complaints
consist of neck pain and arm pain, with weakness and
decreased sensation in the arms and legs present on physical
examination. Patients who are able to walk and communi-
cate note deterioration in their gait. Deep tendon reflexes
are increased, but this is commonly seen in most patients
with CP and may not be helpful in differentiating those
with cervical cord embarrassment.
Radiographs show flattening of the anterosuperior aspect
of the vertebral bodies with osteophytes at the anteroinfe-
rior margins. The disk spaces are narrow. Increased move-
ment is seen on flexion–extension lateral radiographs. A
study by Harada and co-workers also showed stenosis of the
spinal canal in patients with athetosis, which may predis-
pose to neurologic injury.254 The most frequent levels
involved are C3-4 and C4-5.187
Treatment is surgical. Laminectomy is contraindicated
because it does not correct the problem of instability. Nishi-
hara and associates reported successful results with anterior
interbody fusion and postoperative immobilization in a halo
vest. They warn of the tendency for degeneration of levels
adjacent to the fusion.432 Others advocate combined ante-
rior and posterior spinal fusion.254,394
Rhizotomy
Selective dorsal (or posterior) rhizotomy is a neurosurgical
procedure in which a percentage of the dorsal roots are
severed at the level of the cauda equina to reduce spastic-
ity.447 Spasticity is improved by reducing stimulatory input
from the muscle spindles of the lower extremities that
arrive via afferent fibers in the dorsal roots.510 This surgery
as currently performed was described by Fasano195 and
popularized in the United States by Peacock.464
Indications
The rate of good results after rhizotomy depends most criti-
cally on proper patient selection. Ideal candidates are
younger than 8 years, with some advocating rhizotomy at
very early ages—between 2 and 4 years.113 Children older
than 10 years at the time of surgery have been found
to show a decrease in gross motor function following rhi-
zotomy when compared with a similarly aged group of
children undergoing orthopaedic surgery.367 Candidates
must have purely spastic CP. Patients with ataxia, athetosis,
dystonia, or rigidity are not candidates. Candidates should
have no fixed contractures, and they must be able to ambu-
late without relying on spasticity for strength. The antigrav-
ity muscles or trunk musculature should have no
weakness.465,666 Finally, patients must have supportive fami-
lies and be able to cooperate with the postoperative physical
therapy. Patients who fulfill all these criteria are likely to
have a good result from rhizotomy because they are func-
tional, intelligent, and mildly affected. It follows that these
patients might also be the best candidates for orthopaedic
surgery rather than rhizotomy, a debate that remains
unresolved.
Surgical Technique
Surgery entails laminectomy from L2 to L5 or S1. The
facets are preserved. The dorsal roots are identified and
subdivided into rootlets. Usually, 25% to 50% of the poste-
rior nerve rootlets from L2 to S2 are divided under EMG
guidance,466 and the laminae can be replaced at the end of
surgery.116,587
Postoperative Care
Postoperative care focuses on aggressive physical therapy to
restore strength. Once spasticity is relieved, underlying
weakness of the muscles may become apparent, and physi-
cal therapy is prescribed three to five times a week.
Results
Studies have shown decreased tone and increased joint
range of motion after rhizotomy.466,620 Peacock and Staudt
found that 82% of patients continued to improve 3 to 7
years postoperatively.466 Studies using gait analysis have
shown improvements in stride length and sagittal-plane hip,
knee, and ankle motion after rhizotomy.5,232,643,666 These
improvements are seen at 1 year after rhizotomy, with little
change occurring between 1 and 2 years postoperatively.643
Because the hip flexors are more proximally innervated,
anterior pelvic tilt is usually increased after rhizotomy.80
Carroll and associates found that 29 of 112 patients who
underwent rhizotomy used fewer walking aids postopera-
tively and that 3 who were unable to walk could do so after
surgery. No objective improvements in ambulatory status

occurred in the remaining patients.106 Although rhizotomy
is believed to result in weakness of the lower extremities,
this has not been objectively proved in studies of muscle
strength.96,113
Results 10 years following selective dorsal rhizotomy
reach conflicting conclusions. In a study of 19 children
observed for 10 years after rhizotomy, spasticity returned
in the knee and ankle. Sixteen of 19 children had undergone
an average of three orthopaedic surgical procedures by 10
years after selective dorsal rhizotomy, most frequently for
correction of ankle equinus, hamstring tightness, and hip
subluxation.640 Another study of 29 children found contin-
ued decreased tone at 10 years, but little difference in
passive range of motion. Sixteen of 29 children underwent
orthopaedic surgery, mostly involving the foot.294
An unexplained improvement in upper extremity use
also occurs after lumbar rhizotomy.18,353 Thirty-four percent
experience an improvement in speech.619 These supraseg-
mental improvements are theorized to occur as a result of
the decrease in excitatory activity entering the spinal cord
through the posterior roots from the lower limbs and
spreading throughout the spinal cord along the propriospinal
tracts.619 Improvements in cognition and attention have also
been described.128
Outcome studies using validated measurement tools are
being performed to assess functional results after rhizotomy.
In a small group of patients, self-care, mobility, and social
functional skills were thought to improve when assessed by
the Pediatric Evaluation of Disability Inventory (PEDI)
tool.74 A similar prospective study found that mobility and
self-care improved after rhizotomy in patients with spastic
diplegia but not in those with spastic quadriplegia.183 Other
studies have used the Gross Motor Functional Measure
(GMFM) to document functional improvement.389,685
Complications
Complications can occur with rhizotomy surgery.639 As with
any major surgery in this patient population, postoperative
pulmonary complications occur frequently. Sensory distur-
bance as a result of sacrifice of some sensory rootlets has
been described in patients after rhizotomy.2 Up to 40% of
children experience painful postoperative dysesthesias of
the legs. Patients are at risk for neurogenic bladder, with an
inability to void. Patients at greatest risk are those who have
spastic bladders preoperatively, a condition manifested by
frequent urinary tract infections, constipation, and daytime
incontinence.1 The changes in bladder function are usually
transient.619
Orthopaedic complications are related to residual con-
tractures, hip subluxation, and spinal deformity. Subsequent
orthopaedic surgery is required in more than half the
patients who undergo rhizotomy, and Oppenheim suggested
waiting 6 to 12 months after rhizotomy to release contrac-
tures.447 Carroll and colleagues found that 65% of patients
who underwent rhizotomy needed subsequent orthopaedic
surgery (37% required correction of planovalgus deformity;
25% required hip reconstruction for subluxation).106 In the
only study that compared patients who underwent ortho-
paedic releases with patients who underwent rhizotomy,
subsequent orthopaedic procedures were required in 62%
of the rhizotomy group and 44% of the orthopaedic
surgery group at an average follow-up of 4 years, although
CHAPTER 35  Disorders of the Brain e79
the study was not randomized and long-term follow-up was
necessary.373
Greene and co-workers raised awareness of postopera-
tive hip subluxation after rhizotomy in the first postopera-
tive year.238 Park and colleagues found that the MI increased
in only 8% of hips after rhizotomy and that coverage
improved in 17%; however, longer follow-up would have
probably revealed more cases of subluxation.460 In a more
recent study, hip subluxation as measured by the CE angle
improved in 38% and worsened in 18% of 82 patients moni-
tored for an average of 4 years after rhizotomy.265
Patients who have undergone rhizotomy and in whom
femoral osteotomy was performed for progressive sublux-
ation have a peculiar predisposition to the development of
heterotopic ossification. Ossification should be suspected in
patients who lose range of motion postoperatively.463
A mechanism whereby subluxation might develop after
rhizotomy has been proposed. The hip flexors are inner-
vated by the L1 and L2 roots. Rhizotomy sections the
posterior rootlets, starting proximally at L2. The hip exten-
sors are more distally innervated. Denervation of the hip
extensors is greater than that of the hip flexors after rhi-
zotomy. Because spasticity in the iliopsoas contributes to
hip instability, preservation of greater hip flexor tone can
lead to hip subluxation in predisposed patients.238
Increased hip flexion in the presence of weak hip exten-
sors can also result in hyperlordosis of the lumbar spine
after rhizotomy, which is seen most frequently in nonam-
bulatory patients (Fig. 35-93).130,407 Surgical correction of
this deformity is very difficult, and the risk–benefit ratio of
rhizotomy in the nonambulatory population should be
considered.
Spondylolysis, spondylolisthesis, and scoliosis have also
been seen in patients who have undergone rhizotomy, in
some many years later (Fig. 35-94).47,222,475,476 A spinal
deformity, in general, may occur in 36% of selective dorsal
rhizotomy patients.654 Peter and colleagues found an abnor-
mally high rate of isthmic spondylolysis in patients who
underwent rhizotomy.477 Spondylolysis and spondylolisthe-
sis occurred in 20% of their patients but were asymptom-
atic.475,476 In conclusion, patients treated by rhizotomy
should be observed for possible spinal deformity.
Management of Fractures in Cerebral Palsy
Long-bone fractures occur frequently in patients with
CP.91,340,350 Sixty-six percent of fractures occur in patients
with spastic quadriplegia, most of whom are nonambulatory,
and most involve the lower extremities.491 Bone mineral
density, measured by dual-energy x-ray absorptiometry, is
decreased in patients with CP, with the most significant
decreases seen in nonambulatory patients with poor nutri-
tion.261 Low levels of vitamin D have been documented in
up to 42% of children with severe CP,340 but others did not
find that the vitamin D level correlated with osteopenia or
osteomalacia.260 Hypovitaminosis D has been seen with
increased frequency in patients who are taking anticonvul-
sant medication.29,340,341 Lack of exposure to sunlight has
been implicated as yet another cause of rickets and fractures
in institutionalized patients.412 Older patients who take val-
proic acid for treatment of seizures have also been found to
be highly at risk.345
e80 SECTION VI  Neuromuscular Disorders

A B

C D E
FIGURE 35-93  A, Clinical appearance of a 17-year-old girl with hyperlordosis after posterior rhizotomy. B, Radiograph revealing severe
lumbar lordosis. C, Accompanying scoliosis is present. D and E, Radiographs after posterior spinal fusion from T3 to the pelvis via
Dunn-McCarthy instrumentation achieved an excellent sitting position.

Up to 74% of fractures occur in the femur, particularly
at the supracondylar level.91 Factors associated with an
increased tendency for fracture are joint stiffness and recent
surgery. Pritchett found a 20% incidence of femoral fracture
in patients with untreated hip dislocations.493 Yet patients
who have undergone hip surgery are most likely to experi-
ence femoral fractures during the months after cast removal.
A 1993 study found that 29% of nonambulatory children
who were operated on for hip instability sustained a femoral
fracture within 3 months after cast removal.625
Treatment of osteopenia begins with vitamin D supple-
mentation. The addition of bisphosphonate treatment has
been shown to increase bone mineral density and decrease
fracture frequency in some patients with CP who sustain
 CHAPTER 35  Disorders of the Brain e81

A B C

D E F
FIGURE 35-94  A and B, Clinical appearance of a 13-year-old boy with significant scoliosis who underwent rhizotomy. He is unable to
sit independently without propping with his arms. C, Anteroposterior sitting radiograph. Note the marked pelvic obliquity. D and E,
Posterior spinal fusion was performed with sublaminar wires proximally and pedicle screws in the previously operated area. The pelvic
obliquity was addressed with Dunn-McCarthy rods. F, Radiograph 4 years after surgery showing failure of implants because of
pseudarthrosis.

multiple fragility fractures.196,587 Fractures are usually

treated by cast immobilization.340,616 Because immobiliza-
tion leads to further demineralization, the time spent in a
cast should be kept to a minimum. Femoral shaft fractures
are difficult to manage in traction386 and may require inter-
nal fixation with plating or intramedullary devices.334,625
Orthopaedic surgeons who treat children with CP should
be aware of an increased incidence of child abuse in this
patient population. Abuse may be the cause of the CP, but
an equally large proportion of patients are abused after the
diagnosis of CP as a response to the diagnosis.168 Suspicion
should be increased whenever the history of the injury is
peculiar.
Outcome Assessment
The recent focus in medical research has been on documen-
tation of outcome after intervention, whether medical or
surgical. Goldberg published a thought-provoking summary
of the status of outcome analysis in CP in 1991. Outcome
studies must address three areas: the technical outcome of
the procedure, an assessment of functional health status,
and patient satisfaction.219 Current methods of assessing
surgical outcome are gait analysis, the GMFM, the Wee-FIM
(a pediatric measure of functional independence), the
PEDI, the Child Health Questionnaire, and the Pediatric
Outcomes Data Collection Instrument (PODCI).142,684 The
e82 SECTION VI  Neuromuscular Disorders
PODCI includes the following domains: upper extremity
function, transfers and mobility, sports participation, pain
and comfort, global function, and happiness with the physi-
cal condition. Reference mean PODCI scores have been
published for comparison across GMFCS levels and age
groups of children with CP.46
The GMFM and Wee-FIM are generally administered
by therapists who evaluate the ability of the patient in
crawling, running, or fine motor skills. Ceiling effects of the
Wee-FIM have been described in patients who have less
neurologic involvement (i.e., spastic hemiplegia) following
lower extremity surgery.557
In CP in particular, many widely differing forms of treat-
ment are available, all of which change the child without
curing the disease. The PODCI has been used to evaluate
parental satisfaction after lower extremity SEMLS.342 In
another study, the PODCI, Pediatric Quality of Life Ques-
tionnaire, and Functional Assessment Questionnaire Walking
Score were administered to patients and parents before and
after SEMLS. Objective improvements in physical func-
tioning were seen, but without increases in the happiness
or pain domains of the PODCI.136 In the future, orthopae-
dic surgeons treating children with CP can expect to see
more objective documentation of how each intervention
changes the abilities of the child.229
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e96 SECTION VI  Neuromuscular Disorders
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Rett Syndrome
Diagnosis
Rett syndrome is a neurodegenerative condition seen in girls
that consists of mental retardation, seizures, and character-
istic wringing of the hands. The incidence of Rett syndrome
is 1 per 10,000 to 15,000 girls.2 The International Rett
Syndrome Association has established the following criteria
for the diagnosis of Rett syndrome: normal prenatal and
perinatal period; normal development through the first 6
months of life; normal head circumference at birth, with
subsequent deceleration of head growth; loss of purposeful
hand skills; severely impaired language; apparent severe
mental retardation; and gait apraxia. Supportive criteria
include respiratory dysfunction, seizures, spasticity, scolio-
sis, and growth retardation.3
CHAPTER 35  Disorders of the Brain e97
Conditions from which Rett syndrome must be distin-
guished include CP, developmental delay, autism, metabolic
syndromes such as Sanfilippo syndrome, and psychological
disturbance. Rett syndrome is often misdiagnosed initially,
and patients are usually thought to have CP.14,30
Pathogenesis
Rett syndrome is an X-linked dominant condition.3,32 The
disease results from missense or nonsense mutations in the
methyl-CpG binding protein-2 (MECP2) gene, which is a
transcription regulatory gene.1,2 Mutations can be docu-
mented in 70% to 95% of clinically affected patients with
Rett syndrome.21 Many different specific mutations have
been identified, which some believe are responsible for the
phenotypic variability seen in different patients.22 Muta-
tions in the CDKL5 gene, which is related to MECP2 by
being in the same molecular pathway and is also on the X
chromosome, have been found in a small group of patients
with Rett syndrome and early-onset seizures.31 Rett syn-
drome is usually sporadic and results from a de novo muta-
tion.19 Familial recurrence is rare, but on occasion the
condition occurs in sisters.38 Rare cases of males with Rett
syndrome result from genetic mosaicism.34
Clinical Features
The classic description of Rett syndrome states that loss of
hand function and regression in development may be noted
as early as 6 to 18 months of age and that a definitive diag-
nosis cannot usually be made until 2 to 5 years of age.4
Recent work has shown that the belief that the infant girl
is “normal” the first 6 months of life may be incorrect.
Movement disorders consisting of tongue protrusion,
unusual finger movements, stiffness, and abnormal facial
expression may be noticed very early in life.9 Fifty-eight
percent of families of patients with Rett syndrome noted
unusual behavior within the first 6 months of life.8,28 What-
ever the age of onset, by 5 years of age the disease becomes
relatively static.33 The patients’ behavior resembles autism,
and they scream and babble.
Hagberg and Witt-Engerstrom divided the clinical course
of the disease into four stages. The first stage, termed the
early-onset deceleration stage, is characterized by hypotonia,
deceleration of brain growth, and lack of developmental
progress. This stage typically occurs between 6 and 18
months of age. The stage of rapid destruction occurs between
the ages of 1 and 3 years and is characterized by develop-
mental regression, loss of purposeful hand function, and
autism. The third stage, the pseudostationary stage, occurs
between 2 and 10 years of age. During this period, seizures,
ataxia, and dementia occur. Finally, the late motor deteriora-
tion stage occurs after the age of 10 years and is character-
ized by the development of scoliosis, muscle atrophy and
contractures, and upper and lower motoneuron signs.16
Autonomic dysfunction also occurs in girls with Rett
syndrome. Cardiac involvement has been documented with
prolonged QT syndrome.10,13 Depressed breathing may be
seen in girls, usually between the ages of 10 and 18 years,23
and may result in sudden death in some girls.
MRI of the brain shows a global reduction in gray and
white matter. Short fourth metatarsals and short ulnae are
e98 SECTION VI  Neuromuscular Disorders

a peculiar radiographic finding in 56% of girls.12 Other radio-
graphic findings include osteopenia (which may lead to frac-
tures)5,15,30 and scoliosis.
Orthopaedic manifestations of the disease are most com-
monly spasticity that initially affects gait, joint contractures,
and scoliosis.36 Seventy-three percent of patients with Rett
syndrome walk at some time during childhood, although
many lose the ability to ambulate over time.27 Spasticity
may lead to joint contractures, and a small group of patients
may benefit from soft tissue surgical procedures such as heel
cord lengthening.14 Coxa valga is seen in all patients.30 Hip
displacement has been documented radiographically in 48%
of teenage girls with Rett syndrome.18,37
Scoliosis occurs in 45% to 87% of patients with Rett
syndrome.17,25,27,30 The average age at onset is 8 years
(Fig. 35-95, A to C).20,29 However, scoliosis may develop in

FIGURE 35-95  A and B, Clinical appearance of a 10-year, 7-month-old girl with

scoliosis secondary to Rett syndrome. C, Radiograph obtained at 7 years, 9 months
of age. D, The curve had worsened by 10 years, 6 months of age. E and F,
Posterior spinal fusion with Luque-Galveston instrumentation was performed.

A B C

D E

F

very young children. Most curves are long and sweeping,
with the apex of the deformity generally located in the
thoracolumbar spine.14 In a smaller group of children a
more idiopathic type of curve pattern without pelvic obliq-
uity develops.35 Progression of the curve is the rule,4,17,30
and it occurs more rapidly than in idiopathic scoliosis
(Fig. 35-95, D).29
Treatment
Hip subluxation may require surgery in some patients.37
Orthotic management may delay spine surgery but does not
control progression.20,24 Spinal fusion with segmental instru-
mentation is necessary for large progressive curves (Fig.
35-95, E and F).6,24 Respiratory and gastrointestinal compli-
cations occur frequently in these girls postoperatively.11
Surgery does not generally interfere with the ability to
walk in ambulatory patients. Family surveys show that
improvement in the patients’ general condition is perceived
in 84%, seating balance is improved,25 and family perception
as documented by the Wee-FIM questionnaire shows
improved activity of daily living in this wheelchair-bound
population.7,26
References
Rett Syndrome
1. Amir RE, Sutton VR, Van den Veyver IB: Newborn screening and
prenatal diagnosis for Rett syndrome: implications for therapy,
J Child Neurol 20:779, 2005.
2. Amir RE, Van den Veyver IB, Wan M, et al: Rett syndrome is
caused by mutations in X-linked MECP2, encoding methyl-CpG-
binding protein 2, Nat Genet 23:185, 1999.
3. Anvret M, Clarke A: Genetics and Rett syndrome, Eur Child
Adolesc Psychiatry 6(Suppl 1):89, 1997.
4. Bassett GS, Tolo VT: The incidence and natural history of scoliosis
in Rett syndrome, Dev Med Child Neurol 32:963, 1990.
5. Budden SS, Gunness ME: Possible mechanisms of osteopenia in
Rett syndrome: bone histomorphometric studies, J Child Neurol
18:698, 2003.
6. Downs J, Bergman A, Carter P, et al: Guidelines for manage-
ment of scoliosis in Rett syndrome patients based on expert
consensus and clinical evidence, Spine (Phila Pa 1976) 34:E607,
2009.
7. Downs J, Young D, de Klerk N, et al: Impact of scoliosis surgery
on activities of daily living in females with Rett syndrome, J Pediatr
Orthop 29:369, 2009.
8. Einspieler C, Kerr AM, Prechtl HF: Abnormal general movements
in girls with Rett disorder: the first four months of life, Brain Dev
27(Suppl 1):S8, 2005.
9. Einspieler C, Kerr AM, Prechtl HF: Is the early development
of girls with Rett disorder really normal? Pediatr Res 57:696,
2005.
10. Ellaway CJ, Sholler G, Leonard H, et al: Prolonged QT interval in
Rett syndrome, Arch Dis Child 80:470, 1999.
11. Gabos PG, Inan M, Thacker M, et al: Spinal fusion for scoliosis in
Rett syndrome with an emphasis on early postoperative complica-
tions, Spine (Phila Pa 1976) 37:E90, 2012.
12. Glasson EJ, Bower C, Thomson MR, et al: Diagnosis of Rett syn-
drome: can a radiograph help? Dev Med Child Neurol 40:737,
1998.
13. Glaze DG: Neurophysiology of Rett syndrome, J Child Neurol
20:740, 2005.
14. Guidera KJ, Borrelli J Jr, Raney E, et al: Orthopaedic manifesta-
tions of Rett syndrome, J Pediatr Orthop 11:204, 1991.
CHAPTER 35  Disorders of the Brain e99
15. Haas RH, Dixon SD, Sartoris DJ, et al: Osteopenia in Rett syn-
drome, J Pediatr 131:771, 1997.
16. Hagberg B, Witt-Engerstrom I: Rett syndrome: a suggested staging
system for describing impairment profile with increasing age
towards adolescence, Am J Med Genet Suppl 1:47, 1986.
17. Harrison DJ, Webb PJ: Scoliosis in the Rett syndrome: natural
history and treatment, Brain Dev 12:154, 1990.
18. Hennessy MJ, Haas RH: The orthopedic management of Rett
syndrome, J Child Neurol 3(Suppl):S43, 1988.
19. Hoffbuhr K, Devaney JM, LaFleur B, et al: MeCP2 mutations
in children with and without the phenotype of Rett syndrome,
Neurology 56:1486, 2001.
20. Huang TJ, Lubicky JP, Hammerberg KW: Scoliosis in Rett syn-
drome, Orthop Rev 23:931, 1994.
21. Huppke P, Gartner J: Molecular diagnosis of Rett syndrome,
J Child Neurol 20:732, 2005.
22. Jian L, Archer HL, Ravine D, et al: p.R270X MECP2 mutation
and mortality in Rett syndrome, Eur J Hum Genet 13:1235, 2005.
23. Julu PO, Kerr AM, Apartopoulos F, et al: Characterisation of
breathing and associated central autonomic dysfunction in the Rett
disorder, Arch Dis Child 85:29, 2001.
24. Keret D, Bassett GS, Bunnell WP, et al: Scoliosis in Rett syndrome,
J Pediatr Orthop 8:138, 1988.
25. Kerr AM, Webb P, Prescott RJ, et al: Results of surgery for scoliosis
in Rett syndrome, J Child Neurol 18:703, 2003.
26. Larsson EL, Aaro S, Ahlinder P, et al: Long-term follow-up of
functioning after spinal surgery in patients with Rett syndrome,
Eur Spine J 18:506, 2009.
27. Larsson G, Lindstrom B, Engerstrom IW: Rett syndrome from a
family perspective: The Swedish Rett Center survey, Brain Dev
27(Suppl 1):S14, 2005.
28. Leonard H, Moore H, Carey M, et al: Genotype and early develop-
ment in Rett syndrome: the value of international data, Brain Dev
27(Suppl 1):S59, 2005.
29. Lidstrom J, Stokland E, Hagberg B: Scoliosis in Rett syndrome.
Clinical and biological aspects, Spine 19:1632, 1994.
30. Loder RT, Lee CL, Richards BS: Orthopedic aspects of Rett syn-
drome: a multicenter review, J Pediatr Orthop 9:557, 1989.
31. Mari F, Azimonti S, Bertani I, et al: CDKL5 belongs to the same
molecular pathway of MeCP2 and it is responsible for the early-
onset seizure variant of Rett syndrome, Hum Mol Genet 14:1935,
2005.
32. Miyamoto A, Yamamoto M, Takahashi S, et al: Classical Rett
syndrome in sisters: variability of clinical expression, Brain Dev
19:492, 1997.
33. Naidu S: Rett syndrome: natural history and underlying disease
mechanisms, Eur Child Adolesc Psychiatry 6(Suppl 1):14, 1997.
34. Renieri A, Meloni I, Longo I, et al: Rett syndrome: the complex
nature of a monogenic disease, J Mol Med 81:346, 2003.
35. Riise R, Brox JI, Sorensen R, et al: Spinal deformity and disability
in patients with Rett syndrome, Dev Med Child Neurol 53:653,
2011.
36. Roberts AP, Conner AN: Orthopaedic aspects of Rett’s syndrome:
brief report, J Bone Joint Surg Br 70:674, 1988.
37. Tay G, Graham H, Graham HK, et al: Hip displacement and
scoliosis in Rett syndrome—screening is required, Dev Med Child
Neurol 52:93, 2010.
38. Xiang F, Zhang Z, Clarke A, et al: Chromosome mapping of Rett
syndrome: a likely candidate region on the telomere of Xq, J Med
Genet 35:297, 1998.
Hereditary Spastic Paraparesis
Hereditary spastic paraparesis (HSP) is a neurodegenera-
tive condition characterized by spasticity in the lower
extremities with sparing of the upper extremities and
e100 SECTION VI  Neuromuscular Disorders
cranial nerves. It is one of the more common progressive
neurodegenerative diseases encountered in children8 and
has been seen regularly in our pediatric orthopaedic popula-
tion. It has two clinical forms, termed pure and compli-
cated.1,13 In pure HSP, spasticity is the only neurologic
finding. Dementia may occur in late adulthood.24 In the
complicated form, mental retardation, bulbar involvement,
nystagmus, and dysarthria are also present.
Pathogenesis
HSP is most frequently transmitted as an autosomal domi-
nant trait with complete penetrance. Multiple genetic loci
have been isolated. The most common mutation is in the
spastin gene (SPG4), located at the 2p locus of chromo-
some 2.5,9,17,19,23 Genetic anticipation may occur, with off-
spring of affected parents having an earlier onset of
symptoms.2,19 Paraplegin (SPG7) is a second gene impli-
cated in some patients with HSP.14 Autosomal recessive and
X-linked forms have also been described.6
Histopathologic examination reveals degeneration of the
corticospinal tract and posterior columns, as well as degen-
eration of the spinocerebellar tracts in approximately 50%.3
This can lead to subclinical sensory disturbances in patients
with HSP, which can be identified via SSEPs.4,21 The more
advanced spinal degeneration distally in the lumbar spine,
with loss of myelin sheaths, leads to a predominance
of lower extremity involvement,11 although MRI shows
atrophy of the cervical and thoracic spinal cord.22 On a
cellular level, degeneration of the distal parts of long axons
is seen.15
Clinical Features
Patients with HSP have progressive lower extremity spastic-
ity and an abnormal gait. Toe-walking is a frequent com-
plaint. Affected children may be delayed in walking, and
clinical symptoms may be present by 3 years of age.1 Other
patients may be asymptomatic until adulthood.12 HSP is
often misdiagnosed initially as CP.7,11 Patients with a family
history of CP should be suspected of having HSP, particu-
larly if the upper extremities appear to be spared.
Physical examination reveals spasticity in the legs. Deep
tendon reflexes are abnormally brisk, and the plantar
reflexes are extensor.11 Contractures, particularly of the
Achilles tendon, may result from the increased tone. Those
with the spastin gene mutation are noted to have lower
extremity hyperreflexia and increased tone; ankle clonus,
pes cavus, and bladder symptoms18; and possibly a more
severe and progressive clinical course.16
Treatment
Botulinum toxin has been injected to reduce spasticity in
the lower limbs of patients with HSP.10,20 Orthopaedic
treatment may be necessary if contractures are present and
is similar to the management of CP, although surgical out-
comes seem to be less predictable because of the progres-
sive nature of the disorder.
References
Hereditary Spastic Paraparesis
1. Appleton RE, Farrell K, Dunn HG: “Pure” and “complicated”
forms of hereditary spastic paraplegia presenting in childhood, Dev
Med Child Neurol 33:304, 1991.
2. Benson KF, Horwitz M, Wolff J, et al: CAG repeat expansion in
autosomal dominant familial spastic paraparesis: novel expansion
in a subset of patients, Hum Mol Genet 7:1779, 1998.
3. Bruyn RP: The neuropathology of hereditary spastic paraparesis,
Clin Neurol Neurosurg 94(Suppl):S16, 1992.
4. Bruyn RP, van Dijk JG, Scheltens P, et al: Clinically silent dysfunc-
tion of dorsal columns and dorsal spinocerebellar tracts in heredi-
tary spastic paraparesis, J Neurol Sci 125:206, 1994.
5. Bruyn RP, van Veen MM, Kremer H, et al: Familial spastic paraple-
gia: evidence for a fourth locus, Clin Neurol Neurosurg 99:87, 1997.
6. Cambi F, Tang XM, Cordray P, et al: Refined genetic mapping and
proteolipid protein mutation analysis in X-linked pure hereditary
spastic paraplegia, Neurology 46:1112, 1996.
7. Cooley WC, Melkonian G, Moses C, et al: Autosomal dominant
familial spastic paraplegia: description of a large New England
family and a study of management, Dev Med Child Neurol
32:1098, 1990.
8. Dyken P, Krawiecki N: Neurodegenerative diseases of infancy and
childhood, Ann Neurol 13:351, 1983.
9. Fortini D, Cricchi F, Di Fabio R, et al: Current insights into familial
spastic paraparesis: new advances in an old disease, Funct Neurol
18:43, 2003.
10. Geva-Dayan K, Domenievitz D, Zahalka R, et al: Botulinum toxin
injections for pediatric patients with hereditary spastic paraparesis,
J Child Neurol 25:969, 2010.
11. Gordon N: Hereditary spastic paraplegia. A diagnostic reminder,
Dev Med Child Neurol 35:452, 1993.
12. Harding AE: Hereditary pure spastic paraplegia: a clinical and
genetic study of 22 families, J Neurol Neurosurg Psychiatry
44:871, 1981.
13. Harding AE: Classification of the hereditary ataxias and paraple-
gias, Lancet 1:1151, 1983.
14. McDermott CJ, Dayaratne RK, Tomkins J, et al: Paraplegin gene
analysis in hereditary spastic paraparesis (HSP) pedigrees in north-
east England, Neurology 56:467, 2001.
15. McDermott CJ, Grierson AJ, Wood JD, et al: Hereditary spastic
paraparesis: disrupted intracellular transport associated with
spastin mutation, Ann Neurol 54:748, 2003.
16. McMonagle P, Byrne PC, Fitzgerald B, et al: Phenotype of AD-HSP
due to mutations in the SPAST gene: comparison with AD-HSP
without mutations, Neurology 55:1794, 2000.
17. Nance MA, Raabe WA, Midani H, et al: Clinical heterogeneity of
familial spastic paraplegia linked to chromosome 2p21, Hum
Hered 48:169, 1998.
18. Nicholas AP, O’Hearn E, Holmes SE, et al: Clinical signs and
symptoms in a large hereditary spastic paraparesis pedigree with a
novel spastin mutation, Mov Disord 19:641, 2004.
19. Raskind WH, Pericak-Vance MA, Lennon F, et al: Familial spastic
paraparesis: evaluation of locus heterogeneity, anticipation, and
haplotype mapping of the SPG4 locus on the short arm of chromo-
some 2, Am J Med Genet 74:26, 1997.
20. Rousseaux M, Launay MJ, Kozlowski O, et al: Botulinum toxin
injection in patients with hereditary spastic paraparesis, Eur J
Neurol 14:206, 2007.
21. Schady W, Sheard A: A quantitative study of sensory function in
hereditary spastic paraplegia, Brain 113:709, 1990.
22. Sperfeld AD, Baumgartner A, Kassubek J: Magnetic resonance
investigation of the upper spinal cord in pure and complicated
hereditary spastic paraparesis, Eur Neurol 54:181, 2005.
23. van Deutekom JC, Bruyn RP, van den Boorn N, et al: Pure heredi-
tary spastic paraparesis: an exclusion map covering more than 40%
of the autosomal genome, Hum Genet 93:408, 1994.

24. Webb S, Coleman D, Byrne P, et al: Autosomal dominant heredi-
tary spastic paraparesis with cognitive loss linked to chromosome
2p, Brain 121:601, 1998.
Ataxia Syndromes
Friedreich Ataxia (Hereditary
Spinocerebellar Ataxia)
Pathogenesis
Friedreich ataxia, first described in 1863,13 is the most
common of the hereditary ataxias and occurs in approxi-
mately 1 in 50,000 live births.14 The disease is transmitted
by autosomal recessive inheritance. The genetic defect
was discovered in 1996 and is characterized by large triplet
repeat expansions in the area of chromosome 9 responsible
for encoding the protein frataxin.6,32 The frataxin gene
normally has up to 33 triplets, but patients with Fried-
reich ataxia have 67 to 1000 or more such triplets.27
Frataxin is a mitochondrial protein that plays a critical
role in iron homeostasis.19 Deficiencies of frataxin lead
to iron deposits in mitochondria, enhanced sensitivity to
oxidative stress, and eventual cell death from free radi-
cals.1,31,36 The clinical severity of the disease is linked to
the size of the triplet repeat.10,20,25 In some families,
affected persons may experience a milder form of Fried-
reich ataxia. Prenatal diagnosis of the disease is available.
In a less common variant of Friedreich ataxia, deep tendon
reflexes are preserved. The mutation in these patients is
also in the frataxin gene.30
In Friedreich ataxia both the cerebellar and the spinal
cord pathways are involved. In the cerebellum, atrophy of
Purkinje cells and the dentate nuclei is seen. Changes may
also occur in the brainstem. Degeneration of the corticospi-
nal tract may occasionally occur above the level of the
medulla and involve the cerebral cortex. In the spinal cord,
degenerative changes are present in the dorsal and ventral
spinocerebellar tracts, the corticospinal tracts, and the pos-
terior column. The anterior horns are usually normal.
Clinical Features
A triad of clinical signs and symptoms are classically associ-
ated with the disease: ataxia, which is normally the initial
symptom; areflexia of the ankles and knees; and an extensor
Babinski response.35 The onset of symptoms generally
occurs in childhood between 7 and 15 years of age,15 with
an average age of 12 years at diagnosis.12 The onset is often
insidious, thus making it difficult to precisely pinpoint when
the condition was first manifested.
An unsteady gait is almost always the first symptom. The
child has a tendency to stagger and fall and has difficulty
making sudden turns. The unsteady gait is more pronounced
when the child attempts to walk in the dark. Over a period
of years the symptoms progress and ataxia of the upper
limbs develops. The patient is not usually able to perform
heel-to-toe walking. Stance is unsteady, and the Romberg
sign is positive. The patient may demonstrate heel-to-shin
ataxia and, later, finger-to-nose ataxia. Rapid alternating
movements of the hands become more difficult for the
patient to perform.
CHAPTER 35  Disorders of the Brain e101
Deep tendon reflexes are generally absent very early in
the course of the disease, with areflexia being one of the
hallmarks of Friedreich ataxia. The Babinski reflex becomes
extensor. On sensory examination, position and vibration
sense and two-point discrimination are lost. Later, as the
disease progresses, the patient’s speech becomes slurred,
and dysphagia may become a serious problem.28 Rotatory or
horizontal nystagmus develops, and head tremor may be
noted. Muscle weakness occurs symmetrically and is first
apparent in proximal muscles, such as the hip extensors.23
Weakness initially occurs in the lower extremities and then
progresses to the upper extremities.4 Spasticity has been
seen in some patients with documented Friedreich ataxia
and should be considered a rare feature in the clinical spec-
trum of the disease.3
Certain orthopaedic deformities are characteristic of
Friedreich ataxia. The most common is scoliosis, which
occurs in 63% to 100% of patients.16,21,26 The curves are
most often located in the thoracic or thoracolumbar area
and more closely resemble idiopathic curves than the long,
sweeping neuromuscular curve patterns with associated
pelvic obliquity.2,7,21 Approximately two thirds of patients
with scoliosis will have coexisting increased kyphosis.7,21
Cavus deformity of the feet may be the initial symptom in
some patients. Early in the disease the cavus is flexible, but
as the disease progresses, the cavus becomes associated with
varus and loses flexibility. Muscle imbalance, specifically
peroneal muscle weakness, has been documented by Makin
in most patients with cavus feet secondary to Friedreich
ataxia.23
Diabetes mellitus has been seen in conjunction with the
disease in approximately a fourth of patients.11,35 Cardiomy-
opathy develops in patients with Friedreich ataxia, and
eventual cardiac failure leads to a diminished quality and
length of life.
Diagnosis
The presence of ataxia, scoliosis, and pes cavus, along with
a positive family history, leads to suspicion for Friedreich
ataxia. Definitive diagnosis is made by molecular genetic
testing for the frataxin gene triplet repeat expansion,
which can be documented in 98% of patients with Fried-
reich ataxia.29 All patients with ataxia in childhood or
adolescence should be screened for Friedreich ataxia
because the genetic test is relatively simple.37 Though no
longer required in this era of genetic testing, muscle biopsy
shows denervation atrophy of both small and large muscle
fiber groups. Creatine phosphokinase levels are normal.
Spinal tap reveals normal cerebrospinal fluid. Electrocar-
diographic findings include conduction defects with bundle
branch block or complete heart block and T-wave inver-
sion. Ventricular thickening is notable on echocardiogra-
phy.33 EMG shows loss of motor units and an increase in
polyphasic potentials. Nerve conduction studies demon-
strate only a slight decrease in motor fiber conduction
velocity but a marked decrease in sensory action potential,
unlike the case in the hereditary motor sensory neuropa-
thies (e.g., Charcot-Marie-Tooth disease), in which motor
conduction velocity is significantly diminished. MRI of the
spinal cord shows a decrease in the anteroposterior diam-
eter of the cord and changes in the posterior and lateral
columns.24
e102 SECTION VI  Neuromuscular Disorders
Treatment
No definitive treatment is currently available for patients
with Friedreich ataxia.
Orthopaedic Treatment
Orthopaedic treatment includes correction of cavus foot
deformity (see Chapter 23). Orthoses can help support a
flexible foot deformity, and the role of Botox in this disease
has been discussed in case reports but not studied longitu-
dinally.8 Surgical management of symptomatic pes cavus can
prolong ambulation in some patients. In a series of 34
patients, Makin reported improvement in ataxia after
surgery.23 Surgery usually consists of plantar fascia release,
Achilles tendon lengthening, posterior tibialis tendon
surgery (lengthening versus transfer), or triple arthrodesis.35
One study found that adult patients who underwent Achil-
les tendon lengthening, posterior tibialis tendon transfer to
the peroneus brevis, and plantar fascia releases as needed
resumed the ability to perform a standing transfer into their
wheelchairs because of improved foot stability. This pro-
vided them with an added measure of independence in
performing their own transfers.8
Progression of scoliotic curves has been linked to an
onset of ataxia at 10 years or younger and an onset of sco-
liosis at 15 years or younger.21 Bracing rarely prevents
progression of scoliosis in patients with Friedreich ataxia.5
In addition, bracing is poorly tolerated by patients and
usually interferes with their ability to walk. Scoliosis is
A B
FIGURE 35-96  A, Clinical appearance of a 14-year-old boy with scoliosis secondary to Friedreich ataxia. Because of poor balance
he needed his father’s assistance to stand for the photograph. B, Preoperative radiograph showing severe scoliosis and trunk
decompensation. C, Radiograph obtained 6 months after posterior spinal instrumentation with Texas Scottish Rite Hospital
instrumentation. Trunk balance has been improved.
generally progressive, but if a curvature stabilizes with a
Cobb angle of less than 40 degrees, progression after skel-
etal maturity rarely occurs. Posterior spinal fusion with
instrumentation is the treatment of choice for curves 60
degrees or greater in magnitude (Fig. 35-96).7,18 Spinal
fusion should span the thoracic and lumbar spine34 because
fusing short has led to further progression of the curve.
Intraoperative neuromonitoring with SSEPs is usually
impossible because of the underlying neuropathy, so a
wake-up test should be anticipated.26
Medical Treatment
Recent research has focused on the use of antioxidants as
treatment of Friedreich ataxia. Idebenone, a free radical
scavenger, has been shown to benefit patients with cardio-
myopathy from Friedreich ataxia.5,9,17 Medical trials of
vitamin E and coenzyme Q have also shown some benefit
in cardiac status.22
Prognosis
The clinical course of classic Friedreich ataxia is slow but
relentless progression. The earlier the onset of disease, the
poorer the outcome. The age at onset and the rate of pro-
gression are usually similar in affected siblings. By 20 years
of age the ataxia is severe, and by the second or third
decade of life the patient generally requires a wheelchair.
The average age at which patients were unable to walk was
26 years (±7.8 years) in a large Italian series12 and 20 years
in a pediatric orthopaedic center.7 The average duration of
C

the disease from onset until death is 25 years. Death from
hypertrophic cardiomyopathy or pneumonia usually occurs
by 38 years (range, 21 to 69 years).16
References
Ataxia Syndromes
1. Alper G, Narayanan V: Friedreich’s ataxia, Pediatr Neurol 28:335,
2003.
2. Aronsson DD, Stokes IA, Ronchetti PJ, et al: Comparison of curve
shape between children with cerebral palsy, Friedreich’s ataxia,
and adolescent idiopathic scoliosis, Dev Med Child Neurol 36:412,
1994.
3. Badhwar A, Jansen A, Andermann F, et al: Striking intrafamilial
phenotypic variability and spastic paraplegia in the presence of
similar homozygous expansions of the FRDA1 gene, Mov Disord
19:1424, 2004.
4. Beauchamp M, Labelle H, Duhaime M, et al: Natural history of
muscle weakness in Friedreich’s ataxia and its relation to loss of
ambulation, Clin Orthop Relat Res 311:270, 1995.
5. Buyse G, Mertens L, Di Salvo G, et al: Idebenone treatment in
Friedreich’s ataxia: neurological, cardiac, and biochemical monitor-
ing, Neurology 60:1679, 2003.
6. Chamberlain S, Shaw J, Rowland A, et al: Mapping of mutation
causing Friedreich’s ataxia to human chromosome 9, Nature
334:248, 1988.
7. Daher YH, Lonstein JE, Winter RB, et al: Spinal deformities in
patients with Friedreich ataxia: a review of 19 patients, J Pediatr
Orthop 5:553, 1985.
8. Delatycki MB, Holian A, Corben L, et al: Surgery for equinovarus
deformity in Friedreich’s ataxia improves mobility and indepen-
dence, Clin Orthop Relat Res 430:138, 2005.
9. Di Prospero NA, Baker A, Jeffries N, et al: Neurological effects of
high-dose idebenone in patients with Friedreich’s ataxia: a ran-
domised, placebo-controlled trial, Lancet Neurol 6:878, 2007.
10. Durr A, Cossee M, Agid Y, et al: Clinical and genetic abnormalities
in patients with Friedreich’s ataxia, N Engl J Med 335:1169, 1996.
11. Fantus IG, Janjua N, Senni H, et al: Glucose intolerance in first-
degree relatives of patients with Friedreich’s ataxia is associated
with insulin resistance: evidence for a closely linked inherited trait,
Metabolism 40:788, 1991.
12. Filla A, DeMichele G, Caruso G, et al: Genetic data and natural
history of Friedreich’s disease: a study of 80 Italian patients,
J Neurol 237:345, 1990.
13. Friedreich N: Uber degenerative Atrophie der spinalen Hinter-
strange, Virchows Arch Pathol Anat 26:391, 1863.
14. Fujita R, Hanauer A, Vincent A, et al: Physical mapping of two
loci (D9S5 and D9S15) tightly linked to Friedreich ataxia locus
(FRDA) and identification of nearby CpG islands by pulse-field
gel electrophoresis, Genomics 10:915, 1991.
15. Geoffroy G, Barbeau A, Breton G, et al: Clinical description
and roentgenologic evaluation of patients with Friedreich’s ataxia,
Can J Neurol Sci 3:279, 1976.
16. Harding AE: Friedreich’s ataxia: a clinical and genetic study of
90 families with an analysis of early diagnostic criteria and intra-
familial clustering of clinical features, Brain 104:589, 1981.
CHAPTER 35  Disorders of the Brain e103
17. Hausse AO, Aggoun Y, Bonnet D, et al: Idebenone and
reduced cardiac hypertrophy in Friedreich’s ataxia, Heart 87:346,
2002.
18. Hensinger RN, MacEwen GD: Spinal deformity associated with
heritable neurological conditions: spinal muscular atrophy, Fried-
reich’s ataxia, familial dysautonomia, and Charcot-Marie-Tooth
disease, J Bone Joint Surg Am 58:13, 1976.
19. Isaya G, O’Neill HA, Gakh O, et al: Functional studies of frataxin,
Acta Paediatr Suppl 93:68; discussion 72, 2004.
20. Isnard R, Kalotka H, Durr A, et al: Correlation between left
ventricular hypertrophy and GAA trinucleotide repeat length in
Friedreich’s ataxia, Circulation 95:2247, 1997.
21. Labelle H, Tohme S, Duhaime M, et al: Natural history of scoliosis
in Friedreich’s ataxia, J Bone Joint Surg Am 68:564, 1986.
22. Lodi R, Hart PE, Rajagopalan B, et al: Antioxidant treatment
improves in vivo cardiac and skeletal muscle bioenergetics in
patients with Friedreich’s ataxia, Ann Neurol 49:590, 2001.
23. Makin M: The surgical management of Friedreich’s ataxia, J Bone
Joint Surg Am 35:425, 1953.
24. Mascalchi M, Salvi F, Piacentini S, et al: Friedreich’s ataxia: MR
findings involving the cervical portion of the spinal cord, AJR Am
J Roentgenol 163:187, 1994.
25. Mateo I, Llorca J, Volpini V, et al: Expanded GAA repeats and
clinical variation in Friedreich’s ataxia, Acta Neurol Scand 109:75,
2004.
26. Milbrandt TA, Kunes JR, Karol LA: Friedreich’s ataxia and scolio-
sis: the experience at two institutions, J Pediatr Orthop 28:234,
2008.
27. Montermini L, Andermann E, Labuda M, et al: The Friedreich
ataxia GAA triplet repeat: premutation and normal alleles, Hum
Mol Genet 6:1261, 1997.
28. Nilsson H, Ekberg O, Olsson R, et al: Swallowing in hereditary
sensory ataxia, Dysphagia 11:140, 1996.
29. Palau F: Friedreich’s ataxia and frataxin: molecular genetics, evolu-
tion and pathogenesis (Review), Int J Mol Med 7:581, 2001.
30. Pandolfo M: Friedreich’s ataxia: clinical aspects and pathogenesis,
Semin Neurol 19:311, 1999.
31. Pandolfo M: Friedreich ataxia, Semin Pediatr Neurol 10:163, 2003.
32. Priller J, Scherzer CR, Faber PW, et al: Frataxin gene of Fried-
reich’s ataxia is targeted to mitochondria, Ann Neurol 42:265,
1997.
33. Salih MA, Ahlsten G, Stalberg E, et al: Friedreich’s ataxia in 13
children: presentation and evolution with neurophysiologic, elec-
trocardiographic, and echocardiographic features, J Child Neurol
5:321, 1990.
34. Shapiro F, Bresnan MJ: Orthopaedic management of childhood
neuromuscular disease. Part I: spinal muscular atrophy, J Bone Joint
Surg Am 64:785, 1982.
35. Shapiro F, Specht L: The diagnosis and orthopaedic treatment of
childhood spinal muscular atrophy, peripheral neuropathy, Fried-
reich ataxia, and arthrogryposis, J Bone Joint Surg Am 75:1699,
1993.
36. Tozzi G, Nuccetelli M, Lo Bello M, et al: Antioxidant enzymes in
blood of patients with Friedreich’s ataxia, Arch Dis Child 86:376,
2002.
37. Wood NW: Diagnosing Friedreich’s ataxia, Arch Dis Child 78:204,
1998.
e104 SECTION VI  Neuromuscular Disorders

Plate 35-1  Percutaneous Achilles Tendon Lengthening

A B C

A, The two levels of lengthening are planned. The proximal level should be distal
to the musculotendinous junction. The distal level should be close to the insertion
into the calcaneus. The distance between the two cuts varies with the severity of
the contracture. The knife is inserted through a vertical stab incision into the
tendon.
B, The scalpel is then rotated so that slightly more than half the tendon is tran-
sected laterally at the proximal site and medially at the distal site.
C, The ankle is then dorsiflexed with gentle pressure until the desired degree of
dorsiflexion is obtained. As the tendon lengthens, a “crackling” sound can be
heard. If the tendon lengthens suddenly under force, a louder “pop” is heard. The
surgeon should squeeze the calf and watch for plantar flexion of the ankle to
ensure continuity of the tendon.
D, A short-leg cast and knee immobilizer are then applied.

D
 CHAPTER 35  Disorders of the Brain e105

Plate 35-2  Split Anterior Tibialis Tendon Transfer

Tibialis
anterior B
tendon

Cuboid
bone

A, A skin incision is made over the insertion of the anterior B, A longitudinal split is made in the tendon.
tibialis at the base of the first metatarsal. C, The lateral half of the tendon is detached.

Continued on following page

e106 SECTION VI  Neuromuscular Disorders
Plate 35-2  Split Anterior Tibialis Tendon Transfer, cont’d
D E
D, A stitch is woven into the detached tendon and the
split is propagated proximally.
E, A second incision is made over the tibialis anterior just
proximal to the extensor retinaculum. With a tendon
passer, the split tendon is then delivered on its suture into
the proximal wound. A third incision is made over the
dorsum of the cuboid.
G 5°-10°
F, A trephine is used to create a bony tunnel in the cuboid.
G, With the foot held in neutral position, the tendon is
transferred into the cuboid and the suture is passed on
Keith needles out the sole of the foot. The suture is then
tied over felt and a button with tension.
 CHAPTER 35  Disorders of the Brain e107

Plate 35-3  Extraarticular Arthrodesis of the Subtalar Joint (Grice Procedure)

Incision

Fat in sinus tarsi

Lines of incision
to excise fat pad

Cruciate ligament

CAUTION: Do not open

articular capsules
Peroneal tendon
Extensor digitorum brevis muscle
B

Curet excising fat

from sinus tarsi

A, A 2 12 -inch-long, slightly curved incision is made over
the subtalar joint, centered over the sinus tarsi.
B, The incision is carried down to the sinus tarsi. The
capsules of the posterior and anterior subtalar articulations
are identified and left intact. The operation is extraarticu-
lar. If the capsule is inadvertently opened, it should be
closed with interrupted sutures.
The periosteum on the talus corresponding to the
lateral margin of the roof of the sinus tarsi is divided and
reflected proximally. The fibrofatty tissue in the sinus tarsi
and the tendinous origin of the short toe extensors from
the calcaneus are elevated and reflected distally in one
mass.
C, The remaining fatty and ligamentous tissue from the
sinus tarsi is thoroughly removed with a sharp scalpel
and curet.

Continued on following page

e108 SECTION VI  Neuromuscular Disorders
Plate 35-3  Extraarticular Arthrodesis of the Subtalar Joint (Grice Procedure), cont’d
Osteotome measuring length
of graft to be used
Sinus tarsi
D E
D, Next, the foot is manipulated into equinus position and
inversion while rotating the calcaneus into its normal posi-
tion beneath the talus and correcting the valgus deformity.
Broad straight osteotomes of various size ( 3 4 to 11 4 inches
or more) are inserted into the sinus tarsi to block the sub-
talar joint and determine the length and optimal position of
the bone graft and the stability that it will provide. The long
axis of the graft should be parallel to the long axis of the
leg when the ankle is dorsiflexed into neutral position.
Bone graft bed
on inferior surface
of talus
Bone graft bed on superior
surface of calcaneus
E, The optimal site of the bone graft bed is marked with a
broad osteotome. A thin layer of cortical bone ( 18 to 316
inch) is removed with a dental osteotome from the inferior
surface of the talus (the roof of the sinus tarsi) and the
superior surface of the calcaneus (the floor of the sinus
tarsi) at the site marked for the bone graft. It is best to
preserve the most lateral cortical margin of the graft bed to
support the bone block and prevent it from sinking into soft
cancellous bone.

Shaped fibular graft
F, A bone graft of appropriate size can be taken from the
fibula or iliac crest. The corners of the base of the graft are
removed with a rongeur so that the graft is trapezoidal in
shape and can be countersunk into cancellous bone to
prevent lateral displacement after surgery.
The bone graft is placed in the prepared graft bed in the
sinus tarsi by holding the foot in varus position. An impactor
may be used to fix the cortices of the graft in place. The
longitudinal axis of the graft should be parallel to the shaft
of the tibia with the ankle in neutral position.
With the foot held in the desired position, the distal soft
tissue pedicle of fibrofatty tissue of the sinus tarsi, the
CHAPTER 35  Disorders of the Brain e109
Longitudinal axis of
graft placed parallel
to shaft of tibia
calcaneal periosteum, and the tendinous origin of the short
toe extensors are sutured to the reflected periosteum from
the talus. The subcutaneous tissue and skin are closed with
interrupted sutures, and a below-knee cast is applied.
Postoperative Care
The cast is removed 8 to 10 weeks after surgery. If radio-
graphs show solid healing of the graft, gradual weight
bearing is allowed with the protection of crutches. Active
and passive exercises are performed to strengthen the
muscles and increase range of motion of the ankle and knee.
e110 SECTION VI  Neuromuscular Disorders

Plate 35-4  Lateral Column Lengthening

Peroneus brevis muscle

Peroneus longus muscle

Sural nerve

A, The calcaneus is approached laterally through a longi- B, The peroneal tendons are retracted plantarward and the
tudinal incision. neck of the calcaneus is exposed. The calcaneocuboid joint
is identified but left undisturbed.
 CHAPTER 35  Disorders of the Brain e111

C, A vertical osteotomy is made in the neck of the calca- D, A tricortical wedge of iliac crest is placed in the
neus and hinged open laterally with osteotomes. A lamina osteotomy. The osteotomy may be stabilized with
spreader should not be used because it will crush the bony K-wires or a staple.
fragments.
e112 SECTION VI  Neuromuscular Disorders

Plate 35-5  Hamstring Lengthening

A, The hamstrings are approached

through two longitudinal incisions. The
medial incision is placed over the gracilis
tendon and the lateral incision is placed
lateral to the biceps femoris to protect
the peroneal nerve.
B, All three medial hamstrings are first
identified. After this step the gracilis
tendon may be divided or lengthened.
The aponeurosis of the semimembrano-
sus is cut while the underlying muscle
fibers are left in continuity. Usually, two
cuts in the aponeurosis spaced approxi-
mately 1.5 to 2.0 cm apart are required.
By gently extending the patient’s knee
• Gracilis muscle divided and flexing the hip, the surgeon can
A perform a sliding lengthening.
B • Fractional lengthening
of semimembranosus muscle C, The semitendinosus tendon is length-
ened with a Z-plasty and repaired.
D, The biceps femoris is identified and
the peroneal nerve protected because it
lies directly medial and deep to the
tendon. An intramuscular lengthening
procedure is performed by incising just
the tendinous portion of the biceps
while leaving the muscular fibers in con-
tinuity, as was done for the semimem-
branosus lengthening. Again, the hip is
flexed and the knee extended to achieve
Z-plasty of
semitendinosus
a sliding lengthening.
C muscle E, The patient is then placed either in a
knee immobilizer or in a long-leg cast
with a straight knee. When other tendon
or bone surgery is performed simultane-
ously, the mode of immobilization may
vary. Early mobilization and weight
bearing are encouraged.

Fractional lengthening
of biceps femoris muscle

D
E

Plate 35-6 (Video 35-2)  Rectus Femoris Transfer
A B
A, The incision may be either a horizontal incision two
fingerbreadths proximal to the proximal pole of the patella
or a vertical incision. The conjoined quadriceps tendon is
isolated and the rectus femoris component is identified.
The rectus tendon is separated from the tendinous por-
tions of the vastus medialis and lateralis.
CHAPTER 35  Disorders of the Brain e113
B, The undersurface of the rectus must be carefully sepa-
rated from the intermedius. This step is most easily done
proximally and extended by following the plane to the
insertion on the patella. The rectus tendon can then be
sharply released from the patella.
C, A strong suture is woven into the rectus tendon to be
used in the transfer.
Continued on following page
e114 SECTION VI  Neuromuscular Disorders
Plate 35-6 (Video 35-2)  Rectus Femoris Transfer, cont’d
D E
D, A medial posterior longitudinal incision is made and
the gracilis tendon is isolated. The rectus is mobilized and
transferred back into the posterior wound by grasping the
suture. The tendon is then routed subcutaneously. The
distal end of the rectus tendon is inserted through the
tendon selected for the site of transfer and sutured back
onto itself. The gracilis is a popular site for the transfer,
but use of the sartorius and biceps femoris has also been
described.
E, The vastus medialis and lateralis may be repaired to
each other to re-create the quadriceps tendon. The patient
can be immobilized either in a long-leg cast or in a knee
immobilizer.
 CHAPTER 35  Disorders of the Brain e115

Plate 35-7  Adductor Contracture Release

Adductor
brevis muscle
Adductor
longus muscle
Adductor
magnus muscle

Cut adductor
longus tendon
Adductor
longus tendon
A B

Adductor
brevis muscle

Adductor
longus tendon

C Cut adductor brevis tendon

Keep obturator branches intact

A, A transverse incision is made in the groin crease and
centered over the adductor longus tendon, which is easily
palpated.
B, The adductor longus tendon is identified, isolated
from the deeper adductor brevis, and divided with
electrocautery.
C, The adductor brevis is then divided in part with elec-
trocautery. Care is taken to identify the anterior branch
of the obturator nerve, which should be preserved. The
posterior branch of the obturator nerve, which lies deep
to the adductor brevis, should likewise be preserved.

Continued on following page

e116 SECTION VI  Neuromuscular Disorders

Plate 35-7  Adductor Contracture Release, cont’d

Cut Sart.
gracilis Rect. fem.
muscle A.L.

Gr. Pect.
V.i. TFL
A.b. Vastus
I-p lateral.
A.m.
Femur
D O.e.
Ischium Quad. fem.
E
H.
S.N.

G. max

Fractional
lengthening
of iliopsoas muscle

D, Just posterior to the adductor brevis and more super-
ficial, the gracilis is identified. This flat, broad muscle is
released from its origin with electrocautery.
E, If concomitant release of the iliopsoas is performed in
a nonambulatory child, its tendinous insertion on the
lesser trochanter can be palpated deep to adductor brevis.
F, Fractional lengthening of the psoas tendon can be per-
formed at this level, as illustrated, or preferably more
proximally at the pelvic brim.
G, Immobilization consists of two long-leg casts with a
removable abduction bar. The bar can be removed for
range-of-motion exercises and transport but should be
used most of the day for 3 to 4 weeks. The hip flexion
contracture release is best treated by placing the child in
the prone position at frequent intervals.
 CHAPTER 35  Disorders of the Brain e117

Plate 35-8  Proximal Hamstring Release

A, A transverse incision is made just distal to

the groin crease and centered over the graci-
lis origin, just posterior to the adductor
longus. When a proximal hamstring release
is performed in conjunction with an adduc-
tor release, the surgeon simply extends the
adductor incision more posteriorly.
B, The gracilis is divided close to its origin
with electrocautery.
C, The semimembranosus, semitendinosus,
and biceps femoris are found posterior to the
gracilis. Their common origin from the
Vastus medialis ischium should be verified by direct vision.
muscle Semitendinosus muscle
The sciatic nerve lies just posterolateral, so
Semimembranosus muscle
Sartorius muscle it is necessary to see the hamstring origins.
Adductor magnus muscle A nerve stimulator can be used to make
Adductor longus
muscle Gracilis muscle certain that the hamstrings are not the sciatic
nerve. The semimembranosus, semitendino-
sus, and biceps are then released from the
ischium with electrocautery.

Semitendinosus
muscle
Semimembranosus
muscle
Biceps femoris
muscle

Sciatic nerve

Continued on following page

e118 SECTION VI  Neuromuscular Disorders

Plate 35-8  Proximal Hamstring Release, cont’d

D, The knee is subsequently extended with the hips in a wheelchair in these casts can maintain correction of
flexed. Postoperatively, the patient can be placed in the hip extension contracture.
straight-knee long-leg casts or orthoses for 3 weeks. Sitting
 CHAPTER 35  Disorders of the Brain e119

Plate 35-9  Shelf Acetabular Augmentation

Anterior
Ilium superior
iliac spine 1 cm
5/32”
diameter depth
Tensor fasciae
latae muscle

Gluteus
medius Rectus
muscle femoris
muscle

Capsule

Vastus
lateralis
muscle

Rect

A, The patient is positioned supine with a bump beneath
the affected hip. Through an anterior approach, the outer
table of the ilium is exposed down to the hip capsule. The
rectus femoris is detached and tagged. After verifying the
position with fluoroscopy, the surgeon uses a drill to
outline the shelf just superior to the acetabular rim along
the lateral aspect of the hip.
B, The drill is inserted approximately 1 cm just above the
capsule.

Continued on following page

e120 SECTION VI  Neuromuscular Disorders

Plate 35-9  Shelf Acetabular Augmentation, cont’d

Rectus femoris
muscle sewn
over bone
grafts

Harvesting
bone graft

Creating Morcellized bone

trough
2 layers of bone strips

C Fibrous capsule

C, A rongeur is used to connect the holes to create a
trough for bone graft. Strips of corticocancellous and can-
cellous graft are obtained from the iliac wing. The graft is
placed in the trough and over the hip capsule to form an
awning covering the femoral head.
D, The strips are placed at 90-degree angles in layers, and
morcellized bone graft is extended up the iliac wing.
E, The rectus femoris is repaired over the shelf and a spica
cast applied.
 CHAPTER 35  Disorders of the Brain e121

Plate 35-10  Dega Osteotomy

External
oblique muscle

Tensor
fasciae
latae
muscle
Sartorius
muscle

Strip inner and outer

Capsule surfaces of pelvis to
access sciatic notch
C

A, The patient is positioned supine with the affected hip
raised on a bump. An anterior incision is made over the
iliac crest. The Dega osteotomy is usually performed
during the same surgical setting as a varus derotation oste-
otomy and will be illustrated as such.
B and C, The iliac apophysis is split and the inner and
outer tables are exposed subperiosteally to the sciatic
notch. The direct head of the rectus femoris is detached.

Continued on following page

e122 SECTION VI  Neuromuscular Disorders
Plate 35-10  Dega Osteotomy, cont’d
Retractors in
sciatic notch
90°-100°
E
D, Blunt Hohmann retractors are placed in the sciatic
notch. The osteotomy is drawn on the pelvis at the level
of the anterior inferior iliac spine and extended back to
the sciatic notch.
E, Osteotomes are then inserted from the outer table of
the ilium down to the triradiate cartilage. The inner table
is preserved. The anterior inferior iliac spine is cut with
the osteotome, and the sciatic notch is incised with a Ker-
rison rongeur. The acetabulum is pried inferiorly and later-
ally with osteotomes. If a lamina spreader is used, great
Insert bone
graft wedges
care should be taken so that the bony surfaces are not
crushed.
F, Tricortical wedges of iliac crest are harvested and
stacked in the opening wedge of the osteotomy. The graft
can be preferentially positioned to improve coverage more
anteriorly, posteriorly, or just laterally. If the inner table
remains intact, the osteotomy does not require fixation.
Ranging the hip under visualization is recommended to
verify that the osteotomy is stable. A spica cast is then
used for 6 weeks to allow healing of the osteotomy.
 CHAPTER 35  Disorders of the Brain e123

Plate 35-11  Extensor Carpi Ulnaris–Extensor Carpi Radialis Brevis Transfer

Palmaris longus muscle

Flexor digitorum
superficialis muscle

Line of incision for

access to extensor
carpi ulnaris tendon Ulnar artery

Ulnar nerve

A Flexor carpi ulnaris muscle

cut and lengthened

Extensor pollicis
brevis muscle
Abductor pollicis Extensor indicis
Retrieve extensor longus muscle muscle
carpi ulnaris
tendon here

Transect extensor carpi

ulnaris tendon distal to
Extensor digitorum ulnar styloid
communis muscle

Fasciotomy proximally
B over muscle

A, Lengthening of the flexor carpi ulnaris tendon is done
at the musculotendinous level in the distal part of the
forearm. Lengthening of the other wrist flexors can be
accomplished through the same incision if needed.
B, The incision to expose the extensor carpi ulnaris tendon
is made just distal to the ulnar styloid. The extensor carpi
ulnaris tendon is then retrieved into the proximal incision
and transferred subcutaneously to the dorsoradial wrist
incision.

Continued on following page

e124 SECTION VI  Neuromuscular Disorders

Plate 35-11  Extensor Carpi Ulnaris–Extensor Carpi Radialis Brevis Transfer, cont’d

Extensor pollicis
longus muscle and
abductor
Extensor carpi pollicis longus
radialis longus muscle retracted
muscle

Extensor carpi ulnaris tendon

Extensor carpi
radialis brevis muscle

Extensor retinaculum

Extensor digitorum communis

muscle

Extensor
indicis muscle Extensor digiti minimi
muscle

ECRB ECRB
U
EC

C, The tendon transfer is secured with a weave technique. pass of the donor tendon through the recipient tendon to
The first suture is placed proximal to the site of the first prevent proximal migration of the tendon placement.
 CHAPTER 35  Disorders of the Brain e125

Plate 35-12  Fractional Lengthening of the Finger and Wrist Flexors in the Forearm Operative Technique

DO NOT INJURE
Ulnar nerve Flexor digitorum
and vessels sublimis muscle

DO NOT INJURE
Radial nerve
Flexor and vessels
carpi
ulnaris Palmaris
muscle longus muscle
Flexor carpi
radialis muscle
Brachioradialis
muscle

Pronator teres
muscle

Lines of incision in the tendinous fibers

DO NOT DISTURB underlying muscle tissue

A B
A, A midline longitudinal incision is made in the middle
three fourths of the volar surface of the forearm. The
subcutaneous tissue and deep fascia are divided in line
with the skin incision. The wound flaps are undermined,
elevated, and retracted with four-prong rake retractors to
expose the superficial groups of muscles. On the radial
side of the flexor carpi ulnaris tendon, the ulnar vessels
and nerves are identified and protected from injury; simi-
larly, on the radial side of the flexor carpi radialis tendon,
the radial vessels and nerve are isolated to protect them
from inadvertent damage. Sliding lengthening of the flexor
Separation of tendinous parts on extension
of wrist and digits
carpi radialis and flexor carpi ulnaris muscles is performed
at the musculotendinous junction by making two incisions
in their tendinous fibers, about 1.5 cm apart, without dis-
turbing the underlying muscle tissue. The proximal inci-
sion is transverse and the distal one is oblique. The palmaris
longus and flexor digitorum muscles are lengthened by
only one transverse incision in each.
B, The wrist and the fingers are passively hyperextended.
The tendinous parts will separate, whereas the intact
underlying muscle fibers will maintain continuity of the
muscles.

Continued on following page

e126 SECTION VI  Neuromuscular Disorders
Plate 35-12  Fractional Lengthening of the Finger and Wrist Flexors in the Forearm Operative
Technique, cont’d
C and D, The deep volar muscles are exposed by retracting
the brachioradialis muscle and radial vessels radially and the
flexor carpi radialis and flexor digitorum sublimis muscles
ulnarward. The median nerve is identified and protected
from injury by retracting it medially with the flexor carpi
radialis muscle. The flexor pollicis longus and flexor digito-
rum profundus muscles are lengthened by making two inci-
sions in their tendinous parts and sliding them in the same
manner as described for the superficial volar forearm
muscles. Continuity of muscles is maintained by gentle
handling of tissues and by taking care that adequate muscle
substance underlies the divided tendinous parts. Sliding
lengthening is achieved by separating the tendinous fibers
by slow, but firm extension of the thumb and four ulnar
digits.
Next, the range of passive supination of the forearm is
tested. If a pronation contracture is present, the pronator
teres muscle is lengthened by two oblique incisions, 1.5 cm
apart, in its tendinous fibers. Again, the underlying muscle
tissue should not be disturbed. The forearm is forcibly
supinated; the tendinous segments will slide and separate,
thereby elongating the muscle.
The tourniquet is released and complete hemostasis is
obtained. The deep fascia is not closed. The subcutaneous
tissue and skin are approximated by interrupted sutures. An
above-elbow cast that includes all the fingers and the thumb
is applied to immobilize the forearm in full supination, the
elbow in 90 degrees of flexion, the wrist in 50 degrees of
extension, and the fingers and thumb in neutral extension.
Postoperative Care
Four weeks after surgery, the cast is removed and active
exercises are started to develop motor power in the elon-
gated muscle. Squeezing soft balls of various size and other
functional exercises are carried out several times a day. An
aggressive occupational therapy program is essential. The
corrected position is maintained in a bivalved cast. As motor
function develops in the elongated muscle and its antago-
nists, periods out of the cast are gradually increased.
 CHAPTER 35  Disorders of the Brain e127

Digits extended

Median nerve
retracted

Flexor pollicis
longus muscle

Flexor digitorum
profundus muscle

Radial vessels
retracted

Pronator
teres muscle

Lines of incision in the tendinous fibers

of deep volar forearm muscles
C
Note the sliding lengthening by separation
of tendinous fibers
D
 C H A P T E R 3 6 
Disorders of the
Spinal Cord
Chapter Outline
Myelomeningocele
Other Forms of Spinal Dysraphism
Spinal Muscular Atrophy
Myelomeningocele
Management of a child with myelomeningocele is one of
the most challenging tasks faced by pediatric orthopaedic
surgeons.*
Typically, patients with myelomeningocele are referred
to as having what is termed spina bifida, but a more specific
definition of terms is in order. Myelomeningocele is one of
the more severe forms of what is termed spinal dysraphism,
which also includes meningocele, lipomeningocele, and
caudal regression syndrome (or lumbosacral agenesis).
Neural tube defects is another collective term, encompass-
ing the disorders of anencephaly, myelomeningocele, and
encephalocele.
Spina bifida occulta is the mildest form of spinal dysra-
phism; this condition can be a simple radiographic curiosity
or an incidental finding of incomplete formation of the
posterior arch of the spinal column, usually identified in the
lower lumbar or sacral spine. Typically, neither the overlying
skin nor the underlying neural elements are affected, and
the patient is otherwise completely normal clinically and on
imaging studies. In an occasional patient, spina bifida occulta
may be associated with an overlying sinus, fatty deposit, or
hemangioma. In these cases, there may be associated myelo-
dysplasia that requires further investigation, typically con-
sisting of magnetic resonance imaging (MRI) of the spinal
cord.
Meningocele is a condition in which the meninges are
exposed in a saclike protrusion, almost always posteriorly,
but rarely anteriorly or laterally. Because of the risk of break-
down of the meninges and secondary infection of the central
nervous system (CNS), surgical repair is usually required.
This lesion may be present in the cervical, thoracic, lumbar,
or sacral spine. When located at the base of the skull, it is
usually referred to as an encephalocele. In meningocele,
there is typically no involvement of the neural elements (i.e.,
no myelodysplasia), so there is usually no associated bowel,
bladder, or lower extremity paralysis. Affected patients do
have a higher than average risk for congenital vertebral
anomalies, progressive noncongenital scoliosis during growth,
or the development of tethered cord syndrome, presumably
*References 23, 80, 127, 151, 159, 204, 216, 283.
e128
Karl E. Rathjen
because of scarring in the meninges; as a result, they require
monitoring during growth.
Myelomeningocele (spina bifida, or sometimes meningo-
myelocele) is a severe developmental anomaly characterized
not only by exposure of the meninges but also by myelo-
dysplasia of the underlying neural elements and CNS mal-
formation. Dysplasia of the spinal cord and nerve roots
results in bowel, bladder, motor, and sensory paralysis distal
to the malformation in most patients. Patients with myelo-
meningocele often have other lesions of the spinal cord,
such as diastematomyelia and hydromyelia, which may be
found at sites remote from the myelodysplastic lesion itself.
Structural abnormalities of the brain cause hydrocephalus
in most patients, potentially compromising neurologic func-
tion at yet another level.
Myelomeningocele is a multisystem disorder that
demands a coordinated approach from numerous health
disciplines to maximize each patient’s potential. The ortho-
paedist should remember that the patient’s neurologic dys-
function is rarely limited to the level corresponding to the
site of the spinal column dysraphism. Untreated hydro-
cephalus, Arnold-Chiari malformations, ventricular shunt
revisions, CNS infections, and scarring of the residual spinal
cord (tethered cord syndrome) may all compromise what
would otherwise be considered a stable neurologic disorder.
The orthopaedic surgeon should always document the level
of neurologic function, and any loss of function should be
evaluated.
Incidence
The incidence of myelomeningocele varies around the
world.†
Regional and national variations may be the result of dif-
ferent genetic compositions among different populations, as
well as environmental factors. The birth prevalence rate of
myelomeningocele from 1983 to 1990 for 16 states in the
United States was 4.6 cases/10,000 live births. Prevalence
by individual state varied from 3.0/10,000 in Washington
to 7.8/10,000 in Arkansas. The ratio of affected females to
males was 1.2:1; this slight female predilection has been
noted in other studies.
The incidence of infants born with neural tube defects
has been decreasing.‡
Some of this decrease may be the result of natural or
unidentified causes,52,70,332 but two identifiable factors also
appear to play a role. The more important factor is prenatal
screening using ultrasonography, measurement of the mater-
nal serum alpha-fetoprotein (AFP) level, or both, and elec-
tive termination of affected pregnancies. AFP is a protein
†
References 4, 51-53, 62, 70, 73, 98, 133, 163, 180, 277, 318.
‡
References 4, 51-53, 62, 70, 163, 277, 318, 332.
 CHAPTER 36  Disorders of the Spinal Cord e129

Rostral
Neural fold
Neural crest Surface ectoderm

Neural groove

B
B Notochord
C

Somite
Neural tube
Neural crest
Surface ectoderm

Dorsal
aorta
Yolk sac
A C
Caudal
FIGURE 36-1  Embryologic development of the spinal cord, demonstrating the formation of the neural crest with infolding of the neural
plate into the neural tube. A, Embryonic appearance at approximately 22 days. The neural tubes have fused opposite the somites but are
widely spread out at both ends of the embryo. Closure of the neural tube occurs initially in the region corresponding to the future
junction of the brain and spinal cord. B, Cross section at level B (of part A) demonstrating formation of the neural tube and its
detachment from the surface ectoderm. C, Cross section at level C (of part A). Note that some neuroectodermal cells are not included in
the neural tube but remain between it and the surface ectoderm as the neural crest. These cells first appear as paired columns but soon
break into a series of segmental masses. (Adapted from Moore KL: The developing human, Philadelphia, 1988, Saunders, p 4.)
normally present in fetal tissues and amniotic fluid from of pseudostratified epithelium. As the cells proliferate, a
weeks 6 to 14 of gestation. With closure of the abdominal groove forms in the sagittal plane of the cell mass. This
wall anteriorly and the neural tube posteriorly, AFP is no groove deepens, bringing the lateral portions of the neural
longer released into the amniotic fluid, so amniotic AFP plate toward each other. Contractile proteins located within
decreases to undetectable levels. If the neural tube or the superficial margin of these cells are thought to be
abdominal wall remains open, AFP remains detectable in responsible for the actual contraction and drawing together
amniotic fluid and maternal serum. A maternal serum AFP of the neural folds. Progressive flexion brings the peripheral
screening program has reportedly reduced the birth inci- edges of the neural folds into contact. On about day 21, cell
dence of neural tube defect by 80% in Scotland.70,332 Other adhesion occurs at the point of contact, fusing the neural
studies of AFP screening programs have reported a decrease folds into the neural tube. Initially, fusion occurs near the
in the birth incidence of anencephaly (by 96% to 100%) center of the embryo at a point destined to become the
and myelomeningocele (by 60% to 82%).9 craniovertebral junction. Fusion then proceeds longitudi-
The second factor in the decrease of neural tube defects nally in both directions, forming the long neural tube. The
is the administration of folate to women before and during cephalic (brain) end of the embryo closes first.
pregnancy.§ As the neural folds fuse to form the neural tube, the
It has been demonstrated that adequate intake of folic superficial ectoderm separates from the underlying (now
acid periconceptionally can reduce the incidence of neural fused) neural ectoderm and fuses with itself across the
tube defects by 50% to 70%.29 The incidence of neural tube midline to close the back. The separation of superficial and
defects in the United States decreased 36% after the U.S. neural ectoderm creates a plane into which mesenchymal
Food and Drug Administration (FDA) mandated folate for- cells migrate. This mesenchyma gives rise to the neural arch
tification in all standardized enriched cereal grain products of the vertebrae and to paraspinal muscles. Closure of the
in 1998.246 neural ectoderm into a tubular structure and separation of
the neural tube from the superficial ectoderm are critical
events in the development of the CNS, and they are com-
Embryology
pleted by 4 weeks after fertilization (Fig. 36-1).
In the embryo, the CNS begins as a dorsal focal thickening
caused by the proliferation of ectodermal cells. These cells
Causative Factors
increase in number and in height, ultimately forming a layer
The embryonic origin of myelomeningocele likely stems
§
References 36, 103, 165, 234, 237, 309, 348. from developmental abnormalities occurring at 26 to 28
e130 SECTION VI  Neuromuscular Disorders
days of gestation, during the phase of closure of the neural
tube. Abnormalities that develop during this process are
termed neurulation defects and include myelomeningocele
and anencephaly. Abnormalities arising in the next phase
(canalization), from 28 to 48 days of gestation, are termed
postneurulation defects and include meningocele, lipome­
ningocele, and diastematomyelia.127 Although considerable
insight into normal tube closure and the factors that can
disrupt this process has been gained in recent years, the
exact mechanisms whereby human myelomeningocele and
anencephaly arise remain elusive.79
Morgagni is often credited with developing the theory
that myelomeningocele results from rupture of the distal
end of the neural tube.236 According to his theory, when cere-
brospinal fluid (CSF) cannot escape from the ventricular
pathways, it flows instead into the central canal of the neural
tube, distends the tube, and bursts it open at the distal end,
creating the myelomeningocele. It appears unlikely that
Morgagni actually developed this theory because the patho-
physiology of CSF flow was not understood at that time
(1769). Morgagni’s real contribution was to note an associa-
tion between hydrocephalus and spina bifida. A different
mechanism for the development of myelomeningocele was
postulated by Gardner.117 He thought that intrauterine
hydrocephalus caused the distal end of the neural tube to
rupture, producing myelomeningocele.
It was von Recklinghausen who postulated that myelo-
meningocele resulted from failure of the neural tube to
close.350 This view was supported by Patten, who showed
that overgrowth of the neural tube in embryos implied lack
of closure or interference with closure of the neural tube.265
As has been proven over time, myelomeningocele can be
produced by interference with closure of the neural tube
and by rupture of the already closed neural tube.317 Disten-
tion and rupture of the developing spinal cord in mouse
embryos can be caused by poisoning the pregnant mouse
with vitamin A. Thus primary failure to close and secondary
rupture of the closed neural tube are possible causes of
myelomeningocele.
Folate
Although several factors contributing to the development
of myelomeningocele have been proposed in the litera-
ture,58,249 the most important one identified is the associa-
tion between folate deficiency in pregnant women and an
increased risk of neural tube defects, including myelome-
ningocele, in their offspring. One study that compared
mothers of children with neural tube defects, mothers of
children with other abnormalities, and mothers of normal
children found no difference in folate intake during preg-
nancy among the groups.233 Most studies, however, have
demonstrated a 60% to 100% reduction in the risk of neural
tube defects with the administration of adequate levels of
folate to pregnant women.‖
The U.S. Public Health Service recommends that all
women of childbearing age who are capable of becoming
pregnant should consume 0.4 mg of folic acid/day to reduce
the risk of having a child affected by spina bifida or other
neural tube defect.50 Total folate consumption should nor-
mally be less than 1 mg/day.
‖ ¶
References 36, 165, 234, 237, 239, 309, 348.
Heredity
Genetic factors also appear to play an important role in
myelomeningocele. Genetic studies have investigated the
possible role of cell adhesion molecules in neural tube for-
mation and closure.74 Variations in these molecules may
influence the risk for human neural tube defects. There is
a significantly greater incidence of neural tube defects,
including myelomeningocele, in the siblings of children
affected with anencephaly or myelomeningocele than in the
general population; the familial incidence of major neural
tube defects has been reported as 6% to 8%.¶
For a couple with one affected infant, the risk of subse-
quent siblings incurring a major CNS malformation is
approximately 1 in 14.
The exact nature of this increased familial incidence is
not understood. An overall prevalence of 21.4% compared
with 4.5% in adult controls was reported in one study.184
The risk is higher in larger families and in specific socioeco-
nomic and geographic groups. Thus families with a history
of neural tube defects should be counseled about this
potential development, and pregnancies should be screened
(see earlier, “Incidence”).
Pathology
A thorough description of the pathologic findings of myelo-
meningocele was provided in 1886 by von Recklinghausen,
who accurately dissected the spinal cord and meninges in
cases of myelomeningocele and recognized every variety of
spina bifida.350 Lesions can occur at any level along the spinal
column but predominate in the lumbosacral area. The next
most common site is the cervical spine (usually as an
encephalocele or meningocele only), and a smaller number
of lesions are scattered along the thoracic spine. The great
majority of lesions are posterior, but a rare anterior or lateral
meningocele may be encountered. In this case, the anterior
cyst protrudes through the vertebral body, not through the
vertebral arch.
The basic deformity of myelomeningocele is an open
neural placode, which represents the embryologic form of
the caudal end of the spinal cord. A narrow groove passes
down the placode in the midline. This represents the primi-
tive neural groove and is directly continuous with the central
canal of the closed spinal cord above (and occasionally
below) the neural placode. CSF passes down the central
canal of the spinal cord and discharges from a small pit at
the upper end of the placode to bathe the external surface
of the neural tissue. This fluid does not indicate rupture of
the myelomeningocele.
Skin
Skin is almost always absent over the myelomeningocele
sac. Between the edge of the skin and neural placode is a
zone of thin epithelium. At points, skin may actually reach
the edge of the neural placode. In the usual type of lesion,
there is a raised mass on the back covered laterally at its
base by normal skin, but the apex of the mass is devoid of
skin (Fig. 36-2); it is covered by a paper tissue–thin mem-
brane (arachnoid) through which nerve roots can be seen.
References 84, 144, 184, 185, 191, 307, 364.

FIGURE 36-2  Clinical appearance of untreated myelomeningocele
sac. Note the large protrusion of the meninges, without protective
skin. Breakdown of the sac usually occurs, followed by further
neurologic injury, meningitis, and potentially encephalitis.
Within 1 or 2 days, this tissue breaks down to an ulcerated
granulating surface. The lesion may heal over completely
by epithelial growth from the periphery. Usually, however,
the mass sloughs from secondary infection, which, without
intervention, usually leads to meningitis and death. Hem-
angiomatous or other pigmented lesions are frequently seen
in the skin surrounding the sac.
Meninges
Underlying the neural placode is the arachnoid sac and
subarachnoid space. Because the superficial (dorsal) surface
of the neural placode represents the everted interior of the
neural tube, the deep (ventral) surface represents the entire
outside of what should have been a closed neural tube. Thus
the ventral and dorsal nerve roots arise from the deep
(ventral) surface of the neural placode and pass through
the subarachnoid space to their root sleeves. Because the
placode is everted, the two dorsal roots are lateral to the
two ventral roots.
Within a few millimeters of the edge of the skin is the
junction between the skin and dura mater. Outside the dura
mater is a true epidural space that contains epidural fat. The
underlying vertebral bodies are flattened and widened. The
pedicles are everted and lie almost horizontal in the coronal
plane. The laminae are hypoplastic and often everted. The
spinous processes are absent. The paraspinal muscle masses
are present but are everted with the pedicles and laminae;
thus they lie anteriorly and, as a result, often act as flexors
of the spine instead of extensors. The muscles may be mark-
edly attenuated because of the lack of innervation from the
CNS.
The size of the sac on the child’s back at the time of
birth depends on the amount of spinal fluid that has col-
lected ventral to the neural placode.
CHAPTER 36  Disorders of the Spinal Cord e131
Spinal Cord
Dysplasia of the spinal cord is invariably present. The cord
may be (1) cystic or cavitated, (2) solid but degenerated
and disorganized, or (3) grossly proliferated. Frequently, all
these features are found together in varying degrees.
Peripheral Nerve Roots
Peripheral nerve development is not affected in myelome-
ningocele. At surgery and on dissection of postmortem
specimens, normal peripheral roots are found in every case.
However, inside the dura mater, the roots appear to have
tenuous connections with the cord itself and are occasion-
ally hard to identify.
Vertebrae
The principal defect is the arrested development of the
posterior elements (laminae and spinous process). The pos-
terior elements may be completely absent, in which case
the pedicles alone are present, or there may be partial
lamina formation. In the latter case, the intraspinal canal is
widened as a result of lateral displacement of the pedicles
on the vertebral bodies.
Brain
There may be associated anomalies of the cerebellum and
brainstem (Chiari type II deformity) in which the posterior
lobe of the cerebellum, medulla, and fourth ventricle have
herniated through the foramen magnum into the cervical
spinal canal (Fig. 36-3). Rarely is a Chiari I deformity seen
in myelomeningocele. In the more severe Chiari type III
malformation, the entire cerebellum and lower brainstem
are inferior to the foramen magnum. Hydrocephalus devel-
ops from the obstruction of CSF flow at the roof of the
fourth ventricle because of dislocation of the ventricle,
occlusion of the subarachnoid space at the site of herniation,
occlusion of the same space at the tentorial level by adhe-
sive arachnoiditis, or associated aqueduct stenosis. Other
causes of hydrocephalus in myelomeningocele are the
Dandy-Walker malformation, which consists of marked dis-
tention of the fourth ventricle from occlusion of the foram-
ina of Luschka and Magendie, and so-called forking of the
aqueduct of Sylvius, in which the aqueduct is represented
by two narrow channels situated in a sagittal plane. Radio-
logic studies of CSF dynamics in children with hydrocepha-
lus have shown increased production of CSF. Secondary
changes in the brain develop as a result of increased pressure
caused by the hydrocephalus.
Natural History
Before the introduction of the Holter valve for the shunting
of hydrocephalus and adequate closure of the myelodysplas-
tic lesion, death frequently occurred in infancy because of
hydrocephalus or sac breakdown followed by meningitis;
survivors usually died from renal failure (55 of 57 in one
study).275 Shunting of the hydrocephalus combined with sac
closure led to a significant increase in survival but resulted
in a large number of severely handicapped children.181,227
This led to the introduction of selection criteria to deter-
mine which infants should receive aggressive surgical
care.180-183,185 Specific criteria against aggressive surgical
e132 SECTION VI  Neuromuscular Disorders

B
A

D
FIGURE 36-3  Arnold-Chiari malformations of the brainstem. A, Type I Arnold-Chiari malformation, cerebellar tonsillar herniation only.
B, MRI appearance of type I Arnold-Chiari malformation. Note the associated cervicothoracic syringomyelia. C, Type II Arnold-Chiari
malformation, more extensive herniation of the cerebellum and brainstem through the foramen magnum. Type II malformations are
usually seen in patients with myelomeningocele. D, MRI appearance of type II Arnold-Chiari malformation. Note the associated
cervicothoracic syringomyelia.

treatment of patients born with myelomeningocele were
proposed by Lorber after a review of 524 cases.181 He found
that the presence of severe paralysis (upper lumbar or
higher), head circumference at or above the 90th percen-
tile, congenital kyphosis, other major congenital anomalies
such as heart disease, and severe birth injury were associ-
ated with a significantly greater likelihood of death in
infancy or severe handicaps in survivors. These factors
became known as Lorber’s criteria, and their presence at
birth was taken as a contraindication to aggressive surgical
intervention.55,181-183
However, other studies have noted that the level of
paralysis is not an indicator of survival in patients who are
not treated surgically.327 At present, most U.S. centers do
not have specific criteria for early surgical treatment, and
the parents of all affected infants are offered surgical closure
of the sac, followed almost invariably by ventriculoperito-
neal shunting.283
Fetal surgery for myelomeningocele was first per-
formed in 1997 in the hope that intrauterine repair of the
defect would result in less hindbrain herniation and
improved mental and motor function. The Management of

Myelomeningocele Study (MOMS) was a randomized, mul-
ticenter, fetal surgery study started in 2003. The study was
stopped after enrollment of 183 of the planned 200 patients
because of the efficacy of prenatal surgery in decreasing the
need for shunt placement at 1 year and improving mental
and motor function at 30 months. Prenatal surgery was also
associated with an increased risk of preterm delivery and
uterine dehiscence.2 Despite this landmark study, fetal
surgery for myelomeningocele remains controversial, both
ethically and clinically.69,100,136,189,190,275
Prognosis
Although most infants with myelomeningocele survive and
most of these children can attend regular school, a recent
study of adults with spina bifida demonstrated low rates of
employment and independent living.26
Gross motor function in patients with myelomeningo-
cele has been studied extensively. Numerous studies have
addressed factors affecting the short- and long-term poten-
tial for ambulation.# The single most important physical
factor for maintaining ambulation in adulthood seems to be
the strength of the quadriceps muscle.10,18,80,142,291,323 Most
patients with a lower lumbar (L4 or L5) or sacral lesion are
community ambulators (95%); those with higher levels
affected (thoracic) usually are not (<24%).10,18,137,328 Addi-
tional factors in nonambulation are obesity, hip deformity,
scoliosis, foot and ankle deformity, and age.
Schopler and Menelaus291 found that only 4 of 51 patients
with normal quadriceps strength in the first 3 years of life
demonstrated deterioration in strength over time. Most
patients (21 of 22) initially assessed as having at least grade
4 strength improved, but none of the patients with less than
grade 4 strength improved. Quadriceps strength was strongly
correlated with ambulation ability—98% with grade 4 or 5
quadriceps strength were at least household ambulators,
and 82% were community ambulators; in contrast, 88%
with grade 0 to 2 quadriceps strength were nonambulatory.
McDonald and colleagues212 reported that the strength of
specific muscle groups predicted 86% of the mobility
outcome. All patients with an iliopsoas strength of grade 3
or less relied on wheelchairs for some or all of their mobility,
whereas none of those with an iliopsoas strength of grade 4
or 5 relied solely on wheelchairs. Patients with good ilio-
psoas and quadriceps strength and antigravity gluteal
strength could be expected to ambulate without a wheel-
chair, and those with grade 4 or 5 gluteal and tibialis anterior
strength usually walked without aids or braces.
Associated Health Problems
General or Universal Problems
Inexperienced physicians may be led to believe that myelo-
meningocele represents a congenital lower extremity paral-
ysis that can be characterized by the level of the lesion, with
a readily definable border between functioning and non-
functioning motor and sensory root levels and a predictable
#
References 10, 18-20, 40, 54, 80, 89, 96, 97, 107, 131, 137, 142,
166, 195, 203, 207, 212, 243, 253, 268, 291, 305, 323, 329, 333,
356.
CHAPTER 36  Disorders of the Spinal Cord e133
lower extremity and overall patient function to match. It
must be noted that myelomeningocele is a complex con-
genital anomaly that is often dynamic and changing in its
neuromuscular components, affecting the patient’s mobility
capabilities and orthopaedic surgery requirements. In addi-
tion, patients typically have bowel and bladder paralysis,
CNS anomalies (especially hydrocephalus), and congenital
anomalies of the spine and lower extremity, all of which
confound the clinical picture. Neurologic function can
change over time as a result of unchecked or complicated
hydrocephalus or scarring of the spinal cord. The most
important organ systems requiring management in these
patients, in addition to the musculoskeletal system, are the
neurologic, gastrointestinal, and genitourinary systems.
Upper Extremity Function
Upper extremity function is often disturbed in patients
with myelomeningocele (92%).*a
Upper extremity dysfunction can be secondary to neu-
rologic impairment by hydrocephalus, brainstem compres-
sion by the Arnold-Chiari malformation, hydromyelia
involving the cervical spinal cord, or cerebral insult caused
by the placement of ventricular shunts or infection of these
shunts. Patients with higher lesions (thoracic or upper
lumbar) and patients who have undergone more than three
shunt operations are more likely to have abnormal hand
function,205 although one study found no correlation with
the level of the myelodysplastic lesion.342 Upper extremity
dysfunction can take the form of spasticity, ataxia, dys-
praxia, or a combination of these. The presence of spasticity
may be particularly important because patients with upper
extremity spasticity are less likely to be independent in
activities of daily living (ADLs).208 Decreased grip strength
also is common. Several authors have noted that hand func-
tion can improve over time in school-age children.148,342 An
assessment of hand function by therapists and orthopaedists
is important to establish appropriate goals for ADLs, class-
room performance, and the need for mobility aids.
Early Puberty
Girls in particular are at risk for the development of early
or precocious puberty, thought to be related to increased
intracranial pressure and a higher incidence of shunt mal-
functions and revisions.114,124,271 Furman and Mortimer
noted that girls with myelomeningocele began menstruating
at an average age of 10 years, 3 months, significantly younger
than their mothers, siblings, and the U.S. mean.114
Cognitive Problems
Cognitive learning difficulties are regularly reported in
patients with myelomeningocele, particularly those requir-
ing shunts.81,104,139 Thus difficulties at school should be
assessed and addressed by the health care team caring for
the patient. Performance level tends to improve with
increasing age, emphasizing the importance of monitoring
the overall health and neurologic function of the child.248
Children with myelomeningocele tend to have difficulty
adjusting to their nondisabled peers,368 and those with
myelomeningocele and normal IQs have a higher rate
of psychosocial maladjustment than mentally disabled
*aReferences 148, 164, 205, 208, 238, 252, 253, 342.
e134 SECTION VI  Neuromuscular Disorders
children in mainstream schools. Rüdeberg and associates
emphasized the importance of coordinated, aggressive reha-
bilitation if these children attend regular schools.279 One
study noted poorer school performance in ambulatory
patients, suggesting that the energy devoted to ambulation
by children not using a wheelchair impairs their intellectual
performance in school.104
Psychosocial Implications
The impact of myelomeningocele on the patient, family, and
community health care system is significant.†a
Appleton and colleagues noted that children with myelo-
meningocele aged 9 to 18 years were at greater risk for
depressive mood, low self-worth, and suicidal ideation.
Girls were more effected than boys, and self-evaluation of
physical appearance was associated with depressive symp-
toms.8 A study of a large Scandinavian myelomeningocele
population found that families with children with myelo-
meningocele coped surprisingly well compared with control
families.168 However, responsibility for care of the disabled
children fell largely to the mothers, who were less likely
than controls to think that they were receiving adequate
support. Both parents reported more frequent absences
from work than controls. Mothers of children with myelo-
meningocele were significantly less likely to work outside
the home. These findings were not related to the severity
of the children’s disabilities. A study by Holmbeck and col-
leagues found that families with the least physically impaired
children reported the most family difficulties.139
Specific Problems by Spinal Level
Thoracic Level
Patients with thoracic level lesions essentially have flail
lower extremities and, based solely on the limbs’ total
flaccid paralysis, would not be expected to develop muscle
imbalance–induced lower extremity deformities. In fact,
however, a frog-leg deformity is frequently present in these
patients at birth, characterized by hip flexion, abduction,
and external rotation contractures. In addition, there may
be knee flexion and ankle equinus contractures. These may
respond to judicious passive manipulation, but the hip con-
tractures often do not respond adequately to this treatment,
and the surgeon is faced with the decision whether to
release the contractures to allow the lower limbs to be
placed in a position for upright mobility. Occasionally, these
patients develop secondary flexion deformities from spas-
ticity in their lower extremities, which is actually presumed
to be involuntary reflex motor function below the level of
the myelodysplastic cord lesion. The most frequent defor-
mities encountered by the orthopaedic surgeon in this
patient group are spinal—congenital scoliosis, developmen-
tal scoliosis, and progressive congenital kyphosis.
Many patients with thoracic level lesions can achieve
exercise or household ambulation as young children.54,203 All
require extensive bracing above the hip and upper extrem-
ity aids (walker or crutches), and they ambulate with a
swing-through gait using their upper extremities and
abdominal muscles. The family must be aware that for most
†a
References 8, 34, 139, 150, 168, 179, 211, 248, 260, 279, 368.
of these patients, this is a temporary capability. Because of
the energy expenditure required for such ambulation, most
patients ultimately choose to use a wheelchair full time,
except for transfers.‡a
Charney and co-workers found that compliant parents,
physical therapy, and the absence of mental retardation
were the most important factors in predicting community
ambulation in children with thoracic lesions, whereas scolio-
sis and hip surgery were not factors.54 Swank and Dias328
found that 24% of patients with thoracic lesions were com-
munity ambulators, 41% were household ambulators, and
35% were nonambulatory (accounting for all but one of the
nonambulators in the entire population); of these, 70% had
associated orthopaedic defects at birth, most commonly
clubfeet, kyphosis, hip dislocation, and knee flexion
deformity.
Upper Lumbar Level
Patients with upper lumbar lesions have hip flexor power
and some adductor power, but no motor control of the
knees or feet. For the most part, their ambulation potential
and needs parallel those of patients with thoracic level func-
tion; theoretically, however, they may be more efficient
walkers as children because their hip flexor and adductor
strength can be recruited to provide a better swing-through
gait or, with the use of a reciprocating gait orthosis (RGO),
a reciprocating gait (see later, “Orthotic Management”).
This iliopsoas strength is usually not sufficient in adoles-
cence and adulthood, when the natural history resembles
that of patients with thoracic lesions, in that they rarely
continue to ambulate as adults.§a
Hoffer and colleagues, however, found no differences in
ambulation between adult patients with upper and lower
lumbar lesions.137 Patients in this group experience signifi-
cantly more paralytic hip dysplasia and dislocation because
of imbalance at the hip, with hip flexors and adductors
present, but no hip extensors or abductors.
Lower Lumbar Level
Patients with lower lumbar lesions have greater hip adduc-
tor strength and, more importantly, quadriceps power to
provide active knee extension. Those with L5 functioning
have a functioning tibialis anterior, and they may have
medial hamstring function as well. Hip strength is usually
adequate to allow these patients to walk with the hips
unbraced—that is, with knee-ankle-foot orthoses (KAFOs).
Their gait exhibits a compensatory combined maximus-
medius lurch (the limb in external rotation, and a backward
and lateral lean of the trunk over the hip to stabilize it in
stance). Some patients may be able to walk with only ankle-
foot orthoses (AFOs); however, weakness of the foot, ankle,
and hip abductors and extensors leads to a lurching gait that
imposes a great deal of stress on the unbraced knee.170,335,357
These patients are also at high risk for the development of
progressive hip subluxation and dislocation. Surgical treat-
ment of the hip is most controversial in this group of
patients in terms of its influence on the preservation of
long-term ambulation.‖a
‡a
References 10, 18, 54, 80, 137, 142, 203, 206, 207, 212, 291, 329.
§a
References 10, 18, 80, 142, 291, 328, 329.
‖a
References 5, 42, 46, 87, 96, 97, 105, 107.

In the childhood population studied by Swank and Dias,
33 of 36 patients (92%) were community ambulators, and
the other 3 (8%) were household ambulators.328 Factors that
led to decreased ambulation included deterioration of the
neurologic level of the lesion, spasticity, knee and hip flexion
contractures, and lack of motivation.19,20 Clubfeet and hip
dislocation are also frequent in this group.
Sacral Level
Patients with sacral level myelomeningocele have near-
normal knee function and more stable hip, foot, and ankle
function. Their partial paralysis and insensate skin can lead
to a number of foot problems, however, including cavovarus
deformity, claw toes, and neurogenic ulcers.¶a
Hip subluxation can occur but is less frequent than in
those with lumbar lesions. Knee problems can be associated
with torsional or angular stress during ambulation.90,91,126,170,347
Excessive ankle dorsiflexion or external rotation may make
ankle orthoses difficult to fit or ineffective in stabilizing the
ankle. In theory, most sacral level patients could ambulate
without orthoses but, in practice, weak gastrocnemius and
foot intrinsics result in abnormal foot and ankle function;
gait studies have demonstrated that even patients with
sacral level myelomeningocele ambulate most effectively
with AFOs and crutches because of stresses at the knee and
weakness in the foot and ankle.170,261,346
Long-term reviews of patients with sacral level paralysis
are a sobering reminder of the multifactorial risk of losing
neurologic function and mobility. Brinker and colleagues40
found that the ability to walk had declined in 11 of the 35
community ambulators (average age, 29 years), and a house-
hold ambulator had become nonambulatory; 15 patients had
developed osteomyelitis, and 11 required amputations. In
Selber and Dias’ report,294 41 of 46 slightly younger patients
(average age, 23 years) were still community ambulators,
but 39 had undergone a total of 217 orthopaedic procedures
and 12 had tethered cord release.
Complications
Latex Allergy
Patients with spina bifida are at risk for the development of
a serious allergy to latex.#a
Contact with latex in sensitized patients may produce
local rashes or mucosal irritation.
Cardiovascular collapse is the most serious manifestation
of latex allergy.14,152,368 About 10% to 15% of patients
studied reported a definite allergy to latex.200,340 Risk factors
for the presence of latex allergy include a history of prior
allergic reactions and multiple previous surgeries, particu-
larly urologic and orthopaedic procedures.200,201 Sensitivity
to latex can be ascertained by a latex skin prick test or an
assay for latex-specific immunoglobulin E in serum.
However, current practice is to perform surgery and other
invasive procedures in a latex-free environment in all
patients with myelomeningocele. This can prevent sensitiza-
tion and, over time, may reduce sensitization in those who
were previously sensitized.64,65 All personnel involved in the
¶a
References 40, 80, 110, 199, 261, 285, 294, 346.
#a
References 7, 14, 64, 65, 152, 200, 340, 367.
CHAPTER 36  Disorders of the Spinal Cord e135
management of a myelomeningocele patient, including
parents, nursing staff, anesthesiologist, and surgeon, must
be cognizant of the risk of latex allergy or of inducing it in
this patient population.
Infection
Patients with myelomeningocele have a higher rate of com-
plications, including postoperative infections, for almost all
orthopaedic surgical procedures compared with patients
undergoing similar procedures who do not have myelome-
ningocele. The reason is multifactorial, including poor nutri-
tion, bladder paralysis, absence of protective pain perception,
poor tissue perfusion and, in the case of spinal deformity
surgery, poor skin condition overlying the lumbar spine.130,326
Bladder paralysis and its management usually lead to the
presence of bacteria in the urinary tract. Diminished pain
perception and skin insensitivity lead to more frequent
wound breakdown and subsequent infection from unrecog-
nized direct compromise of the wound under a cast or from
excessive swelling in patients who move, ambulate, or oth-
erwise challenge the operated part in ways that a patient
with normal sensation would not.
Pressure Sores
Patients with myelomeningocele invariably have loss of pro-
tective sensation of the lower extremities corresponding to
the level of the lesion and, even more importantly, of the
buttocks and sacral area. As a consequence, these patients
are prone to the development of pressure sores, which may
occur on the soles of the feet from walking on bony exos-
toses or other prominences secondary to deformity or from
walking on rough or hot surfaces without adequate foot
protection. Patients who crawl may get pressure sores on
the dorsum of their foot from similar trauma, especially
those with paralytic, uncorrected, or recurrent equinovarus
deformity, or in the prepatellar area. The medial malleolus
is a common site of pressure sores in patients with valgus
deformity of the distal tibia who use AFOs or KAFOs that
do not or cannot adequately accommodate the medial mal-
leolar prominence.
Patients who are primarily sitters are especially prone to
pressure sores. These can develop in the sacrococcygeal area
or over the ischial tuberosities or greater trochanters.
Patients with urinary incontinence who cannot stay dry and
clean are particularly susceptible to the development of
recalcitrant pressure sores, as are patients with pelvic obliq-
uity secondary to asymmetric hip deformity or lumbosacral
spinal deformity. Patients whose pelvic obliquity is fixed,
such as after spinal fusion to the pelvis, are at a relatively
higher risk for the development of sores, and the surgeon
must be very careful in the early postoperative period to
guard against this complication. Patients with insensate
skin over a kyphotic deformity may also develop sores over
the apex of the deformity from internal pressure necrosis
or from rubbing of the skin against the back of the wheel-
chair. Many children require special adaptations to their
wheelchairs such as custom-molded back supports or
Roho cushions (Roho Group, Belleville, Ill.) to distribute
weight-bearing forces and prevent excess pressure over
bony prominences.
The management of pressure sores involves education of
the child and family in prevention techniques, careful
e136 SECTION VI  Neuromuscular Disorders
postoperative management in at-risk patients, correction of
deformities that cause recalcitrant lesions, appropriate
brace modifications to prevent the brace from serving as a
source of skin breakdown and, as much as possible, a bowel
and bladder management protocol that keeps the child dry
and clean. This is particularly important in those who are
wheelchair-dependent. Patients and their families must be
educated to guard against skin contact with rough or hot
surfaces, inspect orthoses and wheelchairs for pressure
points, and shift and relieve body weight regularly while
sitting. Good perineal hygiene is essential. Established pres-
sure sores need prompt and aggressive treatment with
weight relief and correction of the source of excessive or
constant pressure. Pressure sores that are not treated in this
manner can lead not only to extensive soft tissue breakdown
and scarring but also to deep recalcitrant osteomyelitis
requiring repeated surgical débridement.
When placing patients in casts postoperatively, surgeons
must do so with great care and expertise. Cast padding
must be evenly and smoothly applied, with bony promi-
nences protected. Similarly, the casting material must be
carefully and evenly applied, without any pressure points
inadvertently created by fingers indenting the cast or chang-
ing the position of the patient’s limb after the padding and
casting material have been applied. Lower extremity casts
should extend beyond the toes but leave them visible to
protect the toes if the patient crawls or strikes them against
some hard surface (Fig. 36-4). Similarly, the surgeon must
educate the family to watch for sores developing on the
dorsum of the toes in a child permitted weight bearing in a
cast. As the plantar surface of the cast softens with ambula-
tion, the toes or dorsum of the foot will be pushed against
the dorsal surface or edge of the cast. Any undue swelling,
erythema, odor, or unexplained systemic reaction is an indi-
cation to remove a postoperative cast completely and
inspect the surgical wound and limb for evidence of skin
breakdown.
FIGURE 36-4  Proper casting of the feet in patients with
myelomeningocele is important to prevent pressure sores. The
casts should be well padded and should extend beyond the toes,
with the toes visible, to prevent sores at the ends of the toes as
the foot is dragged along the ground. The foot should be in a
neutral position anatomically.
Fractures
Patients with myelomeningocele are susceptible to patho-
logic fractures of the lower extremities, particularly in the
supracondylar femoral and supramalleolar tibial regions.
Risk factors include inattention toward insensate parts by
the patient or caretakers, joint contracture, postsurgical cast
immobilization, and higher levels of paralysis.*b
Newborns with higher levels of paralysis and joint con-
tractures are susceptible to birth fractures.37 Bone mineral
density has been found to be lower in patients with myelo-
meningocele than the normal population; patients with a
history of fracture have been found to have bone densities
lower than those in patients without a history of frac-
ture.272,330 Treatment with hydrochlorothiazide, known to
increase bone mineral density in patients with hypercalci-
uria, did not have a favorable effect on bone mineral density
in patients with myelomeningocele.273
Several precautions should be taken to prevent fractures
in this patient population. Caretakers and ultimately the
patient must be educated about safe transfer techniques.
Any passive manipulation of joint contractures must be
gentle, and the proper technique should be taught by an
experienced therapist or physician. Patients who must be
immobilized postoperatively in a cast should have the
affected extremity placed in a functional position to the
greatest extent possible, avoiding plantar flexion or exces-
sive knee flexion in particular. Mobilization from the post-
operative cast into removable splinting should be done as
soon as feasible. The physician and caretakers should be
alert to the development of signs and symptoms of fracture
after cast removal.
Fractures manifest with localized erythema, heat, and
swelling. Crepitus and deformity occur only with displaced
fractures. The warmth and swelling and frequent absence
of a specific history of trauma often cause an inexperienced
physician or caretaker to suspect infection rather than frac-
ture, and this impression may be fueled by a low-grade
fever. Although hematogenous osteomyelitis can occur in
patients with myelomeningocele, in the absence of direct
contamination of the bone by long-standing or extensive
pressure sores or surgical intervention, the correct diagnosis
is almost always fracture in this clinical scenario. Fractures
in patients with myelomeningocele tend to heal rapidly,
with abundant callus formation (Fig. 36-5). Fractures do
not, however, invariably heal without incident; malunion,
delayed union, and physeal growth disturbance have all
been reported.88,94,158,355 Therefore adequate maintenance of
alignment and immobilization are required. Physeal frac-
tures may be slow to heal and require reevaluation to detect
subsequent growth disturbance.68,158,264,355
Immobilization of the limb, whether after a fracture
or postoperatively, should be to the minimal extent
and shortest duration possible, in a position of function.
Protective orthoses should be available when the cast is
removed, and cautious range-of-motion and weight-bearing
exercises should be initiated under supervision. Failure to
follow these principles can lead to a prolonged and frustrat-
ing clinical sequence of mobilization after fracture or
surgery, juxtaarticular fracture, immobilization, increased
*bReferences 37, 68, 88, 94, 147, 158, 177, 264, 355.

FIGURE 36-5  Fractures in spina bifida frequently manifest with
asymptomatic swelling and erythema. Radiographically, there is
typically exuberant new bone formation from excessive movement
secondary to the lack of pain.
osteopenia and joint contracture, mobilization, and repeat
fracture.3
Treatment
Multidisciplinary Care
The health problems of patients with myelomeningocele
encompass many organ systems; their management must be
integrated to treat the whole child and provide the family
with the necessary support.256 Thus children with myelo-
meningocele are best assessed and treated in multidisci-
plinary clinics.†b
Ideally, the clinic should use an administrative or regis-
tered nurse coordinator to function as a patient advocate,
coordinate the disciplines evaluating the patient, schedule
ancillary investigations, and secure the results. This coordi-
nator also ensures that all the patient’s needs are being met
over time, including educational, vocational, and sexual
counseling. Other health care workers involved with the
patient or parents include the following: an orthotist to
provide and repair lower extremity and spinal orthoses; a
physical therapist to aid in lower extremity functional
assessment, bracing needs, and instructions in range-of-
motion exercises and mobility; an occupational therapist
to assess upper extremity function, adaptations for ADLs,
and educational modifications; a nurse to teach the parents
and subsequently the child about skin care and self-
catheterization; a psychologist to help parents cope with the
many challenges and stressors related to their child’s dis-
abilities, ameliorate self-destructive or hostile behavior
†b
References 24, 153, 154, 159, 160, 287, 320.
CHAPTER 36  Disorders of the Spinal Cord e137
associated with these disabilities, and address the low self-
esteem and peer adjustment issues common in patients
with visible disabilities and limited mobility; a urologist to
monitor genitourinary function and maximize bladder
control; a neurosurgeon who, after closing the myelodys-
plastic lesion and placing a ventriculoperitoneal shunt in
infancy, must monitor for shunt dysfunction and evidence
of tethered cord development; a social worker to assist the
family in finding financial support and obtaining educational
and vocational counseling; and, ideally, an experienced neu-
rodevelopmental pediatrician to oversee the whole process
and provide a general assessment of the child’s health.
Kinsman and Doehring reviewed the costs and indica-
tions for 353 hospital admissions of 99 adults with myelo-
meningocele over an 11-year period155 and found that 47%
of hospital admissions were for potentially preventable sec-
ondary conditions, such as serious urologic infections, renal
calculi, pressure ulcers, and osteomyelitis. The results of
this study emphasize the need for coordinated care among
adults with myelomeningocele and the importance of their
continuing education in self-care to prevent such problems.
Kaufman and colleagues specifically assessed the impact of
the disbanding of a multidisciplinary clinic on the myelo-
meningocele population.154 Despite the availability of spe-
cialty care in the same area, 66% of patients did not see a
physician regularly, and the authors recorded a serious
increase in morbidity in the affected patient population,
including amputation and nephrectomy. After the closing of
the multidisciplinary clinic, no one assumed the duties of
coordinator of care.
Neurosurgical Treatment
The neurosurgeon is an important member of the health
care team involved in the management of children with
myelomeningocele. The initial challenge faced by the neu-
rosurgeon is closure of the myelomeningocele sac; in 70%
to 90% of patients, sac closure is closely followed by the
need for ventriculoperitoneal shunting. In follow-up, the
neurosurgeon is actively involved in identifying and treating
shunt malfunction, shunt infection, brainstem compression
by the Chiari II (or Arnold-Chiari) malformation, develop-
ment of hydromyelia within the spinal cord, and tethering
of the distal nervous system tissue in scar, producing the
so-called tethered cord.
Closure of the Myelomeningocele Sac
Early closure of the sac (within 48 hours) is a cornerstone
in the management of children with myelomeningo-
cele.55,72,99,162,217,293 Before this became the standard proto-
col, death was almost universal secondary to meningitis and
ventriculitis. Depending on the extent of the dermal defect
and underlying bony deformity (specifically, congenital
kyphosis), closure can be achieved by direct approximation
of the skin over the defect, with or without undermining of
the skin, local rotational flaps, or musculocutaneous latis-
simus dorsi or gluteus maximus flaps. Defects larger than
approximately 18 cm are much more likely to dehisce after
primary direct closure, and consultation with a plastic
surgeon is generally indicated for the purpose of covering
the skin defect with a flap.72,125,293 If required because of the
underlying bony deformity, kyphectomy can be safely per-
formed at the time of dural sac closure in neonates, with
e138 SECTION VI  Neuromuscular Disorders

excellent initial correction.63 Eventual recurrence of the

kyphotic deformity over time should be expected, however,
despite the procedure. Fetal closure is discussed in the next
section.
Hydrocephalus
The Chiari II malformation, characterized by herniation of
the cerebellum and brainstem, is almost universally associ-
ated with myelomeningocele.198 This deformity, especially
after closure of the myelomeningocele sac, produces an
obstructive hydrocephalus, necessitating ventriculoperito-
neal shunting in approximately 70% to 90% of infants.
These shunts must be reevaluated periodically by the neu-
rosurgeon to ensure continued function and absence of
infection. Despite the presence of a shunt, the develop-
mental delays, learning difficulties, and problems with
executive functions are frequently seen in patients with
myelomeningocele.43,45,325,345
Although many patients have enlarged ventricles at birth,
symptomatic hydrocephalus usually develops only after
closure of the myelomeningocele sac. Thus many infants
undergo closure of the sac within 48 hours of birth, develop
hydrocephalus, and then undergo ventriculoperitoneal
shunt placement. A study comparing staged and simultane-
ous sac closure and shunting found that patients treated by
the simultaneous technique had a significantly reduced inci-
dence of wound leakage at the closure site and no deleteri-
ous effects with respect to shunt failure, hydrocephalus, or
CSF infection.232
There is increasing evidence that the neurologic deficits
in myelomeningocele patients are caused by the primary
myelodysplasia compounded by exposure of the neural ele-
ments to amniotic fluid in utero.46,229,230 As noted, this led
to the development of fetal surgical techniques to close the
sac in utero in the hope of limiting the secondary neurologic
injury. Preliminary reports in the small group of patients
treated in this way have suggested that the need for ven-
triculoperitoneal shunting is reduced, from 90% to 60%.42
However, fetal surgery is associated with maternal and preg-
nancy complications, premature birth chief among them.
Brainstem compression, presumably by the Chiari II mal-
formation, can lead to respiratory obstruction and apnea.138
Sleep disturbances related to air hunger, dyspnea, and
squeaky voice may all require assessment by a neurosurgeon
for the possible presence of brainstem compression as the
cause of these complaints.
Other Spinal Cord Abnormalities
Patients with myelomeningocele are subject to a number of
other spinal cord lesions that may require assessment or
treatment by a neurosurgeon, including hydromyelia, dia-
stematomyelia, and tethered cord syndrome.‡b
Hydromyelia (sometimes termed hydrosyringomyelia) is
a dilation of the central canal of the spinal cord. This lesion
is often detected as an asymptomatic finding on MRI, but
has been implicated in upper extremity weakness or spastic-
ity in some patients; thus patients with these clinical find-
ings should undergo MRI and neurosurgical evaluation.34,39,129
Diastematomyelia is a congenital anomaly of the spinal
cord and column consisting of a central splitting of the
‡b
References 25, 34, 35, 39, 129, 132, 134, 218, 274, 285, 336.
FIGURE 36-6  MRI appearance of tethered cord in a patient with
myelomeningocele. Normally, the conus should end at L1.
spinal cord by a fibrous, cartilaginous, or bony spicule145
(diastematomyelia is also discussed in Chapter 12). Myelo-
meningocele patients with other congenital vertebral anom-
alies may have an associated diastematomyelia, which
should be investigated by MRI if there is hypertrichosis,
progressive lower extremity weakness, spasticity, or back
pain or if corrective spinal surgery is planned.
Tethering of the spinal cord in scar tissue at the site of
repair of the initial myelodysplastic lesion may be the source
of significant symptoms as the child grows.§b
Symptoms attributed to the presence of a clinically sig-
nificant tethered spinal cord include back pain, especially at
the site of sac closure, progressive lower extremity weak-
ness, lower extremity spasticity, progressive foot deformity
or scoliosis, and changes in bladder habits and function.
Because a low-lying conus suggesting spinal cord tethering
is demonstrated on MRI in almost all patients (Fig. 36-6),34,35
the diagnosis of tethered cord is usually based on the pres-
ence of one or more of the symptoms or signs noted earlier,
typical MRI findings, and exclusion of hydromyelia or shunt
malfunction as an alternative explanation. Evidence of dete-
rioration in somatosensory evoked potentials or urodynamic
testing has been used by some to document symptomatic
tethering of the spinal cord.38,132,349
Sarwark and associates285 found that back pain resolved
after surgical untethering, and curves stabilized or improved
in 60% of patients with scoliosis and in 78% of patients with
lower extremity weakness. Spasticity was least affected by
surgical untethering, improving in only 43% of patients
but stabilizing in the remainder. Pierz and colleagues269
reported that patients with curves less than 40 degrees
experienced some improvement after an untethering pro-
cedure, but those with curves more than 40 degrees or
§b
References 25, 34, 35, 132, 134, 141, 218, 222, 274, 285, 289, 336.

thoracic neurologic levels had no improvement in scoliosis.
McLaughlin and co-workers found that intraspinal rhizot-
omy and distal cordectomy were effective in ameliorating
symptoms and lower extremity deformities caused by spas-
ticity in patients with thoracic lesions.215 However, this
treatment is indicated only for patients with no voluntary
lower extremity function and in whom symptoms of spas-
ticity cannot be controlled with lower extremity bracing or
surgery.
Urologic Treatment
Bladder paralysis and its attendant medical and social prob-
lems are significant issues for affected children and their
families.‖b
Bladder paralysis is almost universal in the myelomenin-
gocele patient population.169,194 At birth, this paralysis is
usually flaccid, manifesting as uncontrolled constant drib-
bling of urine. Uncontrolled, spasmodic bladder contrac-
tions and bladder neck obstruction commonly develop and
can produce overflow dribbling, a smaller, less compliant
bladder, and vesicoureteral reflux. Hydronephrosis results,
with risk of injury to the renal parenchymal tissue from
urinary obstruction or an exacerbating upper urinary tract
infection.306 Lower urinary tract infections are also fre-
quent. In the past, chronic renal failure or fulminant infec-
tions of the urinary tract were the most common causes of
delayed mortality in patients with myelomeningocele.
The goals of urologic management are to make these
patients continent, keep them free of lower and upper
urinary tract infection, and preserve renal function. The
mainstay of management is to teach caretakers—and ulti-
mately the patients themselves—the technique of clean
intermittent catheterization.¶b
Such a program can help prevent the development of
hydronephrosis and maintain bladder compliance and capac-
ity. Instituting a clean intermittent catheterization program
before 1 year of age may result in fewer patients requiring
bladder augmentation to correct loss of bladder compli-
ance.310,362 Total continence has not been achieved in most
adult studies, but a reduced need for pads and preservation
of upper urinary tract function may result from clean inter-
mittent catheterization. Patients also need routine evalua-
tion of the lower urinary tract for evidence of infection,
reduced bladder compliance and capacity, and hydrone-
phrosis. Screening examinations, consisting of voiding cys-
tometrography and renal ultrasonography performed every
6 to 12 months, suffice for most patients. Abnormalities
may require more thorough urodynamic investigation.
The surgical treatment of spinal deformities may influ-
ence urinary tract management or function. In one study,
eight of nine patients who underwent cordectomy with
kyphectomy had improved bladder compliance and capacity
postoperatively, but the ninth patient had poorer function
secondary to the development of bladder spasticity, requir-
ing surgery.161 In another study, 6 of 16 patients who under-
went spinal surgery had urologic problems postoperatively,
including one female patient who could no longer self-
catheterize because of a change in body posture.32 Thus
patients undergoing major spinal procedures should have a
‖b
References 33, 153, 169, 171, 172, 194, 231, 266, 344.
¶b
References 33, 153, 169, 171, 172, 194, 266, 344, 362.
CHAPTER 36  Disorders of the Spinal Cord e139
baseline urologic evaluation, with postoperative reevalua-
tion as necessary.
Orthopaedic Treatment
Goals of Orthopaedic Management
Orthopaedists participating in the care of children with
myelomeningocele are members of the health care team
seeking to maximize function and minimize disability and
illness. Over time, the specific goals change, based on the
child’s needs and abilities and changes in neurologic status.
One of the major goals of the orthopaedist is to correct
deformities to help patients meet their maximal functional
capability. Almost all patients need orthoses to replace
muscle strength and joint stability so that they can stand
and walk. Regardless of the extent of the deformity and
paralysis, it is possible for most children to walk at a young
age with a combination of deformity correction, bracing,
upper extremity aids, and instruction. Thus one of the
primary functions of the orthopaedist is to correct lower
extremity deformities that prevent the patient from using
orthoses to ambulate during childhood. Many patients, espe-
cially those with thoracic or upper lumbar paralysis, will be
unable or unwilling to maintain the same level of indepen-
dent ambulation as adolescents or adults because the extent
of bracing and energy consumption required for ambulation
will be too great. Patients with myelomeningocele should
be prepared for independent, self-sufficient living, which
means that they should not be devoting a substantial portion
of their energy solely to walking for its own sake. Excessive
emphasis on ambulation over the use of a wheelchair may
even adversely affect academic achievement.104
The orthopaedic surgeon must monitor spinal balance
and deformity in the myelomeningocele patient. There is a
high incidence of congenital and neurologically related sco-
liosis and kyphosis, conditions that can jeopardize posture
or sitting comfort or increase the likelihood of the develop-
ment of pressure sores.
Finally, the orthopaedic surgeon must assist in monitor-
ing the neurologic status of the growing patient because
hydrocephalus, hydromyelia, or tethered cord syndrome
secondary to diastematomyelia or another anomaly or to
scarring at the original level of myelodysplasia can occur.
Any of these conditions can result in a subtle deterioration
in the patient’s intellectual function and upper or lower
extremity function.
In an effort to help orthopaedic surgeons understand
what is required to achieve treatment goals for this complex
disorder, experts from around the world convened in a
symposium in 2000. The discussions from that meeting
were published in a comprehensive report from the Ameri-
can Academy of Orthopaedic Surgeons describing the many
facets of the orthopaedic care of children with spina
bifida.284a
Physical and Radiographic Examination
of the Newborn
When examining a newborn with myelomeningocele for the
first time, the goal of the orthopaedic surgeon is to identify
the level of paralysis for each extremity and screen for
associated deformities. Sphincter control, the presence of
hydrocephalus, and the condition of the myelomeningocele
e140 SECTION VI  Neuromuscular Disorders
sac are also important to note. Commonly, the orthopaedist
is consulted after closure of the sac and shunting for hydro-
cephalus. The infant should be examined in a quiet warm
environment to allow the best assessment of joint range of
motion, sensory preservation, and evidence of spinal defor-
mity. A stimulated or crying infant, however, allows the
examiner to appreciate the child’s voluntary lower extrem-
ity muscular function better. Sharrard described the neuro-
segmental function of the lower extremity,295,298 and this
root by root assessment has become the standard for
describing lower extremity function and the basis for estab-
lishing a prognosis for long-term ambulation and the nature
of secondary deformities likely to develop during childhood.
The level of spinal cord lesion as visualized on prenatal
ultrasonography has been positively correlated with the
level of postnatal paralysis noted on physical examination,
so if this information is available, it may be helpful.60
Caution is advised, however, because determining the
precise level of function can be difficult, and the level may
change over time, may be asymmetric, or may not corre-
spond exactly to Sharrard’s neurosegmental scheme.204,212,213
In a longitudinal serial evaluation of 308 patients older than
5 years, McDonald and colleagues found that quadriceps
strength correlated with iliopsoas strength, medial ham-
string function could be present without tibialis anterior
function, gluteus medius and maximus strength correlated
strongly with each other and with tibialis anterior strength,
and muscle weakness was most frequently noted in the
gastrocnemius-soleus group.213
During the examination, the orthopaedist should first
develop a sense of the child’s overall vigor because lack of
vigor may suggest CNS depression caused by untreated
hydrocephalus. Whenever expedient, the examiner should
turn the infant prone on the mother’s lap, an examining
surface, or the palm of the examiner’s hand to determine
at what level the myelodysplastic deformity is located, its
extent, and the state of the skin overlying it, especially if
the examination is being conducted after neurosurgical
closure of the myelodysplastic lesion. The infant should also
be assessed for obvious spinal deformities or congenital
scoliosis or kyphosis associated with the myelodysplastic
lesion. The examiner then looks for more subtle evidence
of spinal dysraphism at other levels—specifically, for discol-
oration or hemangiomas, hairy patches, or dimpling along
the spinal column remote from the obvious myelodysplastic
lesion. The entire spinal column is palpated, with the exam-
iner looking for curvature or defect.
With the child supine, neck mobility and upper extrem-
ity formation and function are assessed; these are generally
normal in the myelomeningocele patient. Next, the exam-
iner visually inspects the posture of the lower extremities,
which provides a clue to the extent of the paralysis. For
example, a child with a thoracic level lesion most often lies
supine with the legs in a flopped open, frog-leg position,
with no spontaneous movement. Patients with lower levels
of paralysis exhibit spontaneous movement of the lower
extremities; if necessary, the examiner can stimulate the
child to observe such movement. Specifically, the examiner
should look for hip flexion and adduction, knee extension
and flexion, and ankle dorsiflexion and plantar flexion. A
note of caution is in order, however, because observed toe
movements should not be taken as indicative of volitional
control of the digits, and movement of the toes usually
results from root sparing below the myelodysplastic lesion
and is not under volitional control. The examiner should try
to assess the level of preservation of sensation by gently
stroking the skin, beginning distally, and observing the
infant’s facial and lower extremity muscular response. The
examiner checks for the usually obvious foot deformities,
such as clubfoot and vertical talus. Range of motion of the
hips is assessed, with specific noting of abduction, adduc-
tion, external rotation, and/or flexion contractures. The
hips are also assessed for concentricity and stability. Knee
flexion contractures and their extent should be documented.
The examiner strokes the patient’s legs on both sides indi-
vidually, from distal to proximal, by dermatome, to identify
the level of sensory preservation. Finally, the examiner
checks for the almost invariably present patulous anus and
urinary dribbling, suggesting bowel and bladder paralysis.
The physical examination should be supplemented with
good anteroposterior and lateral radiographs of the entire
spine. These radiographs should be carefully inspected for
the level of the last closed posterior element, any congenital
spinal deformity (particularly one remote from the myelo-
dysplastic level), and pedicular widening, especially with
associated congenital vertebral anomalies, which may
suggest underlying diastematomyelia. In general, the level
of paralysis noted on physical examination should corre-
spond to the first open level of the spine; however, there
may be a substantial discrepancy between these two find-
ings, which suggests that other deformities of the spinal
cord or proximal CNS are contributing to the paralysis.
Ultrasonography or MRI of the spinal cord may be indicated
in these cases. In general, radiographs of the lower extremi-
ties merely confirm what has been determined from the
physical examination. Ultrasonography can clarify the rela-
tionship of the femoral head and acetabulum if the clinical
examination of the hip is not definitive.
This examination provides the orthopaedic surgeon with
a good understanding of the lower extremity anomalies,
extent of lower extremity paralysis, and presence of verte-
bral anomalies that need to be monitored with growth. The
sum of these findings allows the surgeon to provide the
patient’s parents with a reasonable outline of what will be
required to correct the deformities and what they should
expect in the future in terms of bracing needs and mobility
expectations.
Periodic Assessment
Patients with myelomeningocele require periodic reassess-
ment throughout growth, usually on a semiannual or annual
basis. These assessments are typically carried out in a mul-
tidisciplinary clinic; this reduces the number of physician
visits for the patient and family and allows the health care
team to provide a comprehensive evaluation and coordi-
nated treatment plan when interventions are required.
Within this complex screening and treatment program, at
each routine visit, the orthopaedist assesses whether the
following are present:
1. The child’s motor and sensory function have remained
stable.
2. The child’s mobility and bracing needs have remained
stable.

3. Orthoses and upper extremity aids are appropriate to the
patient’s requirements, provide the desired effect of
maximizing mobility, are in good repair, and are not
causing any undue pressure points on the patient’s lower
extremities.
4. The range of motion of the patient’s lower extremity
joints is stable and sufficient to allow the patient
maximum mobility based on preserved motor strength.
5. The patient’s upper extremity function is stable.
6. Spinal deformity is stable or absent.
7. The patient’s skin is in good condition over the spinal
deformity, in the perineal and ischial areas, at pressure
points under orthoses, and over the knees and around
the feet, where abuse of the skin may occur with crawl-
ing, walking, or swimming without braces or other
protection.
These evaluations may be accomplished with the aid of
a nurse, pediatrician, therapist, and orthotist. Periodic
radiographic assessment of the spine and hips is often
required as well; it is rare that a patient has no evidence of
spinal or hip deformity on physical examination.
Surgical Management of Specific Orthopaedic
Problems
Foot and Ankle Deformities
Congenital and developmental foot deformities are common
in children with myelomeningocele.41,86,110,251,300 Calcaneal
deformity is the most common, followed by equinus, valgus
deformity, clubfoot, and vertical talus. Foot deformities
often interfere with effective bracing for ambulation or lead
to pressure sores in ambulatory patients. Broughton and
colleagues41 found that acquired deformities could not be
accounted for solely by spasticity or muscle imbalance.
Even nonambulatory patients have concerns about the cos-
metic appearance of the feet and experience difficulty
wearing normal shoes.
In general, foot deformities in an infant should undergo
a trial of gentle passive manipulation, with care taken to
avoid pressure sores and fractures. Even with early correc-
tion, recurrence is common, and surgery is ultimately
needed on most feet. When required, it is important that
surgical correction be delayed until the child is develop-
mentally ready to be in the upright position. Proceeding
with surgery for foot deformity before the patient is ready
to be fitted with orthoses for standing or walking risks
recurrence before the child even begins to walk. Early
recurrence of the deformity can be minimized by ensuring
that after the removal of postoperative casts, well-fitting
orthoses are immediately available for use day and night,
and the child should be encouraged to stand or walk in
them.
Equinus
Pure equinus contractures in patients with myelomeningo-
cele are common.41,110,300 They are not caused by voluntary
muscle imbalance, however, because most patients have flail
feet or, in patients with low lumbar lesions, tibialis anterior
functioning. Positioning deformity, in utero or postnatally,
and gastrocsoleus spasticity account for some of the equinus
contractures seen and, in some patients, equinus develops
CHAPTER 36  Disorders of the Spinal Cord e141
after tibialis anterior tendon transfer to the calcaneus (see
later, “Calcaneal Deformity”).
Patients with positional neonatal equinus contractures
associated with higher level paralysis can initially be treated
with extremely gentle passive manipulation. If the equinus
deformity persists when the child is ready for orthoses for
standing and ambulation, percutaneous release or open
lengthening of the heel cord can be carried out. Percutane-
ous heel cord lengthening can be performed in the outpa-
tient clinic if the patient is insensate in that area. Some
patients have long toe flexor contractures as well, which
should be divided. Otherwise, persistent toe flexion defor-
mities can result in pressure sores on the ends of the toes
when the child is placed in shoes. Careful postoperative
casting for a few weeks should be followed by the fitting of
orthoses required for standing or ambulation.
Equinovarus
Clubfoot deformity is a common anomaly in patients
with myelomeningocele, irrespective of the level of
myelodysplasia.#b
This deformity in myelomeningocele patients is truly
teratologic in that the deformity is almost always rigid, with
less propensity to respond to conservative treatment,
requires extensive surgery to correct, and is likely to recur,
even after excellent correction combined with resection of
the tendons that would presumably be the source of
recurrence.*c
Patients with myelomeningocele and clubfoot deformity
can initially be managed in a similar manner as other patients
with idiopathic clubfoot deformity (see Chapter 23).
However, the treating physician should be very experienced
and comfortable with manipulation and casting techniques
because absence of the pain response or of protective sensa-
tion makes it difficult to avoid pressure sores or fractures.
One recent report noted favorable results with use of the
Ponseti method to treat clubfeet associated with myelome-
ningocele. However, despite excellent initial correction, the
authors noted relapse in 68% of patients with spina bifida
and a need for comprehensive soft tissue release in 14% of
patients, four times more frequent than idiopathic
patients.121 Because crawling with the feet dragged behind
and rotated internally creates a deforming force that pro-
motes recurrence, surgery should not be performed before
patients have reached the developmental milestone of
pulling to a stand.
When nonoperative or minimally invasive techniques
fail, extensive release is often required, and ancillary
procedures such as lateral column shortening are required
much more frequently than in patients with idiopathic
clubfeet. In patients with lower lumbar lesions, the tibialis
anterior tendon may be lengthened or transferred to the
midline or heel (see later, “Calcaneal Deformity”). In
patients with upper lumbar or higher lesions, tendons are
frequently resected rather than lengthened. Only in patients
with almost complete preservation of lower extremity func-
tion is typical tendon lengthening performed rather than
resection. Furthermore, much as in patients with arthrogry-
posis, myelomeningocele-related clubfeet may require
#b
References 21, 41, 71, 78, 86, 110, 251, 292, 300, 302, 351.
*cReferences 21, 41, 71, 78, 110, 199, 257, 292, 300, 302.
e142 SECTION VI  Neuromuscular Disorders
naviculectomy, talectomy,78,167,292,302,303 or talar enucleation
(Verebelyi-Ogston procedure)111 to achieve correction.
Infrequently, in the most severe deformities, bringing the
foot into a corrected position may cause vascular compro-
mise, requiring combining clubfoot correction and tibial and
fibular shortening. Difficulty with wound closure is common,
and rotational flaps have been described for primary closure
of the surgical incision.351 I have found, however, that it is
most effective to leave the wound open as much as neces-
sary with the foot in the corrected position, provided that
circulatory status is not impaired in that position, and to
change the cast or window it for dressing changes. An alter-
native is to close the skin loosely and bring the foot into a
corrected position with a few cast changes in the first 2
weeks after surgery. Inadequate skin coverage for surgical
correction of recurrent clubfoot deformities has been
addressed with the preoperative use of soft tissue expand-
ers, but with only limited success (in two of seven cases).21
Postoperative casting must be meticulous, as described
earlier. Excessive swelling, erythema, or systemic reaction
must be investigated by removing the cast and inspecting
the foot. Wound necrosis and pressure sores are frequent,
even with casting by the most experienced and attentive
of surgeons, and families should be so warned. Bracing of
at least the foot is required indefinitely after cast removal,
so the surgeon should ensure that the required orthoses
are ready to be applied when the cast is removed. The
postoperative casting protocol may be shortened in favor of
braces compared with that in patients with idiopathic
clubfeet.71,101,300
Recurrence of deformity can be treated by primarily
bony procedures, including midfoot and forefoot osteoto-
mies, talectomy, or triple arthrodeses78,199,292,302,304 When
using these procedures, the surgeon must be careful to
obtain even weight-bearing forces to minimize the predis-
position to the development of neurotrophic ulcers. A varia-
tion of equinovarus deformity may be seen in patients with
lower lumbar paralysis with a functioning anterior tibialis.
In some of these patients, a deformity consisting of primar-
ily forefoot dorsiflexion and supination gives the impression
of a deformity caused solely by the unopposed action of the
tibialis anterior or a very mild clubfoot. In infants with such
a deformity, posterior or lateral transfer of the tibialis ante-
rior alone may not correct all components of the deformity,
and a limited posteromedial release is often required as
well.
Calcaneal Deformity
Calcaneal deformity may be seen as a birth contracture or
as a delayed deformity secondary to the unopposed action
of the tibialis anterior in patients with paralysis at the lower
lumbar level.†c
Not all developmental calcaneal deformities can be
explained solely on the basis of muscle imbalance or spastic-
ity.41,110 Calcaneal deformity of the foot may make the
fitting of orthoses more difficult and less effective, and it
predisposes patients to the development of neurotrophic
heel ulcers. The latter can be difficult to eradicate and may
progress to recalcitrant calcaneal osteomyelitis (Fig. 36-7).
Patients with progressive calcaneal deformity or those with
†c
References 17, 30, 41, 106, 110, 120, 175, 300, 343.
FIGURE 36-7  Calcaneal foot deformity in a patient with a low
lumbar level myelomeningocele. In addition to making bracing
difficult, this deformity places the patient at risk for the
development of neurotrophic ulceration of the heel and calcaneal
osteomyelitis.
a propensity toward ulcer development can be treated surgi-
cally to prevent this from occurring. In one study, a delay
in surgical treatment of this deformity resulted in a tenfold
increase in the prevalence of calcaneal ulcers, from 3% to
30% of ambulatory patients.106
Patients with mild calcaneal deformities from birth, with
the possible exception of those with tibialis anterior–sparing
involvement, may respond to gentle passive stretching of
the foot into plantar flexion and splinting in a neutral,
weight-bearing position. Patients with persistent or progres-
sive calcaneal deformities associated with unopposed tibialis
anterior function frequently require anterior release of the
deformity, usually combined with posterior transfer of the
tibialis anterior to the calcaneus to facilitate brace fitting
and prevent the development of calcaneal plantar ulcers.‡c
The transfer is not performed if this muscle is spastic.
The tibialis anterior muscle transfer procedure is described
in Plate 36-1. A few important points should be made with
regard to this surgery. First, in patients with low lumbar
lesions, a posterior transfer performed in the hope of pro-
viding enough ankle stability to make braces unnecessary
usually does not succeed; AFOs continue to be needed for
maximum mobility.324 Second, the transfer should be posi-
tioned with the foot in a neutral position and, postopera-
tively, the foot should be immobilized in a neutral position
in a cast, not in equinus. If the foot is positioned in a plantar-
flexed position, the patient may sustain a distal tibial meta-
physeal fracture after cast removal when the foot is
dorsiflexed with weight bearing. Finally, excessive tighten-
ing of the transfer in equinus may result in the development
of an equinus deformity that requires release, particularly
when the transferred tibialis anterior is not under volitional
control.
‡c
References 17, 30, 106, 120, 262, 276, 300, 343.

FIGURE 36-8  Valgus deformity at the ankle in myelomeningocele.
This deformity may lead to ulceration over the medial malleolus or
head of the navicular from rubbing against the ankle-foot
component of the patient’s orthosis.
Vertical Talus
Congenital vertical talus occurs with greater frequency in
patients with myelomeningocele than in the general popula-
tion, although it is much less common than clubfoot and
other deformities of the foot.41,110,300 The manipulative
treatment discussed for the management of vertical talus in
Chapter 2382 may be used in patients with myelomeningo-
cele. However, the treating surgeon must be cognizant of
the increased likelihood of pressure sores and recurrence
of deformity. Patients with vertical talus and spina bifida
usually require surgical correction, which is the same as for
any patient with congenital vertical talus (see Chapter 23).
The principles of timing and postoperative management
raised in the discussion of clubfoot in patients with myelo-
meningocele apply here as well. Specifically, surgery should
be delayed until the patient is neurodevelopmentally ready
for orthoses and ambulation. Postoperative casting must be
meticulous and hold the foot in a neutral functional posi-
tion, and bracing and weight bearing should be instituted as
soon as the casts are removed.
Valgus Deformity of the Foot and Ankle
Valgus deformity at the ankle is a common deformity in
ambulatory patients with myelomeningocele, irrespective of
the level of paralysis.§c
The deformity may arise from the distal tibia, the sub-
talar joint, or both193 and may be compounded by an exter-
nal rotation deformity of the tibia. The most common
sequela of this deformity is skin irritation or breakdown
over the medial malleolus from excessive pressure against
the orthosis (Fig. 36-8). Important considerations for the
§c
References 1, 9, 15, 41, 44, 86, 110, 300, 301, 322, 358.
CHAPTER 36  Disorders of the Spinal Cord e143
orthopaedic surgeon include determining the precise loca-
tion of the clinical valgus (ankle or subtalar), ascertaining
whether the patient is skeletally mature and, if immature,
approximately how much growth remains in the distal tibia,
and deciding whether the extent of deformity requires
immediate correction because it is unbraceable or whether
more gradual methods of correction can be used. Thus
assessment requires a physical examination of the patient,
consultation with an orthotist regarding the interim man-
agement of medial malleolar pressure areas, and anteropos-
terior radiographs of the ankle to determine the source of
the valgus and state of the physis. In skeletally immature
patients, a scanogram and radiographs of the hand and wrist
for estimation of bone age may be necessary to assess how
much growth remains in the distal tibia if distal tibial epi-
physiodesis techniques are being considered.
Distal Tibia. Surgical options for the management of distal
tibial valgus deformities include distal tibial and fibular oste-
otomy,1,193,301 distal tibial medial hemiepiphysiodesis or
growth tethering with implants such as staples, screws, and
plates,44,193 and Achilles tendon–distal fibular tenodesis.322
A distal tibial valgus deformity that causes pressure sores
and cannot be corrected by adjustment of orthoses or such
a deformity in a skeletally mature patient requires a distal
tibial osteotomy and varus realignment (Fig. 36-9). Skele-
tally immature patients with deformities that are progres-
sive but not in need of immediate correction are candidates
for medial tibial hemiepiphysiodesis or Achilles tendon–
fibular tenodesis. The medial growth arrest may be affected
by direct curettage, stapling of the medial side of the distal
tibia, or insertion of a fully threaded screw percutaneously
from the medial malleolus proximally across the physis. An
Achilles tendon–fibular tenodesis is indicated for young
patients with mild distal tibial valgus deformities who are
considered too young for an epiphysiodesis of the distal
tibia.
Distal Tibial Osteotomy. Fixation may be done with
crossed Steinmann pins, staples, external fixator, or internal
fixation with a dynamic compression plate. This osteotomy
may be complicated by delayed union, nonunion, or infec-
tion, particularly in adolescents. Recurrence of the defor-
mity is also relatively common in skeletally immature
patients. Postoperatively, patients should be kept non–
weight bearing initially because weight bearing with dimin-
ished pain perception can lead to excessive swelling and
motion. Patients should also be counseled not to crawl in
postoperative casting. If possible, the knees should not be
flexed excessively in long-leg casts because this can cause
rehabilitation difficulties after cast removal.
Distal Tibial Medial Hemiepiphysiodesis. If the patient
is skeletally immature, with a deformity that does not
demand full and immediate correction, a medial hemiepi-
physiodesis can be considered. The medial tibial physis can
be closed with direct surgical ablation, stapling,44 or inser-
tion of a medial malleolar screw.321 The advantages of this
technique are that immediate weight bearing is usually
allowed and external immobilization is not necessary.
Achilles Tendon–Fibular Tenodesis. Stevens and Toomey
described the tenodesis of a portion of the Achilles tendon
to the distal fibula above the distal fibular physis.322 Their
rationale was that the valgus deformity is secondary to
e144 SECTION VI  Neuromuscular Disorders
FIGURE 36-9  Distal tibial osteotomy
for ankle valgus. A, Preoperative
radiographic appearance.
B, Postoperative radiographic
appearance. Note displacement of the
distal fragment laterally to prevent
excessive prominence of the medial
malleolus. The fibular osteotomy should
be placed as distally as possible to
prevent excessive prominence of the
distal fragment on the lateral side of the
A B
ankle.
lateral compartment paralysis, with subsequent underdevel-
opment of the fibula, and that this lack of growth stimula-
tion can be compensated for by tenodesis of a slip of the
Achilles tendon to the fibula. With weight bearing and ankle
dorsiflexion, the tenodesis pulls downward on the fibula,
leading to gradual correction of the deformity. The surgical
procedure is outlined in Plate 36-2. Similar to distal tibial
hemiepiphysiodesis, this procedure is indicated for skele-
tally immature patients with progressive deformities that
do not yet require complete correction. It is particularly
well suited for younger patients in whom hemiepiphysiode-
sis is not appropriate.
Subtalar Joint. When radiographs reveal that most of the
valgus deformity is in the subtalar region, treatment should
consist of subtalar arthrodesis, with internal fixation across
the subtalar joint and extraarticular iliac crest bone graft-
ing.9,15 Cautioned is advised, however, because fusions in
the foot, even when clinically plantigrade, predispose the
patient to neurotrophic ulcers over the long term.199 Thus
triple arthrodeses and subtalar fusions should be avoided
whenever possible. An alternative to subtalar arthrodesis
may be to use a medial displacement osteotomy of the
calcaneus.338
Rotational Deformities (Internal or External)
Rotational deformities of the lower extremities are frequent
in ambulatory and nonambulatory patients.77,91,108,361 In non-
ambulatory patients and in most ambulatory patients, the
problem is largely cosmetic. Extreme internal rotation may
interfere with ambulation if the child is catching his or her
foot on the contralateral extremity during swing. Internal
rotational deformities are usually dynamic, secondary to
medial hamstring dominance, or fixed, secondary to internal
tibial torsion. When a dynamic internal rotational deformity
is interfering with gait, Dias and associates reported good
results with transfer of the semitendinosus to the biceps
and head of the fibula,77 but I have no experience with this
procedure. Internal tibial torsion can be treated by rota-
tional osteotomy. I prefer to perform a tibial osteotomy
distally with fixation with crossed Steinmann pins or a
dynamic compression plate.
Marked external rotation, in addition to being cosmeti-
cally displeasing, may indirectly interfere with ambulation
by making the fit or function of the AFO component of
bracing more difficult.91,347 The external rotational defor-
mity places the medial malleolus in the line of progression
of the limb and may lead to constant skin breakdown from
rubbing against the AFO. This problem is aggravated if there
is valgus deformity of the ankle or hindfoot as well. In addi-
tion, the calcaneus-preventing action of the orthosis, par-
ticularly a ground reaction orthosis, may be rendered
ineffective if the external rotational deformity moves the
foot sufficiently out of the line of progression of the patient’s
gait (Fig. 36-10). An external rotational deformity may
come from the hip but is usually found in the tibia. Treat-
ment consists of internal rotational osteotomy of the
affected segment (usually the tibia), which Vankoski and
co-workers believe should be considered when external
torsion exceeds 20 degrees.347
The surgeon must carefully assess the nature of the
patient’s gait and extent to which the deformity should be
corrected before recommending rotational osteotomy.
Patients who ambulate with little knee motion—that is,
who advance their limbs primarily by hip flexion or adduc-
tion with the hip externally rotated (typical of patients with
upper lumbar level paralysis)—will have difficulty clearing
a foot in swing that points directly in the line of progression.

FIGURE 36-10  Extreme external tibial rotation takes the foot out
of line in terms of gait progression, making stabilization of the
foot and ankle for weight bearing in an ankle-foot orthosis
ineffective.
In these patients, the external rotational deformity should
not be corrected if no gait or bracing problems are present.
If rotational osteotomy is undertaken, the surgeon should
aim to have the angle of foot progression in a more accept-
able position of external rotation. Satisfactory results with
distal tibial osteotomy have been reported in 80% to 90%
of cases.77,108 However, significant complications have been
reported and include delayed union (averaging 6 months to
union), wound infection, and persistent swelling.108 Note
that I do not recommend a rotational osteotomy of the tibia
in a patient with myelomeningocele without a serious con-
sideration of the potential sequelae weighed against the
extent to which the rotational deformity is creating prob-
lems for the child.
Knee Deformities
The knee is not prone to many congenital anomalies in
patients with myelomeningocele and is a surprisingly hardy
joint in these young patients. However, long-term studies
in ambulatory patients with low lumbar or sacral lesions
suggest that knee instability, with or without pain, is present
in about 25%.357
Congenital Knee Flexion Contracture. Patients can be born
with flexion contractures of the knee. Flexion contractures
of less than 10 degrees resolve by the time the patient is
ready for ambulation, spontaneously or with judicious
passive stretching, even when the patient has no motor
function across the knee. Knee flexion deformity may recur,
particularly in patients with higher levels of paralysis.361
Congenital Knee Hyperextension or Dislocation. Congeni-
tal knee hyperextension or dislocation may also occur in
patients with myelomeningocele, usually in those carried in
the full breech position. Simple hyperextension deformity
may respond to careful passive stretching and splinting.
Congenital knee dislocation requires surgical treatment.
CHAPTER 36  Disorders of the Spinal Cord e145
This should be performed well before the child reaches
walking age so that the postoperative knee-flexed position
can be resolved before orthoses are required for ambulation.
In patients with myelomeningocele, treatment of congenital
knee dislocation usually results in some extension contrac-
ture, persistent hyperextension at the knee, or multiplanar
instability. The treatment of congenital knee dislocation is
discussed further in Chapter 21.
Developmental Knee Flexion Contracture. In ambulatory
and nonambulatory patients, knee flexion contractures can
occur during growth. The development of these contrac-
tures does not appear to correlate with ambulatory status,
level of paralysis, or presence of spasticity.360,361 Normally,
knee flexion deformities of 20 degrees or less are well toler-
ated in ambulatory patients, with or without bracing across
the knee; nonambulatory patients can usually tolerate even
more flexion contracture without interference in mobility
status or transfers. If greater deformity is present, careful
thought must be given to the patient’s ambulation level and
extent to which ambulation is being impeded by the flexion
contracture. Contractures that interfere with ambulation or
transfers may be treated with radical knee flexor release76,196
or anterior distal femoral hemiepiphysiodesis.312
Knee Extension Contracture. Another common problem is
extension contracture, although it is not as common as one
might expect based on the number of patients with at least
some quadriceps function but no hamstring function. The
deformity is most often a consequence of quadriceps spas-
ticity but may also be seen following extensive bracing or
other immobilization in extension, surgical treatment for
flexion contractures, or congenital knee dislocation. Exten-
sion contractures generally do not interfere with bracing or
ambulation, but are difficult for patients to cope with in the
sitting position and can impede independent sit to stand
transfers. In ambulatory patients, observation is usually the
wisest course. When extension contractures are problem-
atic in ambulatory patients, a V-Y quadricepsplasty is effec-
tive.76 In nonambulatory patients, adequate flexion can
usually be gained by simple transection of the patellar
tendon.282 Intraarticular release is generally not required.
With either procedure, the patient should be immobilized
in knee flexion only as long as necessary for the soft tissues
to heal. This should be followed by a program of daily gentle
passive and, if possible, active range-of-motion exercises of
the knee.
Knee Instability or Internal Derangement. Patients with
myelomeningocele frequently present with unexplained
swelling of the knee. The surgeon must first ascertain that
there is no infection or intraarticular fracture. If these con-
ditions are excluded, the precise cause of the effusion may
be difficult to determine. Usually, the problem is synovial
irritation from multiplanar instability or excessive move-
ment of the knee, which frequently develops in adult
patients.357 Patients who are ambulatory with AFOs should
probably be converted to KAFOs, at least temporarily, to
protect the knee. The physician and parents should also
review the patient’s activities, looking for those that might
be placing undue stress on the knee (e.g., incautious trans-
fers, aggressive activities out of orthoses). One study found
e146 SECTION VI  Neuromuscular Disorders
that the use of KAFOs did not provide protective benefit
to the knee in patients who were able to ambulate effec-
tively in AFOs alone.170 Thus, in general, patients who
ambulate effectively in AFOs should not be prescribed
KAFOs solely in the hope of preventing long-term instabil-
ity of the knee.
Hip Deformities
No aspect of the orthopaedic management of patients with
myelomeningocele is more controversial than the proper
management of the hip joint.‖c
Specific deformities encountered include abduction or
external rotation contractures, hip flexion contractures,
developmental dysplasia of the hip present at birth, and
progressive paralytic subluxation and dislocation of the
hip, usually with attendant hip flexion and adduction
contractures.
Abduction or External Rotation Contracture. This defor-
mity, which may be congenital or developmental, is typically
seen in patients with thoracic and upper lumbar lesions.
Occasionally, it develops from poor positioning and passive
manipulation of the lower extremities, with the patient’s
limbs always remaining in a position of flexion, abduction,
and external rotation. Initial management consists of gentle
passive manipulation that draws the limbs into a position of
neutral hip flexion, adduction, and internal rotation. A
deformity that persists when the child is neurodevelopmen-
tally ready for upright positioning with braces should be
treated surgically. Release of the tensor fasciae latae, rectus
femoris, sartorius, and anterior fibers of the gluteus medius
and minimus muscles from the anterior and lateral pelvis
usually achieves neutral positioning of the hips. Postopera-
tively, the lower limbs are maintained in a neutral position
with a removable, narrow, foam adduction splint or by
wrapping the legs together in elastic bandages. The parents
are taught how to perform gentle passive manipulation of
the hips to maintain the child’s ability to bring the hips into
neutral adduction, extension, and internal rotation as soon
as the wound has healed adequately. Although uncommon,
infection, heterotopic bone formation, hip subluxation or
dislocation, femoral fracture, and recurrence of deformity
are complications associated with this procedure. Parents
and therapists should have a clear understanding that the
purpose of this release is to achieve upright positioning and
ambulation with hip-knee-ankle-foot orthoses (HKAFOs)
and upper extremity aids. These patients typically choose
wheelchairs as their predominant method of mobility in
adolescence and adulthood.
Flexion Deformity. Pure hip flexion deformity is usually
seen in conjunction with hip subluxation or dislocation (see
later), secondary to involuntary hip flexion or spasticity
(often with knee flexion contracture as well), or as a simple
contracture from unopposed preserved hip flexor power. In
an ambulatory patient who requires only KAFOs, the con-
tracture usually does not require release or extension
‖c
References 5, 10, 18, 22, 42, 46, 47, 54, 61, 66, 80, 87, 89, 96, 97,
105, 107, 115, 131, 137, 142, 146, 166, 186, 212, 214, 223, 224,
226, 245, 268, 291, 295, 303, 305, 311, 323, 328, 329, 339, 354,
359.
osteotomy for its own sake. However, if the patient also has
a troublesome knee flexion contracture, greater hip exten-
sion may be desirable to aid in the patient’s postoperative
management. Nonambulatory patients usually are not trou-
bled by hip flexion contractures. Patients who remain good
walkers with HKAFOs are the main candidates for treat-
ment. Usually, a patient in a brace can accommodate 20 to
30 degrees of contracture, with the necessary modifications
made by the orthotist. When the deformity is greater than
this, hip flexor release or, rarely, extension osteotomy of the
proximal femur, should be carried out.61 Frawley and col-
leagues109 achieved good outcomes in 43 of 57 hips after
hip flexor release at 9-year follow-up; in this study, 10 had
a poor outcome (>30-degree flexion contracture) and 4 had
contracture recurrence. The success of the procedure was
not correlated with the patient’s age or neurologic level, but
did correlate with walking ability. A subluxated or dislo-
cated hip does not seem to influence the final outcome.61
Paralytic Hip Subluxation or Dislocation. The most fre-
quent and vexing hip deformity is paralytic subluxation and
dislocation of the hip. The presence of unopposed hip flexor
and adductor muscle function in a growing child, as seen in
patients with upper lumbar lesions and, to a lesser extent,
in those with lower lumbar lesions, leads almost inevitably
to progressive hip subluxation and dislocation.
Controversies in Treatment. The nature of the problem is
perhaps best understood by comparing the treatment of
developmental dysplasia of the hip in patients with myelo-
meningocele with its treatment in neuromuscularly intact
patients. In the latter, a Pavlik harness and closed reduction
are the mainstays of treatment in patients before walking
age. In patients with myelomeningocele, however, because
of the associated muscle imbalance, such reduction is inevi-
tably followed by recurrence of the dislocation because
there is no spontaneous improvement in the structural
femoral and acetabular deformities that contribute to the
dislocation. In myelomeningocele, the muscle imbalance
between intact flexors and adductors and weak or absent
extensors and abductors drives the hip back into a dislo-
cated position, with accentuation of the structural defor-
mity. Therefore, in the rare patient with myelomeningocele
in whom reconstruction of a dislocated or subluxated hip is
considered, all the principles of paralytic hip dislocation
treatment must be followed: (1) obtain a concentric reduc-
tion, usually by means of an open reduction; (2) correct the
bony abnormality (femoral anteversion and valgus, and
acetabular insufficiency, usually posterior) because there is
no propensity for spontaneous correction; and (3) seek to
balance the flexor-adductor, extensor-abductor imbalance
muscle release.
Paralytic hip surgery in myelomeningocele patients is
extensive and involves transfers or muscle releases, which
by their nature result in diminished muscle strength, even
though balance may be achieved. Given the higher inci-
dence of surgical complications in patients with myelome-
ningocele, such as hip stiffness, fracture, and heterotopic
bone formation, along with the natural history of diminish-
ing mobility in these partially paralyzed patients, the reason
for controversy in the treatment of myelomeningocele-
related hip abnormalities is apparent.

Reduction. Based on gait analysis in lumbar myelomenin-
gocele patients with hip dislocation or subluxation, reduc-
tion of the dislocated hip is thought to be unnecessary. The
exception may be children with sacral level lesions and near-
normal function. Gabrieli and associates115 assessed pelvic
and hip kinematics in community ambulators with unilat-
eral hip dislocation or subluxation and found that gait sym-
metry corresponded to the absence of hip contractures or
presence of bilateral symmetric hip contractures, but not to
the presence of hip dislocation. They concluded that hip
reduction was unnecessary. An evidence-based review also
showed that surgery for hip dislocation did not improve
walking ability.359
An increasing number of pediatric orthopaedists who
care for children with myelomeningocele believe that the
indication for surgical treatment of hip dysplasia in patients
with myelomeningocele is progressive subluxation in an
ambulatory patient. For the few patients in whom reduction
is considered, it almost always requires anterior open reduc-
tion with capsulorrhaphy, appropriate muscle releases
(usually psoas and frequently adductors), and femoral and
acetabular osteotomies.
Correction of Bony Abnormality. Correcting the femoral
bony deformity requires a proximal femoral varus osteot-
omy, often with external rotation to correct the associated
femoral anteversion. Acetabular deformity can be corrected
by the Pemberton osteotomy, Dega osteotomy, shelf proce-
dure, Steel triple innominate osteotomy, or Chiari osteot-
omy.5,38,56,195 Most surgeons believe that a Salter innominate
osteotomy is not indicated for myelomeningocele patients
because this osteotomy redirects the acetabulum to face
posteriorly, which is the direction of hip dislocation initially,
and may thus result in recurrent posterior instability. I
prefer to use the Dega75 or periacetabular osteotomy116 to
correct deficient acetabular coverage in patients with
myelomeningocele.
Muscle Balancing Procedures. Broughton and colleagues
reviewed the natural history of hip deformity in 802 chil-
dren with myelomeningocele.42 Hip dislocation had occurred
by age 11 years in 28% of thoracic level patients, in 30% of
upper lumbar level patients, in 36% of patients with L4
functioning, in 7% of patients with L5 functioning, and in
1% of patients with sacral level lesions. Hip dislocation was
not inevitable, even with maximal muscle imbalance about
the hip. Hip flexion contractures were much more common
in patients with thoracic and upper lumbar paralysis than in
those with lesions at other levels. This challenges the
concept of muscle balance restoration as a principal aim in
children with myelomeningocele because the presence and
extent of imbalance are so variable.
Muscle balancing procedures include the following: (1)
simple release of the iliopsoas tendon with adductor release;
(2) posterior transfer of the adductor muscle mass on the
ischium to convert it into more of a hip extensor; (3) trans-
fer of the iliopsoas tendon posterolaterally to convert it to
a hip abductor (Sharrard procedure); and (4) transfer of the
external oblique to the trochanter to recruit a hip abductor
from the anterior abdominal wall.¶c
We have not found that muscle transfers about the hip
result in improved function and believe that the rare patients
¶c
References 42, 46, 146, 186, 295, 297, 303, 323, 366.
CHAPTER 36  Disorders of the Spinal Cord e147
with myelomeningocele who require hip reconstruction can
be treated successfully with capsulorrhaphy and muscle
release combined with appropriate femoral and acetabular
procedures.
Surgical Complications. One of the complications of exten-
sive hip surgery is loss of mobility. This may be exacerbated
if heterotopic bone formation occurs. In nonfunctional or
nonambulatory patients, this loss of mobility can create
significant morbidity; after surgery, they may be unable to
sit comfortably because of inadequate hip flexion or fixed
pelvic obliquity. Taylor reported that resection of the proxi-
mal femur failed in most cases and recommended reposi-
tional osteotomy (i.e., flexion osteotomy) as an alternative
when improved hip positioning is required.331
Summary: Management of Paralytic Hip Subluxation and
Dislocation. The indications for the surgical treatment of
paralytic hip subluxation and dislocation remain controver-
sial and the effectiveness of such surgery is debatable.#c
Applying the relatively successful surgical techniques
used in patients with poliomyelitis without an adequate
understanding of the confounding variables in patients with
myelomeningocele has resulted in excessive hip surgery in
the latter group of patients.96,97,224 Nevertheless, a few select
patients with myelomeningocele may gain from the added
stability of successful hip surgery.6 One of the problems is
that successful surgery of the hip may be difficult to accom-
plish; redislocation, hip stiffness, and loss of active hip
flexion are common complications, and these may actually
make the patient worse.*d
Unfortunately, a review of the literature does not clarify
the indications for surgery, even in good ambulators. Some
authors contend that the patient who is most likely to
benefit from hip stabilization procedures has a low lumbar
lesion, is neurologically stable, and has proved to be an
excellent ambulator.5,166,223 Others have found no difference
in function between low lumbar level patients with dislo-
cated hips and those with surgically stabilized
hips.90,96,97,107,131,305 Some authors believe that unilateral dis-
location in an excellent ambulator strengthens the indica-
tions for hip stabilization to prevent limb length inequality,
pelvic obliquity, and scoliosis.105 Others have found no such
benefit.90,305 Fortunately, hip pain is unusual in myelomenin-
gocele patients, so its prevention cannot be used to justify
surgical reduction or stabilization of the hip.
Issues that are not controversial are that the primary goal
of the orthopaedic surgeon is to maintain flexibility in the
hip, and patients with thoracic and upper lumbar lesions do
not benefit from hip stabilization. Furthermore, there is
rarely, if ever, an indication to perform iliopsoas transfer in
patients with myelomeningocele; those with higher lesions
will not benefit, and those with lower lesions risk the loss
of active and passive hip flexion. I perform surgical treat-
ment of hip dysplasia in patients with myelomeningocele
only when there is progressive subluxation in an ambulatory
patient. Gait analysis studies support this conservative
approach in other patients, noting that surgical reduction of
#c
References 5, 42, 46, 47, 66, 87, 96, 97, 107, 109, 131, 195, 224,
268, 303, 305, 323, 339, 354, 359, 366.
*dReferences 5, 10, 87, 88, 96, 97, 107, 131, 166, 224, 305.
e148 SECTION VI  Neuromuscular Disorders
FIGURE 36-11  Patterns of spinal
deformity in myelomeningocele.
A, Congenital scoliosis. Note the L4
A
hemivertebra. B, Paralytic scoliosis.
myelomeningocele-related hip dislocation does not result in
better ambulatory potential than leaving the hips dislo-
cated.115 In addition, the numerous potential surgery-related
complications can be avoided.
Spinal Deformities
Spinal deformity in patients with myelomeningocele
occurs frequently, can be complex, and often requires
treatment.†d
Deformities can be congenital or acquired, specific to
myelomeningocele or similar to deformities seen in other
conditions. Congenital spinal anomalies include scoliosis
secondary to vertebral malformations, congenital kyphosis
related to posterior dysplasia, and intrathecal anomalies
such as diastematomyelia. Acquired deformities include
idiopathic-like scoliosis, pelvic obliquity–related scoliosis,
and neuromuscular curves secondary to spinal muscle asym-
metry, hydrocephalus, or tethered cord from any cause (Fig.
36-11). Deformities occur with any level of paralysis and
without regard to ambulation ability or history. Problems
created by spinal deformity include unstable skin over the
deformity in the case of kyphosis, pressure sores or interfer-
ence with sitting balance in wheelchair-bound patients, and
pulmonary compromise secondary to compression from the
diaphragm or rib deformity. Although generalizations can
be made, treatment must be individualized, based on the
cause, severity, and risk of progression of the deformity,
the patient’s age and ambulatory status, and the impact of
the deformity on the patient’s well-being.
†d
References 11-13, 16, 27, 32, 48, 49, 57, 83, 92, 93, 95, 112, 119,
128, 135, 140, 149, 173-175, 184, 188, 197, 202, 209, 218-221,
228, 235, 240, 241-243, 259, 263, 270, 274, 286, 296, 315, 316,
317, 319, 337, 341, 352, 353.
B
General Management of the Spine
Radiographic evaluation of the entire spinal column should
be carried out in infants with myelomeningocele, looking
specifically for the presence, location, and severity of
kyphosis, the last level of posterior element closure, and any
evidence of congenital spinal deformity (Fig. 36-12). The
last includes failures of formation or segmentation, as with
any congenital spinal anomaly (see Chapter 12), and pedic-
ular widening or secondary posterior element incomplete-
ness, which may indicate the presence of diastematomyelia.
Routine physical examination and periodic radiographic
screening for evidence of scoliosis should be performed in
all patients with spina bifida because the prevalence of this
deformity is so high.
Congenital spinal deformities are managed as in any
other patient; if the deformity is progressive, local anterior
and posterior spinal fusion is carried out (see Chapter 12).
Progressive neuromuscular (noncongenital) curves are
treated according to their severity, evidence of progression,
and the patient’s skeletal maturity. First, the overall health
of the patient’s neurologic system should be evaluated, par-
ticularly in those with newly evident or rapidly progressive
deformities. Shunt function should be assessed and the
spinal cord evaluated for evidence of tethering, hydromy-
elia, or diastematomyelia. Curves between 25 and 45
degrees in skeletally immature patients may be considered
for total-contact orthoses. Bracing in ambulatory patients
dependent on extensive lower extremity braces, particularly
HKAFOs, can be challenging, but because spinal orthoses
can at least delay the rate of progression of deformity,28,240
they should always be considered; bracing should probably
be recommended for young patients in whom deferral of
spinal fusion is warranted. As for patients with idiopathic
scoliosis, spinal fusion should be considered for curves
greater than 55 degrees unless the patient is a community
ambulator. In this case, spinal fusion to the pelvis should be

FIGURE 36-12  Congenital abnormalities of the spine associated
with myelomeningocele. Spinal dysraphism and congenital
vertebral anomalies are often best appreciated on infant films. In
all infants with myelomeningocele, radiographs of the entire spine
should be obtained and studied for evidence of these deformities.
This radiograph demonstrates opening of the posterior spinal
elements from the L1 level, a hemivertebra at T8, and a butterfly
vertebra at T6.
delayed until the patient becomes largely wheelchair-reliant
or the curve becomes significantly worse.
Patients with myelomeningocele who undergo spinal
surgery are particularly likely to experience peri- and post-
operative complications, making attentive treatment by an
expert health care team essential. Even with such care,
pressure sores, urinary tract infections, wound breakdown,
deep infections, pseudarthrosis, and progression of the
deformity are more frequent than in all other patient popu-
lations with spinal deformities.
Preoperatively, the treating surgeon must ensure that the
patient’s shunt function is stable, there is no ongoing urinary
tract infection, the weight-bearing skin of the pelvis and
upper thighs is free of pressure sores, and the skin over the
portion of the spine to be operated on is healthy. Preopera-
tive assessment should include careful assessment and neu-
rosurgical consultation to assess the potential need for prior
or concurrent detethering of the spinal cord.281
Postoperatively, the wound must be carefully monitored
and promptly attended to if there is evidence of superficial
or deep infection or tissue necrosis. The patient’s urinary
tract must be kept clean. The patient’s perineal skin must
be carefully monitored when the patient resumes sitting—
the load of weight bearing will have changed anatomically
because of the deformity correction, and there is always
some loss of lumbopelvic movement with fixation to the
pelvis, which likely increases the pressure in load-bearing
areas in a sitting patient. Wheelchair seating modifications
should be made in the early postoperative period, prior to
CHAPTER 36  Disorders of the Spinal Cord e149
FIGURE 36-13  Clinical appearance of severe lumbar kyphosis in a
patient with myelomeningocele. The patient sits on the upper
thighs. The skin over the kyphotic area is easily traumatized.
initial postoperative discharge, to lessen the likelihood of
skin problems associated with the change in posture. Finally,
if a patient performs independent transfers with flail or
almost flail extremities, the surgeon must observe these
transfers preoperatively to determine whether fixation to
the pelvis will allow these movements postoperatively. I
encourage one- or two-person assisted transfers for 6 to 8
weeks postoperatively to prevent excessive lumbopelvic
movement through the limbs, which can occur with inde-
pendent transfers. Rarely, a spine-thigh orthosis may be
needed to protect the lumbopelvic junction from excessive
movement during this period.
Kyphosis
Kyphosis of the lumbar spine is a common deformity in
myelomeningocele patients (20% to 46%; Fig. 36-13). They
have been described as paralytic, sharp-angled, and congeni-
tal. Carstens and co-workers found paralytic kyphosis (<90
degrees at birth) to be most common (44%), followed by
sharp-angled kyphosis (≥90 degrees at birth; 38%).48 Both
types of kyphotic curves progress during growth at a rate of
2 to 6 degrees/year.48,83,235 The progression of true congeni-
tal kyphosis was the least common (14%) in Carstens and
colleagues’ series, and progression was variable during
growth.48,83,235 Kyphosis is usually seen in patients with tho-
racic and upper lumbar levels of paralysis. Progressive
kyphosis is usually associated with a compensatory thoracic
lordosis (Fig. 36-14).83 Mintz and co-workers noted that
progressive kyphosis was associated with the loss of any
previously preserved lower extremity function.235
Management of Skin Breakdown. The treatment of
myelomeningocele-related kyphosis is always challenging.
e150 SECTION VI  Neuromuscular Disorders
FIGURE 36-14  Patients with lumbar kyphosis typically have a
compensatory thoracic lordosis.
FIGURE 36-15  The consequence of severe kyphotic deformity is
often unstable skin that is prone to repeated breakdown over the
deformity.
Lumbar kyphosis can be problematic from birth, causing
difficulty closing the skin and the meningeal defect. Later
difficulties include skin breakdown with sitting, sitting
balance problems, and even pulmonary compromise caused
by pressure on the thoracic cavity from the collapsing
abdomen and diaphragm. Chronic skin breakdown can leave
the neural elements and the spinal column exposed and at
risk for infection (Fig. 36-15).
If the kyphosis prevents adequate skin closure at birth,
one or two largely cartilaginous vertebral bodies can be
enucleated and the remaining spine held together with
sutures or cerclage wire (Fig. 36-16).57,63 Excellent initial
correction can be achieved, but eventual recurrence of the
kyphosis should be expected. However, recurrence takes
the form of a more rounded deformity, which may require
a less technically demanding correction in the future.
FIGURE 36-16  Congenital kyphosis can be treated by partial
vertebrectomy at birth if necessary to close the skin over the
myelomeningocele defect. Typically, the deformity recurs with
growth, and further procedures may be necessary.
Patients with skin breakdown over a stable kyphosis that
does not need treatment should have their wheelchair sup-
ports and activities carefully evaluated and any irritants
causing the breakdown removed. If these efforts are unsuc-
cessful, rotational or free flaps can be used to cover the
kyphotic area with thicker, more stable skin. Soft
tissue expanders have been used for this purpose as well,
independently and in conjunction with spinal deformity
correction.
Definitive Management. There appears to be little, if any,
role for bracing in an attempt to control or correct
the deformity. Definitive management of kyphosis
consists of kyphectomy and posterior spinal fusion and
instrumentation.‡d
This is one of the most challenging procedures in
orthopaedics. Patients in whom the apex of the deformity
lies below the level of neurologic function are typically
treated by cordectomy, vertebral body resection, and
instrumentation.
Preoperative Preparation. Careful preoperative assessment
is necessary. The function of the shunt must be determined
and, if it is nonfunctioning in a patient who is shunt-
dependent, it must be replaced before surgical treatment
of the kyphosis. The skin over the kyphosis must be as
stable as possible and, if it is of poor quality, a plastic
surgeon should be consulted to assess the use of tissue
expanders or rotational flaps. Patients should have careful
‡d
References 6, 57, 59, 93, 94, 113, 118, 128, 135, 140, 157, 173-175,
188, 197, 209, 247, 250, 254, 280, 284, 296, 315, 334, 337, 353.

nutritional assessment and their nutritional status maxi-
mized prior to surgery. The patient should be treated for
any urinary tract infection preoperatively, and renal func-
tion should be evaluated. The aorta typically bridges the
area of kyphosis and thus is not at great risk during verte-
brectomy; however, the kidneys are often nestled within the
kyphotic area and may be inadvertently injured during
surgery.112,178 Cordectomy may result in improved bladder
function, as evidenced by increased bladder compliance
and capacity.161 Rarely, a patient has neurologic function
below the apex of the kyphotic deformity, in which case
the spinal sac must be carefully protected from injury or
devascularization.
Kyphectomy
Technique. Sharrard was the first to describe the tech-
nique of vertebrectomy in the management of kyphotic
deformity in newborns296 and later in older children, as
described by Sharrard and Drennan.299 At surgery, the
neural elements are dissected away from the posterior
spinal elements (see Plate 36-3). In patients with no func-
tion below the level of resection, the nerve roots and cauda
equina remnants can be resected by tying the roots, elevat-
ing the distal cord, and transecting it. The meninges should
be dissected free of the neural elements, resected distal to
the elements, and sutured closed. The spinal cord should
not be tied because acute hydrocephalus may result, pos-
sibly causing sudden death. After resection of the cord, the
lumbar spine is dissected extraperiosteally from the poste-
rior approach to the anterior aspect of the vertebral bodies.
Two or more vertebral bodies are resected through their
midportions so that the kyphosis can be reduced. Fixation
to the pelvis is then carried out. A number of instrumenta-
tion techniques have been described, including fixation with
Harrington compression instrumentation, Luque-Galveston
instrumentation to the iliac crests, the Dunn-McCarthy
modification of Luque instrumentation to the sacral alae,
Luque rods contoured to fit through the first sacral foramen
per the Fackler technique (a modification of the Dunn-
McCarthy technique),353 vertebral body plates, and figure-
eight wire loops around the pedicular remnants, with
immobilization in a cast or brace (Fig. 36-17).§d
My preferred technique is to use Dunn-McCarthy rods
over the sacral alae in older children, with posterior pedicu-
lar wire loops or vertebral body screws, and to use pedicle
screws from the lowest level at which they are intact to the
T2 or T3 level proximally. In young patients (6 to 10 years),
I prefer the Fackler technique, in which a contour rod is
placed anterior to the sacrum through the first sacral
foramen. In younger patients, I have also used sublaminar
wires without fusion in the upper thoracic spine to allow
for growth. There have been recent reports of using the
vertical expandable prosthetic titanium rib (VEPTR) to
treat young patients with severe kyphotic deformity.102,308
The high rate of complications in patients undergoing one-
stage, definitive spine surgery has resulted in bias against
the use of so-called growing techniques, which require mul-
tiple planned operations in patients with myelomeningo-
cele; I prefer to use nonoperative delaying tactics (i.e., casts
§d
References 57, 93, 94, 128, 135, 140, 173, 175, 188, 197, 209, 296,
315, 337, 353.
CHAPTER 36  Disorders of the Spinal Cord e151
A B
FIGURE 36-17  Fixation options for definitive surgical management
of kyphosis. A, Luque segmental wire and Galveston
instrumentation fixation to the pelvis. B, Luque wire with
Dunn-McCarthy fixation to the pelvis. This is my preferred
stabilization technique.
and braces) in very young patients and perform single-stage
definitive surgery after the age of 6 years.
Results. Martin and co-workers reported improved skin
condition and sitting posture in all 10 patients treated by
vertebrectomy, figure-eight wire fixation, and postoperative
cast immobilization at an average age of 5 years.197 However,
lower extremity fractures, delayed wound healing, and
pseudarthroses occurred. The average degree of deformity
was 90 degrees preoperatively, 40 degrees postoperatively,
and 60 degrees at an average follow-up of 5 years.
Warner and Fackler found that 8 of 21 patients in whom
kyphosis was stabilized with Harrington compression instru-
mentation, but none of 12 patients treated by fixation ante-
rior to the sacrum (modified Dunn-McCarthy technique)
and instrumentation, had recurrence of kyphosis on
follow-up.353 Improved deformity correction using the
Dunn modification of segmental fixation also has been
reported by others.135,209 McCall209 reported that preopera-
tive deformity averaged 110 degrees, postoperative defor-
mity averaged only 15 degrees, and loss of correction
averaged only 5 degrees on follow-up. Of 16 patients, 8 had
complications, and blood loss averaged 1100 mL.209
Garg and colleagues achieved improved seating balance
and skin conditions in 17 of 18 patients undergoing kyph-
ectomy.118 Seven patients required reoperation and three
developed deep infection. One patient who had removal of
implants following deep infection developed recurrent
deformity. As a result of this experience, anterior fusion
prior to implant removal is now recommended for patients
who develop deep infection.
Odent and associates254 reported nine patients who
underwent a two-stage procedure consisting of a posterior
e152 SECTION VI  Neuromuscular Disorders
kyphectomy using lumbar pedicle screws and long, S-shaped
rods buttressing the anterior sacrum and a thoracoabdomi-
nal approach to the spine, with an inlay strut graft from T10
to S1 as a second operation several weeks later. Kyphosis
was corrected from a mean of 110 degrees before surgery
to 15 degrees afterward, with no instrumentation failure,
loss of correction, or pseudarthrosis. The authors believe
that this technique improves biomechanical and biologic
fusion mass anteriorly and should prevent late instrumenta-
tion failure and loss of correction. Caution is advised,
however. It is generally agreed that kyphectomy with instru-
mentation is a major surgical procedure, intraoperative
blood loss is usually well in excess of 1000 mL, periopera-
tive deaths have occurred, and postoperative complications,
including skin breakdown, infection, loss of fixation, and
recurrence of deformity, occur more frequently than after
most other orthopaedic procedures.‖d
Scoliosis
Scoliosis in patients with myelomeningocele may be con-
genital, idiopathic-like, or related directly or indirectly to
the spinal dysraphism and associated paralysis (associated
intrathecal anomalies such as tethered cord, hydromyelia,
or diastematomyelia; paralytic pelvic obliquity; asymmetric
paralysis). Scoliosis is one of the most common musculo­
skeletal deformities requiring treatment in patients with
myelomeningocele (52% to 70%, most by 6 years of age),
and 50% of them will require surgery.¶d
Muller and Nordwall240 found scoliosis in 94% of patients
with thoracic level lesions and 20% with sacral level lesions.
Ambulatory status also correlated strongly with the devel-
opment of scoliosis, which was more likely in nonambula-
tory patients and in those with limited ambulation.
Noncongenital scoliosis in young myelomeningocele
patients is highly likely to progress by an average of 5
degrees/year.242 The severity of the curve and age of the
patient are risk factors for progression—curves of more than
40 degrees are much more likely to progress, and curves
continue to develop until age 15 and progress only slightly
thereafter.242 Curves less than 20 degrees often resolve. The
clinical motor level, ambulatory status, and last intact
laminar arch are all predictive factors for the development
of scoliosis.341
Orthotic Treatment. Spinal orthoses such as the Boston
brace may have a role in the management of noncongenital
scoliosis in patients with myelomeningocele.241,255 Practi-
cally speaking, however, spinal orthoses such as the Boston
brace may be difficult to incorporate into the overall man-
agement of a child with myelomeningocele, especially one
who is ambulatory, because the spinal orthosis may be hot,
uncomfortable, and cumbersome. In patients who require
a pelvic band for lower extremity bracing, the band must
accommodate the brace; those who sit exclusively may have
pressure problems under the brace or over the anterior
thigh.
‖d
References 6, 59, 118, 128, 135, 157, 175, 188, 197, 209, 280, 337,
353.
¶d
References 12, 13, 16, 49, 173, 202, 218, 219, 240-243, 259, 263,
270, 274, 315, 316, 319, 341, 352.
Spinal Fusion. Several aspects of myelomeningocele make
scoliosis surgery unique in these patients. Foremost among
these is the presence of a posteriorly deficient spinal column,
presenting challenges to fixation and fusion. Second, because
the curves are neuromuscular, treatment often entails fusion
to the pelvis, which requires fusing across the posterior
deficiency and may negatively affect mobility and self-
care.32,202,243 There is invariably significant scarring around
the neural elements, and distraction correction in patients
with useful lower extremity function must be done care-
fully to avoid the potential loss of neurologic function.
Finally, these challenges, combined with the scarring of
posterior soft tissues, result in a much higher than average
incidence of wound healing and deep infectious
complications.#d
Spinal fusion with correction of the scoliotic deformity
can have a positive effect on pulmonary function in myelo-
meningocele patients. This may be secondary to improved
thoracic mechanics after stabilization.16,49
In many patients, the combination of posterior element
deficiency and relative skeletal immaturity mandates ante-
rior or combined anterior and posterior spinal fusion.*e
Internal fixation may be anterior, with vertebral body
screws and rods, or posterior, with rods, hooks, wires, and
pedicle bone screws, with fixation to the pelvis.†e
Technique. My preferred surgical treatment for scoliosis
in patients with myelomeningocele is a single-stage com-
bined anterior spinal release and fusion, followed by
posterior spinal fusion with instrumentation to the pelvis. I
use pedicle screws when possible, pedicle wires or screws
in the area of posterior element insufficiency, and Luque-
Galveston or Dunn-McCarthy fixation to the pelvis (see
Plate 36-3).
Postoperative Management. Urinary tract infection,
which threatens the urinary tract and posterior spinal fusion
site, wound infection, pressure sores, implant failure, and
pseudarthrosis are all postoperative problems unique to or
more frequent in myelomeningocele patients after exten-
sive spinal fusion, particularly with instrumentation. To
minimize the possibility of a potential urinary tract infection
leading to a bacteremia-induced spinal wound infection, I
treat patients the evening before surgery with parenteral
gentamicin.
Postoperatively, the patient’s urinary management
routine should return to the preoperative technique, usually
clean intermittent catheterization, as soon as possible, with
postoperative urine cultures and prompt aggressive treat-
ment of any early urinary tract infection. The surgical
wound must be kept covered with a sterile dressing until
healed and should be inspected regularly for evidence of
inflammation, necrosis, hematoma, CSF collection, or
drainage. If present, these conditions should be managed
aggressively with surgical débridement, as indicated. Increas-
ingly, I have been using an impermeable, negative-pressure
(vacuum-assisted closure [VAC]) dressing to cover the
wound for several weeks following the surgery.
#d
References 12, 13, 119, 130, 173, 209, 219, 259, 313, 315, 316,
319, 352, 353.
*eReferences 13, 173, 219, 258, 259, 263, 314, 316, 319, 352, 353.
†e
References 13, 27, 31, 173, 219, 258, 259, 263, 286, 352, 363.

Fusions to the pelvis with instrumentation must be care-
fully protected during the early postoperative period (6 to
12 weeks). During this time, I do not allow independent
transfers by the patient and teach the parents and other
caretakers to move the patient’s spine, pelvis, and lower
extremities as a unit to prevent excessive force on the
instrumentation at the lumbosacral junction. If necessary, a
spinal orthosis with thigh extensions is fabricated to protect
these areas. The patient’s skin must be carefully monitored
for evidence of irritation or impending breakdown in the
new weight-bearing areas of the sacrum, buttocks, and
thighs. Sitting should be resumed gradually, with assess-
ment of these areas after the initial 20 minutes of sitting
and periodically thereafter. Adjustments to the wheelchair
cushion and back support are almost always necessary.
Finally, the surgeon must monitor for evidence of deep
infection or pseudarthrosis, as indicated by implant failure
or progressive deformity.
Results. Extensive spinal fusion such as that necessary to
treat progressive noncongenital scoliosis in myelomeningo-
cele patients can have a negative impact on the child’s
overall mobility.202,244,290 Although sitting balance was shown
to improve, ambulatory ability was adversely affected in
67%, unchanged in 33%, and improved in none in one
study.202 Thus the decision to perform anterior and poste-
rior fusion, especially to the pelvis, must be carefully
weighed against the potential impact on the child’s mobility
and independence.
ADLs, including self-dressing and self-catheterization,
may also be adversely affected by extensive spinal fusion.32,243
Thus the wise orthopaedic surgeon seeks the counsel of
therapists and a urologist regarding the potential impact of
spinal fusion on these activities before proceeding with
surgery. Finally, the incidence of pressure sores in sitting
position, weight-bearing areas may actually be increased by
spinal fusion to the pelvis, regardless of whether there is
residual pelvic obliquity. Presumably, the loss of flexibility
of the lumbar spine and lumbosacral junction, combined
with altered areas of weight bearing in the sitting position,
causes this increased incidence of pressure sores. Wheel-
chair modifications, including cushions, must be made in
the early postoperative period.
A review of early reports of spinal fusion in myelome-
ningocele patients is instructive; one simultaneously realizes
the impact that experienced multidisciplinary care and
improved surgical techniques and instrumentation have had
on the results of spinal fusion but is sobered by the fre-
quency and gravity of postoperative complications in this
patient population.87,315 Postoperative complications, includ-
ing deep wound infection, pseudarthrosis, fracture, worsen-
ing of neurologic deficits, or pressure sores have been
reported in more than 50% of these patients, regardless of
the surgical technique.
With rare exceptions, posterior or anterior fusion alone
is inadequate for myelomeningocele patients with paralytic
scoliosis; progressive spinal deformity above the area of
anterior surgery that required further posterior surgery,
despite solid fusion from the first procedure, has been
reported. 259,316 Pseudarthrosis rates have been reduced by
50% using combined anterior and posterior fusion with a
variety of instrumentation systems.352 McMaster219 noted
improved posture and function in 21 of 23 patients treated
CHAPTER 36  Disorders of the Spinal Cord e153
by staged anterior spinal fusion with Dwyer instrumenta-
tion followed by posterior spinal fusion with Harrington
instrumentation. However, one patient died of cardiorespi-
ratory failure, four had wound necroses, two had
deep wound infections, and one had a lumbosacral
pseudarthrosis.
The best results of spinal fusion for paralytic scoliosis in
myelomeningocele patients occur in those treated by com-
bined anterior and posterior fusion, with stable segmental
fixation achieved by a combination of sublaminar wires,
pedicular remnant wires, and pedicle screws.352 Banta13
reported that, overall, the addition of anterior fusion to
posterior fusion and instrumentation resulted in greater cor-
rection of spinal deformity and pelvic obliquity and an
improved fusion mass over that achieved with posterior
fusion alone. Parsch and colleagues263 and Stella and associ-
ates319 reported similar results.
Hyperlordosis
A less common spinal deformity in patients with myelome-
ningocele is hyperlordosis, with or without associated sco-
liosis.11,317 Hyperlordosis can lead to difficulty sitting,
intertriginous skin breakdown, and difficulty with self-
catheterization in females because of the posterior rotation
of the perineum (Fig. 36-18). In the past, this deformity
was associated with lumboperitoneal shunting,317 but this
method of shunting is rarely used today. Treatment, when
required, is by a combination of anterior and posterior spinal
release and posterior instrumentation; in severe rigid defor-
mities, postural reduction in traction after spinal release,
before definitive instrumentation, may improve the
deformity.317
Hemimyelodysplasia
A relatively rare manifestation of myelomeningocele is char-
acterized by significantly asymmetric involvement of the
lower extremities, with one leg being significantly affected
and the contralateral leg being normal or almost normal.
This condition is referred to as hemimyelodysplasia or
hemi–spina bifida. The affected extremity shows all the
typical manifestations of myelomeningocele—motor and
sensory paralysis, congenital deformities, and deformities
that develop secondary to the motor paralysis. In addition,
significant limb length inequality develops in most patients
because of paralysis-induced growth inhibition on the
affected side. A review of 10 such patients by Maguire and
co-workers found that scoliosis and limb length inequality
had developed in all of them; 6 of the 10 also had congenital
renal anomalies.192 Many of the patients in their report also
had congenital vertebral anomalies and intrathecal anoma-
lies, reinforcing the fact that these patients require a thor-
ough assessment of the spinal column, spinal cord, and
urinary system. Limb length inequality requires orthotic
management, epiphysiodesis, or lengthening, as clinically
indicated (Fig. 36-19).
Orthotic Management
General Principles of Bracing and Rehabilitation
A principal component in the management of patients with
myelomeningocele is the use of orthoses to stabilize joints
e154 SECTION VI  Neuromuscular Disorders

FIGURE 36-18  Hyperlordosis in

myelomeningocele. A, Clinical
appearance. Excessive lordosis can
interfere with self-catheterization,
particularly in girls. B, Radiographic A B
appearance.

A B
FIGURE 36-19  Patient with hemimyelodysplasia involving the right lower extremity. A, Clinical appearance. Typically, there is pronounced
asymmetry between the limbs in function, as well as leg length inequality. B, Radiographs demonstrate an 8-cm leg length inequality. The
patient had previously undergone a varus osteotomy of the right hip.

in the absence of lower extremity muscle function and
facilitate weight bearing and ambulation.‡e
Only rarely does a patient with a low sacral level lesion
not require bracing at all; the huge majority of children need
‡e
References 67, 104, 122, 123, 156, 176, 187, 203, 207, 210, 241,
267, 278, 288, 346, 361.
lower extremity braces to accomplish upright positioning
and ambulation. Orthopaedists should be familiar with basic
orthotic principles because they are often the ones prescrib-
ing orthoses, checking their fit, and confirming that the
prescription is appropriate and achieves the desired maximal
mobility with minimal intrusion.
The purpose of lower extremity orthoses is to substitute
for lower extremity muscle function, which, when present
 CHAPTER 36  Disorders of the Spinal Cord e155

normally, stabilizes joints during weight bearing and powers

advancement of the limbs during ambulation. Lower Specific Protocols by Spinal Level
extremity orthoses can also provide protection for insensate Thoracic and Upper Lumbar Levels. Patients with thoracic
skin. The initial orthotic fitting should be carried out when or upper lumbar levels of paralysis are unable to pull them-
the child is neurodevelopmentally ready to walk and capable selves to a standing position; thus this neurodevelopmental
of working with a physical therapist, rather than at a specific milestone cannot be relied on to determine when a lower
age, such as 12 months. Patients with thoracic or upper extremity orthosis should be prescribed. Stable, indepen-
lumbar lesions should have achieved enough trunk balance dent sitting balance without the need for constant upper
and strength to sit independently before lower extremity extremity support is usually a good indication that these
bracing is considered. Patients with lower lumbar or sacral patients are ready for upright positioning. Full lower extrem-
lesions usually have enough lower extremity strength to pull ity bracing (with HKAFOs) is likely to be required perma-
themselves into a standing position, at which time the first nently, and the long-term outlook for maintenance of
orthosis should be prescribed. In general, this neurodevel- ambulation, other than for transfers or exercise, is not good.
opmental stage is achieved somewhat later than in children The family and health care team should be aware that
without myelomeningocele, usually in the 18- to 24-month wheelchair mobility is the most likely end result. However,
range. If hip abduction contracture release or clubfoot some highly motivated patients with this extensive level of
surgery is required to enable the orthotist to fit the patient, paralysis maintain some ambulatory potential so, in general,
this surgery should be timed so that the child can be placed providing the opportunity to ambulate with braces during
in lower extremity braces as soon as the postoperative childhood is appropriate.
casting is removed and standing and ambulation can begin When these patients are ready for upright positioning,
immediately. Proceeding with surgery or brace fitting before they do best with standing frames or similar full upright
the child has reached the appropriate milestones just to positioning devices (Fig. 36-20). Wheeled standers allow
placate the parents’ anxiety that their 12-month-old child children a significant amount of mobility on flat surfaces at
is not yet walking only creates frustration for everyone home or at school (Fig. 36-21). Once the patient has
involved, and it may deflect attention from the fact that become comfortable with the upright position and does not
unlimited independent ambulation is not a realistic goal for resist it, consideration can be given to converting to
many patients.10,22,80,225,329 HKAFOs. When the joints of these braces are locked, they
The first prescription should usually extend one joint give the child standing support, although without the broad
level beyond that predicted to be necessary over the long base of support provided by a standing frame or similar
term, based on the child’s level of muscle paralysis. A child device, and allow ambulation with the orthoses and an
who is just beginning to assume upright mobility and is upper extremity aid, such as a walker or perhaps crutches.
compensating for muscle weakness with relatively heavy
and restrictive lower extremity orthoses can be expected
to experience muscle fatigue, joint instability, rotational
instability, and lack of confidence. All these factors tend
to unmask less than normal strength and joint stability,
particularly in the hip and knee. Furthermore, any orthotist
will readily attest to the fact that reducing HKAFOs
to KAFOs and KAFOs to AFOs is infinitely easier than
trying to extend an orthosis one level higher than the
original fit. Thus patients with good quadriceps function
who might be expected to need AFOs over time should
initially be fitted with KAFOs, and those with poorer quad-
riceps strength should initially be fitted with HKAFOs. I
believe that the purpose of the initial fitting is to gain
upright mobility and that orthotic adjustments should be
minimal and prompt to maintain focus on that initial goal.
Once the precise extent of bracing required by an indi-
vidual child has been confirmed and the initial goal of
independent upright positioning and ambulation has been
achieved, more elegant, lightweight orthoses made of poly-
propylene and more sophisticated joint components can
be prescribed.
Crutches or walkers are integral components of ambula-
tion for children with myelomeningocele, even those with
lower lumbar and sacral levels of paralysis.346 Their use
allows the child to transfer some weight bearing to the
upper extremity. Many children adopt a swing-through as
opposed to a reciprocal gait pattern when using crutches FIGURE 36-20  Standing frame for patients with significant lower
and any form of lower extremity bracing. This provides the extremity paralysis. This device can be used to introduce the child
child with a rapid but not necessarily energy-efficient means to upright positioning and requires relatively little adjustment for a
of ambulation. proper fit.
e156 SECTION VI  Neuromuscular Disorders
FIGURE 36-21  The wheeled stander gives the child mobility to
the equivalent of a standing frame. This device is suitable for
young children with significant lower extremity paralysis who
otherwise are unable to stand or move about.
Patients who do not tolerate or who are afraid of the upright
position should not be forced into it; attempts should be
postponed until the child has developed further. Satisfac-
tory function of the upper extremities is a prerequisite for
consideration of HKAFOs. After the child has demon-
strated good acceptance of and adaptation to upright mobil-
ity, reciprocating gait orthoses (RGOs; see later) should be
considered. Patients with some quadriceps function and
strong adductors may ultimately ambulate in KAFOs.
In a review of the literature on mobility in spina bifida
patients, Mazur and Kyle reported that among patients with
a high level of paralysis, studies have found little benefit to
walking with a parapodium, HKAFOs, or RGOs.203 Most
children give up walking as teenagers and choose a wheel-
chair as a more energy-efficient means of locomotion. Pro-
moting ambulation, which involves physical therapy,
orthoses, and possibly surgery, appears to be costlier than
promoting wheelchair locomotion, although that is difficult
to document.
Lower Lumbar and Sacral Levels. Typically, patients with
lower lumbar or sacral level paralysis have good to excellent
quadriceps function and should be able to function with
AFOs.193 Thus the first prescription should be for KAFOs
in most of these children because their initial efforts to
ambulate and the need to compensate for lower extremity
weakness with braces may manifest as insufficient knee
stability for maximum mobility in AFOs alone. The conse-
quences of fitting a child with AFOs when KAFOs are
required include recurrent falls, knee effusions, and an
unwillingness to ambulate. Usually, the appropriate time to
fit the initial orthosis is more easily determined than in
patients with upper lumbar or thoracic levels of paralysis
because most children with lower lumbar or sacral lesions
at least attempt to pull themselves to a standing position.
FIGURE 36-22  Solid ankle polyethylene ankle-foot orthosis. This
orthosis may be appropriate for patients with sacral level
myelomeningocele and for the occasional patient with lower
lumbar myelomeningocele and minimal knee and foot deformities.
Surgery for congenital foot or knee deformities should be
timed so that the patient can be fitted with the initial
orthotic prescription on removal of the postoperative cast.
Polypropylene orthoses can be considered for the first
prescription because the most complex adaptation after the
initial fitting is to reduce KAFOs to AFOs once the lack of
need for knee support has been documented. Frequent falls,
loss of confidence, or recurrent knee effusions indicate the
need to reinstitute KAFOs.
Braces
Ankle-Foot Orthoses.  Polypropylene AFOs are a mainstay
of lower extremity bracing in myelomeningocele patients
(Fig. 36-22). It is rare for a patient not to need these braces,
at a minimum, for endurance and comfort. The primary
purposes of AFOs are to protect the foot and toes during
weight bearing and stabilize the flail or weak ankle. AFOs
are ideally suited for patients with sacral level lesions and
are often the only type of braces that these patients require.
A variation suitable for patients with lower lumbar lesions
is the ground reaction AFO (Fig. 36-23). The proximal
anterior tibial component is meant to counteract calcaneal
moment at the foot by pressing against the shin to prevent
ankle sag into dorsiflexion with weight bearing more effec-
tively.143,335 Because of this tendency for ankle dorsiflexion
in the presence of inadequate gastrocsoleus function, articu-
lated AFOs are usually not beneficial for patients with
myelomeningocele.
Knee-Ankle-Foot Orthoses. KAFOs are required for
patients with upper lumbar lesions (weak quadriceps func-
tion) and are the recommended first prescription for most
patients with lower lumbar lesions. The orthosis consists of
an AFO component, thigh cuff, and some type of knee
hinge (Fig. 36-24).

FIGURE 36-23  Ground reaction ankle-foot orthoses. The anterior
portion of the brace presses against the shin, with dorsiflexion
moment at the foot to prevent excessive dorsiflexion of the ankle
and flexion at the knee.
FIGURE 36-24  Standard knee-ankle-foot orthoses have plastic
thigh and ankle-foot components connected with a knee hinge
(typically, a free, drop-lock hinge).
KAFOs must be aligned to the patient’s limb, taking into
account knee flexion deformity, varus or valgus deformity
at the knee, and rotational deformities in the tibia, ankle,
or foot. Usually, approximately 20 degrees of knee flexion
deformity is readily tolerated by the patient without
CHAPTER 36  Disorders of the Spinal Cord e157
significantly affecting walking ability. Greater deformities
usually obligate the patient to walk with the knee hinges
locked or even require a solid piece that accommodates the
flexion contracture between the thigh and calf. Ambulation
in such a position is usually labored, and the patient gener-
ally adopts a swing-to or swing-through gait strategy,
depending on the abdominal and hip flexor muscle strength.
If the knee hinges are not positioned to reflect the extent
of knee flexion deformity in the knee-locked position, pres-
sure areas will develop at the top of the cuff in the back.
This area is often troublesome, even when the fit is correct
for the amount of knee flexion deformity, because patients
tend to lean backward over the top of the orthoses when
standing (Fig. 36-25), or the orthoses may be pushed into
this area when the patient is sitting.
Hip-Knee-Ankle-Foot Orthoses. HKAFOs are extensive
braces required for all patients without adequate hip
strength or stability to allow weight bearing while standing
in KAFOs alone. Patients with anything less than good quad-
riceps strength are usually best fitted with HKAFOs ini-
tially, for the reasons discussed earlier. These orthoses
typically consist of two long-leg braces (KAFOs), as
described earlier, connected by a pelvic band and free hip
joint hinge (Fig. 36-26). The free hip hinge provides medio-
lateral stability in standing and walking, as well as rotational
stability. The most significant difference between HKAFOs
and KAFOs for the orthotist is that limb length inequality
(true or apparent) and rotational, flexion, and adduction or
abduction deformities through the hip must be taken into
account when aligning the orthosis. Thus extending a pre-
scription for KAFOs to HKAFOs by the addition of a pelvic
band is often a significant undertaking for the orthotist;
removing an unneeded pelvic band, however, is a simple
procedure.
HKAFOs involve significant bracing and make transi-
tional movements awkward. Combined with the extensive
weakness of the lower extremities, this makes this mode of
ambulation impractical for most adolescents and adults.
Patients requiring HKAFOs for ambulation as children
usually choose full-time wheelchair use as adolescents or
adults; alternatively, they might use KAFOs to assist with
transfers only.
Reciprocating Gait Orthoses. The concept of RGOs was
originally introduced at the Ontario Crippled Children’s
Treatment Center and refined by Douglas and colleagues.85
These braces are a sophisticated form of HKAFOs consist-
ing of long-leg braces with a connecting pelvic band. Their
unique feature is that the two long-leg components are con-
nected by spring-loaded cables (Fig. 36-27). Flexion of the
hip with advancement of the limb produces passive contra-
lateral hip extension through the springlike cable, allowing
a longer, more energy-efficient stride. Ideal candidates for
this orthosis are patients with upper lumbar lesions (i.e.,
with hip flexor power only) who have demonstrated a
motivation to ambulate and have no major contractures or
deformities preventing the fitting of the long-leg compo-
nents of the braces. In these patients, gait laboratory and
clinical studies have demonstrated a more efficient, less
energy-consuming ambulation compared with ambulation in
conventional HKAFOs; however, many children adopt a
e158 SECTION VI  Neuromuscular Disorders

A B
FIGURE 36-25  Orthoses must be customized to fit the patient’s deformities. A, Long-leg braces that do not accommodate a knee flexion
deformity will dig into the posterior aspect of the child’s upper thigh, potentially producing pressure sores. B, Milder deformities may be
accommodated by inlaying a softer plastic insert into the thigh portion of the knee-ankle-foot orthosis to prevent excessive pressure in the
posterosuperior thigh area.

FIGURE 36-26  Standard hip-knee-ankle-foot orthoses consist of

FIGURE 36-27  Pelvic component of a reciprocating gait orthosis.
knee-ankle-foot orthoses connected to a pelvic band, with hip
The knee-ankle-foot components are connected by a spring-
hinge joints incorporated. Usually, free or drop-lock hinges are
loaded cabling apparatus. When the patient advances one limb by
used.
flexion of that hip, dynamic extension is produced in the
contralateral limb.

swing-to or swing-through gait pattern with crutches and
HKAFOs.67,122,207,210,267,365 This pattern of ambulation is
faster than a reciprocating gait, irrespective of whether the
child is fitted with RGOs or conventional HKAFOs. RGOs
have also been prescribed for patients with thoracic or lower
lumbar levels of paralysis, but their value in these patients
is less obvious.210
Other Mobility Aids
Standing Frame. Standing frames consist of a simple base
(e.g., partial sheet of plywood) with an A frame–like upright
support to which the child can be strapped. No actual
mobility is provided by these devices, but the patient can
be placed in an upright position in them. They are useful
when upright mobility is being considered in severely
impaired patients because they are simple to adjust and can
accommodate relatively severe deformities. Patients must
demonstrate sufficient head control before use of this appa-
ratus. Standing frames allow patients to interact with their
peers at eye level and allow parents, therapists, and physi-
cians an opportunity to assess the child’s reaction to being
in an upright position as a precursor to ambulation in
HKAFOs. Occasional patients react poorly, especially if
they are capable of crawling and resist being locked in one
upright location; in this case, the child should not be forced
to accept the upright position. The child must be carefully
monitored by a responsible adult while in the standing
frame. Usually, the child stands at a table surface in the
standing frame, and one must be careful that the child does
not learn to push himself or herself away from the table,
pitching backward in the apparatus.
Parapodium. These devices are the equivalent of mobile
standing frames. Simple lockable hip and knee hinges are
incorporated into the device so the patient can be held
upright with the hinges locked or sit with the joints
unlocked. Walking can be accomplished with an upper
extremity aid, usually a walker. Fitting is simpler than with
HKAFOs because there is less intimate contact between the
limbs and orthosis, but parapodia are heavy and bulky. Their
use is limited to patients with thoracic level lesions who are
motivated as children to assume an upright position and
achieve limited mobility; in this respect, parapodia have an
advantage over standing frames. They are not useful long
term, nor can they be used as adult mobility aids.176 At my
institution, we prefer to use wheeled standers as mobility
aids for this patient group.
Wheelchair. Many variations of wheelchairs are available to
the paraplegic population. The wisest course for a physician
is to recruit the assistance of a knowledgeable physical
therapist, occupational therapist, or other mobility special-
ist to provide the ideal prescription for each child based on
her or his needs. Most patients with myelomeningocele,
even those with lower lumbar lesions, use wheelchairs as
adolescents and adults because they are an energy-efficient
means of transportation. Parents of patients who have
walked are often reluctant to fill a prescription for a wheel-
chair for an older child or adolescent because they fear that
the child will never walk again. They should be educated
that useful ambulation and standing transfers will not be
abandoned by the child; the wheelchair is simply the most
CHAPTER 36  Disorders of the Spinal Cord e159
energy-efficient mobility device. If a child chooses never to
walk again, it is because upright mobility with lower extrem-
ity bracing and an upper extremity aid was not useful in the
child’s daily activities. The health care team should help
guide the child and family to the many enjoyable endeavors
possible in a wheelchair, such as racing, basketball, tennis,
and similar adapted recreational activities.
Almost all patients with myelomeningocele are excellent
candidates for manual wheelchairs. Their upper extremities
are relatively unaffected, and manual powering of the
wheelchair provides them with much-needed exercise.
Some controversy exists as to whether patients with higher
levels of paralysis who use wheelchairs as their sole method
of mobility become more efficient wheelchair users than
those who use wheelchairs as limited ambulators—that is,
for exercise or to get around the house. Alternatively, there
is some question about whether the latter patients incur
fewer medical problems, such as decubitus ulcer, joint con-
tracture, bone fragility, hydronephrosis, or obesity, if they
are taught upright mobility. Studies indicate that neither
position is generally correct.176,206 Thus the health care
team, in consultation with the family, must individualize
decisions about when to introduce the wheelchair and the
extent to which efforts at upright mobility are encouraged,
based on each child’s needs and desires.
Other Aspects of Care
Skin
Insensate skin represents a constant risk of skin breakdown
in most patients with myelomeningocele, and parents, care-
takers, and the patients themselves must be taught how to
prevent pressure sores. Initially, parents must be cautioned
to prevent contact with excessively hot or cold surfaces or
excessive exposure to sunlight or cold. Bath water must
always be checked by the parent before the child is immersed
in it. The immobile child must be turned regularly and
positioned carefully in bed. The diaper should be changed
frequently to keep the perineal area clean, and diaper rashes
should be treated promptly with appropriate creams and
exposure to air. When shoes are put on, they must be
opened fully to ensure that the child’s toes do not curl up,
leading to sores.
When the child gains crawling mobility, the lower legs
must be protected from rough surfaces such as concrete to
prevent excoriation. A common source of foot ulceration is
contact with the rough surfaces of swimming pools; protec-
tive wading shoes and education can help prevent this.
After the child has been fitted with lower extremity
braces for ambulation, the braces must be inspected every
day for broken components or evidence of undue pressure
on the child’s skin. The following are the most common
problem areas: the instep with a planovalgus foot deformity;
around the malleoli, secondary to growth of the child or to
a rotational or angular deformity affecting the position of
the ankle relative to the orthosis; and at the top of the thigh
portion of a long-leg brace posteriorly, when the presence
of a knee flexion deformity has not been accounted for in
the alignment of the long-leg brace.
The sitting child must be fitted with a wheelchair that
has good cushioning (e.g., a Roho cushion); patients with
pelvic obliquity or bony deformity about the pelvis or lower
e160 SECTION VI  Neuromuscular Disorders
spine may need custom inserts to protect bony prominences
from becoming excoriated. The child must be taught to
keep the perineal area dry and clean and to prevent contact
dermatitis, which can lead to skin breakdown. Intermittent
relief of the buttocks must be achieved by regularly per-
forming pushups in the chair; children and adolescents may
need watch alarms or similar reminders to ensure that this
occurs throughout the day. The perineal, posterior spinal,
and ischial areas should be inspected every day as well and
any increased pressure marks reported to the physician.
Education and Counseling
In managing children with myelomeningocele, it is impor-
tant not to neglect the patient’s long-term goals in an effort
to achieve short-term goals such as walking and prevention
of urinary complications. Although these short-term goals
are important and can influence long-term goals, caretakers
and parents should realize that the primary long-term goal
for any child with the requisite intellectual ability is to
become a self-sufficient individual, able to perform ADLs
and seek gainful employment. Thus the child’s general edu-
cation is a critical component of care. When these patients
become young adults, educational, employment, and sexual
counseling are also required.
A young child with an upper lumbar level of paralysis
may be able to achieve reasonable mobility with the aid of
crutches and long-leg braces and the encouragement of
parents and therapists. However, that child will not earn a
living by walking, and the time and effort devoted to that
goal must be carefully weighed against the global needs of
the child. Learning to deal with bowel function, paralyzed
bladder function, and insensate skin is more important than
taking a few steps in the physical therapy department.
Whether such a child grows into an independent adult
depends on whether she or he is well educated, has been
taught self-care, remains healthy by avoiding shunt, skin,
and urinary tract problems, and has been guided toward
realistic employment training.
Summary
Management of a child with myelomeningocele begins at
birth and continues throughout growth; it is one of the most
challenging and rewarding tasks that the pediatric orthopae-
dist will face. This patient population manifests almost all
the deformities that the orthopaedic surgeon has been
trained to correct—congenital foot, knee, hip, and spinal
deformities, fractures, contractures, muscle imbalance, and
scoliosis. However, the complication rate is higher and the
success rate lower in this patient population for almost
every standard technique, which can be a source of frustra-
tion and discouragement to the physician, parents, and
child. Nowhere in orthopaedics is the adoption of a team
approach, spearheaded and coordinated by a developmental
pediatrician or a similar individual, more important to the
delivery of health care. The orthopaedist is an integral com-
ponent of this team and should devote his or her energy to
correcting the deformity, maximizing the child’s mobility,
and screening for the loss of neurologic function or the
development of other deformities, especially spinal. These
efforts must always be guided by the long-term goal of
developing healthy, happy, employable, and self-sufficient
young men and women.
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e168 SECTION VI  Neuromuscular Disorders

360. Wright JG, Menelaus MB, Broughton NS, et al: Natural history manifests as skin ulceration or pressure areas. In spinal
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362. Wu HY, Baskin LS, Kogan BA: Neurogenic bladder dysfunction any form of spinal dysraphism should include a thorough
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82:524, 2000. lies.19,23 Prenatal sonographic detection of a lipomeningocele
364. Yen S, MacMahon B: Genetics of anencephaly and spina bifida? has been reported.34 MRI of the spine should be performed
Lancet 2:623, 1968.
in most patients with suspected spinal dysraphism to define
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366. Yngve DA, Lindseth RE: Effectiveness of muscle transfers in cal anomalies. Computed tomography (CT) of the lumbo-
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367. Zerin JM, McLaughlin K, Kerchner S: Latex allergy in patients
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Lipomeningocele
368. Zurmohle UM, Homann T, Schroeter C, et al: Psychosocial Lipomeningocele is a dysraphic condition of the spine char-
adjustment of children with spina bifida, J Child Neurol 13:64, acterized by incorporation of subcutaneous fat into the
1998.
distal part of the spinal cord. The lesion is often skin-
covered, but the posterior elements of the vertebral column
Other Forms of Spinal Dysraphism are frequently defective. The neuropathways are often
intact; the neurologic deficit is caused primarily by tethering
The term spinal dysraphism refers to a complex group of of the spinal cord to the surrounding fixed structures. Weak-
developmental abnormalities of the spine and neural axis in ness in one or more lower extremities or disturbances in
which there is a nerve tissue anomaly, usually combined bowel or bladder function may be present from birth or
with bony anomalies of the vertebral column. This category develop over time.
of disorders encompasses a wide spectrum of conditions. At
one extreme is myelomeningocele, as presented in the pre- Clinical Features
vious section. Other, generally milder forms of spinal dys- Most patients with lipomeningocele are asymptomatic
raphism described here include lipomeningocele, tethered during infancy. The only physical finding may be the pres-
cord caused by thickened filum terminale, diastematomy- ence of a lumbosacral soft tissue mass (Fig. 36-28). Alter-
elia, spina bifida occulta, and caudal regression syndrome, natively, there may be a variable degree of muscle weakness,
including sacral and lumbosacral agenesis. sensory changes, or lower extremity skeletal anomalies,
Cutaneous lesions may be present in patients with more
subtle forms of spinal dysraphism, such as midline heman-
giomas, sacral dimples, and local hairy patches. Sacral
dimples associated with spinal dysraphism are always in the
midline; these dimples may be connected to a sinus tract
(dermal sinus) or a fibrous band leading to bone or dura.
The clinician should be highly suspicious of skin dimples
proximal to the fifth lumbar level, particularly when associ-
ated with spina bifida occulta. The location of the cutaneous
lesion does not always correlate with the level of the intra-
spinal lesion.
In spinal dysraphism, musculoskeletal deformity may be
absent or present at birth and may manifest as talipes equi­
novarus, congenital convex pes valgus, cavus, or simple
equinus. There may be shortening or atrophy of the lower
limb or hip subluxation or dislocation. When an infant pre­
sents with lower extremity deformity, clinical assessment
of the spine, at a minimum, is required to rule out spinal
dysraphism.
Neurologic deficits may manifest at any time during a
child’s growth and development. One foot may be smaller
than the other or calf or thigh atrophy may be noted.
Sensory dysfunction is variable and may be difficult to FIGURE 36-28  Clinical appearance of a patient with
detect in an infant or young child. Loss of sensation usually lipomeningocele.

FIGURE 36-29  MRI appearance of lipomeningocele. Note the
lipomatous mass involving the conus medullaris.
such as hip dislocation or subluxation, knee deformity, and
clubfoot or other foot deformity. The MRI findings in a
patient with lipomeningocele are shown in Figure 36-29.
Treatment
The natural history of lipomeningocele is variable. The late
development of neurologic deficit may be caused by mass
effect from the lipomatous tissue acting as an expansile
tumor within the central canal and compressing the conus,
or it may be caused by tethering of the spinal cord to sub-
cutaneous tissue or dura. Neurosurgical debulking is usually
indicated when neurologic deficit is noted, and it is defi-
nitely indicated when progressive neurologic deficit is
present. Secondary tethering of the spinal cord as a conse-
quence of the scarring produced by this procedure may
occur in the growing child.
Orthopaedic management entails treating the lower
extremity deformity and weakness, as indicated by their
severity and symptoms. The most common orthopaedic
abnormality is an equinocavus foot deformity (Fig. 36-30).
Treatment should be undertaken as described earlier in the
discussion of myelomeningocele. During growth, the patient
should be reassessed periodically to screen for the develop-
ment of associated scoliosis and confirm stable neurologic
function. In my experience, more severely affected patients
may develop Charcot joints of the ankle, for example (Fig.
36-31). These joints can be difficult to treat. Initial manage-
ment entails protective bracing. Fusion may be attempted
for symptomatic, deformed Charcot joints, but it can be
difficult to achieve.
Tethered Cord (Thickened Filum Terminale)
Tethering of the spinal cord within the thecal sac, prevent-
ing normal migration of the conus to the level of the first
CHAPTER 36  Disorders of the Spinal Cord e169
FIGURE 36-30  Patient presenting with a unilateral cavovarus
(equinocavus) foot deformity. Lower extremity weakness and back
pain were present. MRI of the lumbar spine revealed a tethered
cord secondary to a taut, thickened filum terminale.
or second lumbar vertebra,4 may occur in association with
diastematomyelia (see later), lipomeningocele, a taut or
thickened filum terminale, or other congenital anomalies of
the filum terminale, or it may be secondary to scarring
associated with intrathecal procedures such as closure of a
myelomeningocele sac.§e
The radiographic hallmark of spinal cord tethering is the
presence of the conus below its normal level of L1 or L2
after age 2 months (Fig. 36-32). When the cause is a thick-
ened, taut filum terminale, this is also evident on MRI scans.
Affected patients may have back pain, perhaps radiating
into the posterior thighs, lower extremity weakness, muscle
tightness, particularly in the hamstrings, foot deformities,
including equinus and equinocavus, and occasionally bowel
or bladder problems. On examination, hemangioma, sacral
dimpling, or hairy patches may be present. Treatment con-
sists of neurosurgical release in symptomatic patients.
Usually, any associated orthopaedic deformities will persist
and require treatment, as indicated.
Diastematomyelia
Diastematomyelia is a congenital malformation of the neural
axis in which there is a sagittal division of the spinal cord
or its intraspinal derivatives. It is often associated with the
projection of an osseous, fibrocartilaginous, or fibrous spur
attached anteriorly to one or more vertebral bodies and
posteriorly to the dura (Figs. 36-33 and 36-34).13,41 There
may be an associated tethering of the spinal cord secondary
to a thickened filum terminale.
The pathogenesis of diastematomyelia is unknown. It
appears that during the organization of the neural tube from
the primitive neuroectoderm, aberrant mesodermal cells
protrude into the neural tissue on its anterior surface instead
of becoming arranged entirely around its periphery. They
persist in this location, developing into a bony and dural
septum. Multiple associated congenital anomalies of the
vertebrae, with some degree of incomplete spinal fusion,
are often present.20 The osseous septum transfixes the
§e
References 5, 7, 11, 17, 18, 22, 25, 33.
e170 SECTION VI  Neuromuscular Disorders

A B
FIGURE 36-31  Gross degenerative joint disease (Charcot joint) resulting from lack of protective sensation. A, Radiograph demonstrating
significant destructive changes of the tibiotalar joint. This disorder occurs more commonly in patients with lipomeningocele than in those
with myelomeningocele. B, Clinical appearance. Note swelling of the ankle. The joint is unstable, but the patient has only mild pain.

FIGURE 36-32  MRI scan of a patient with back pain and lower FIGURE 36-33  Plain radiograph of a patient with
extremity weakness. The conus medullaris normally ends at L1 or diastematomyelia in the thoracic spine. Note the interpedicular
L2 after 2 months of age. In this patient, the filum terminale is widening around the level of the lesion. The diastematomyelia
thickened, appearing to “tether” the conus medullaris distally. spur itself is visible as a spicule of bone in the spinal canal (arrow).

FIGURE 36-34  CT scan of a patient with diastematomyelia.
spinal cord or cauda equina, check-reining its normal ascent
during growth of the vertebral column.
Clinical Features
Abnormalities of motor function in the lower limbs are not
ordinarily detected at birth. Hallmarks of the condition are
the various types of skin defects found near the midline at
the level of the lesion. The cutaneous abnormalities include
abnormal tufts of hair, dimpling of the skin, ill-defined
subcutaneous fatty tumors, and cutaneous vascular malfor-
mations. Back and lower extremity symptoms are highly
variable and depend on the extent of interference with cord
function.
Radiographic Findings
The hallmark of diastematomyelia on plain radiographs of
the spine is a widening of the interpedicular distance in the
region of the diastematomyelia itself. Often, the posterior
elements are incompletely formed in this region. There may
be associated congenital vertebral anomalies at or remote
from the level of the diastematomyelia. CT and MRI allow
accurate localization and depiction of the lesion (Fig.
36-35).31,36
Treatment
The purpose of surgery in patients with diastematomyelia
is to prevent progressive neurologic deficit. Patients who
have no symptoms, no neurologic abnormalities, and no
orthopaedic physical findings can be carefully observed
with serial examinations. Neurosurgical excision of the
septum is recommended when there is a progressive neu-
rologic deficit or the recent development of neurologic dys-
function. Neurosurgical resection of the lesion is also
normally indicated when surgical correction of an associ-
ated spinal deformity is planned to prevent acute deteriora-
tion of spinal cord function during correction. Finally, in
some patients, prophylactic excision may be warranted if
the risk of developing neurologic dysfunction is deemed to
be high.
CHAPTER 36  Disorders of the Spinal Cord e171
FIGURE 36-35  MRI scan of a patient with diastematomyelia. Note
the splitting of the spinal cord around the osteocartilaginous
spicule.
Spina Bifida Occulta
Failure of fusion of one or more vertebral arches is perhaps
the most common congenital anomaly of the spinal column
and, in most individuals, it is a normal variation. Spina bifida
occulta is most commonly noted in the fifth lumbar and first
sacral vertebrae; it may also be seen in the cervical, lower
thoracic, and lower sacral spine of affected individuals.
The radiographic presence of spina bifida occulta is of no
clinical significance in most patients. The diagnosis is typi-
cally made incidentally when radiographs of the spine are
obtained for some other purpose. Provided that there are
no symptoms or physical abnormalities in the spine or lower
extremities of such patients, no further investigation or
management is required (Fig. 36-36).
A very small percentage of individuals have an intrathecal
anomaly, such as lipoma or thickening of the filum termi-
nale, in association with spina bifida occulta. The physician
should search for evidence of any skin abnormality over the
midline posterior spine, lower extremity deformity, or neu-
rologic abnormality. If present, MRI evaluation of the spinal
cord and consultation with a neurosurgeon should be
obtained.
Caudal Regression Syndrome (Sacral and
Lumbosacral Agenesis)
Caudal regression syndrome (lumbosacral or sacral agene-
sis) is a severe axial skeletal and neural deficiency character-
ized by the absence of variable amounts of the sacrum and
lumbar spine and associated neural elements. There are
concomitant anomalies of the viscera, particularly of the
genitourinary and lower gastrointestinal systems, with resul-
tant impairment of bladder and bowel function.‖e
The failure of development ranges from mere absence of
the lower coccygeal segment to complete aplasia of verte-
brae below the 12th thoracic segment. Lesser degrees of
involvement, such as absence of the lower coccygeal
‖e
References 1, 6, 8, 14, 24, 26, 28, 35, 39.
e172 SECTION VI  Neuromuscular Disorders

A B
FIGURE 36-36  Appearance of spina bifida occulta noted incidentally on spinal radiographs. If there are no complaints or physical
abnormalities, further investigation is unnecessary. A, The most common level of spina bifida occulta is at L5 or S1. B, Spina bifida occulta
of T11 was noted incidentally on spinal radiographs taken to evaluate scoliosis. Spina bifida occulta may also be seen in the lower cervical
spine.

segments, often go unnoticed and are usually recognized

fortuitously during unrelated radiographic studies. The
more extreme degrees of involvement may be incompatible
with life.
The first known case was described in 1852; since then,
a number of review articles and case reports have appeared
in the literature.¶e
The cause of lumbosacral agenesis is unknown. A higher
than normal incidence of diabetes mellitus in the mother
has been noted repeatedly.15,26 In a rare hereditary form of
the condition, the location of the genetic defect has been
determined.21
Pathology
The gross and histologic findings depend on the level of the
lesion. In total absence of the lumbosacral spine, normal
muscle tissue is replaced by large globules of soft, deep,
yellow fat. Tendons are thin filaments but have a normal
configuration. There is an abnormal nerve root pattern at FIGURE 36-37  Renshaw type I lumbosacral agenesis. The right
the end of the spinal cord. The femoral vessels are very hemisacrum is absent, evident on the anteroposterior radiograph.
small, and the femoral nerves are represented as gross fatty (From Renshaw TS: Sacral agenesis, J Bone Joint Surg Am 60:373,
tissue adjacent to the small vessels. Afferent tracts are 1978.)
usually fairly well preserved, whereas efferent motor neuron
pathways are impaired or missing. The spinal cord does not
exhibit any lumbar enlargement or lumbosacral plexus and agenesis (Fig. 36-37). Type II is partial sacral agenesis with
terminates at a higher level than usual—for example, at T7 a partial but bilaterally symmetric defect, a stable articula-
when the vertebral column ends at the second lumbar tion between the ilia, and a normal or hypoplastic first sacral
segment; otherwise, the anatomy of the spinal cord is normal vertebra (Fig. 36-38); this is the most common type. Type
above the lesion. Unlike in myelomeningocele, CNS defor- III is variable lumbar and total sacral agenesis, with the ilia
mities above the level of the spinal cord lesion do not occur. articulating with the sides of the lowest vertebra present
However, the cervical spine should be examined radiograph- (Fig. 36-39). Type IV is variable lumbar and total sacral
ically for atlantoaxial instability or congenital anomalies.15 agenesis, with the caudal end-plate of the lowest vertebra
resting above fused ilia or an iliac amphiarthrosis (Fig.
Classification 36-40).
Renshaw Classification Guille Classification
Caudal regression syndrome has been classified by Renshaw In 2002, a new classification system was introduced by
into four types.29 Type I is total or partial unilateral sacral Guille and colleagues correlating spinal deformity and
ambulatory potential.15 They had been unable to apply
¶e
References 1-3, 12, 14-16, 24, 28, 29, 38. Renshaw’s classification to their patient population, which

B (From Renshaw TS: Sacral agenesis, J Bone
included only those with total or partial lumbar agenesis
and complete sacral agenesis. In the Guille classification,
the spinal deformities are divided into three types. In type
A, there is a slight gap between the ilia or the ilia are
fused in the midline, one or more lumbar vertebrae are
absent, and the caudal aspect of the spine articulates with
the pelvis in the midline, maintaining the vertical alignment
of the spine. In type B, the ilia are fused together, some
of the lumbar vertebrae are absent, and the most caudal
lumbar vertebra articulates with one of the ilia, with the
most caudal aspect of the spine shifted away from the
CHAPTER 36  Disorders of the Spinal Cord e173
FIGURE 36-38  Renshaw type II lumbosacral
agenesis. A, Appearance on anteroposterior
radiograph. Note the absence of the lower
sacrum and the hypoplastic first sacral
vertebra. B, The lumbopelvic articulation is
evidently stable on the lateral radiograph.
Joint Surg Am 60:373, 1978.)
midline. In type C, there is total agenesis of the lumbar
spine, the ilia are fused together, and there is a visible gap
between the most caudal intact thoracic vertebra and the
pelvis.
There appears to be crossover between Renshaw types
III and IV and Guille types A to C.
Clinical Features
The clinical appearance of the patient depends on the
extent of spinal involvement and degree of concomitant
neurologic deficit.
e174 SECTION VI  Neuromuscular Disorders
FIGURE 36-39  Renshaw type III lumbosacral
agenesis. A, On the anteroposterior radiograph,
the sacrum and lower lumbar vertebrae are absent.
The third lumbar vertebra articulates with the pelvis.
B, Appearance on the lateral radiograph. (From
Renshaw TS: Sacral agenesis, J Bone Joint Surg Am B
60:373, 1978.)
Renshaw Types
Type I. In total or partial unilateral sacral agenesis, the pelvic
ring and lumbosacral junction are intact; therefore the ver-
tebropelvic articulation is usually, but not always, stable.
The unilateral absence of the sacrum results in an oblique
lumbosacral joint and lumbar scoliosis. The scoliosis ordi-
narily is not progressive and does not require orthotic or
surgical treatment. Hips and knees are usually normal;
however, there may be a calcaneovarus deformity of the
foot. There is sensory loss corresponding to the distribution
of the involved sacral roots.
Type II. The vertebropelvic junction is stable unless there
is associated myelomeningocele. In some patients with
myelomeningocele, progressive kyphosis and paralytic
scoliosis develop, requiring surgical stabilization to facilitate
sitting. There may be associated congenital anomalies of the
spine (e.g., hemivertebrae), which may cause progressive
congenital scoliosis and require treatment by spinal fusion.
There may be associated rib anomalies, such as fusion of
adjacent ribs or absence of ribs.
Motor paralysis is present and corresponds to within one
level of the vertebral defect. Sensation is usually intact.
There may be anesthesia at S4 and distally. In patients with
associated myelomeningocele, the level of paralysis may be
higher than the level of vertebral deficit, and the sensory
loss may be more extreme. Hip dislocation occurs in type
II agenesis and may be unilateral or bilateral. The pathogen-
esis of dislocation appears to be dynamic imbalance of the
muscles controlling the hip—absence or weakness of hip
abductors-extensors versus normal motor strength of hip

B
adductors-flexors. Foot deformities and flexion deformity
of the knee are usually not marked. Most patients with type
II lumbosacral agenesis are ambulatory.
Type III. The lumbopelvic junction is relatively stable in
this type, despite the absence of the sacrum and, in some
cases, L5. Progressive kyphosis and scoliosis may develop in
these patients. The level of motor paralysis parallels the
level of vertebral deficit within one segment. Sensation is
characteristically intact, at least down to the S4 nerve root
level. In total absence of the sacrum, the buttocks are flat-
tened, the intergluteal cleft is shortened, and there is dim-
pling of each buttock lateral to the cleft. The normal
posterior convexity of the sacrococcygeal region is lost; on
CHAPTER 36  Disorders of the Spinal Cord e175
FIGURE 36-40  Renshaw type IV lumbosacral
agenesis, the most severe type. The entire sacrum
and lower lumbar spine are absent, and the
articulation between the lumbar spinal remnant
and pelvis is unstable. A, Appearance on
anteroposterior radiograph. B, Appearance on
lateral radiograph. (From Renshaw TS: Sacral
agenesis, J Bone Joint Surg Am 60:373, 1978.)
rectal examination, the concavity of the sacrum and coccyx
is absent. Hip dislocation, knee contracture, and foot defor-
mity are common in type III agenesis and may require
treatment. Patients with type III agenesis are unable to
stand and walk without appropriate orthotic support or
crutches.
Type IV. This type represents the classic, fully manifested
form of lumbosacral agenesis. Patients have short stature
and a characteristic cross-legged, Buddha-like appearance
(Fig. 36-41). The T12 vertebra is often prominent posteri-
orly. There is marked disproportion between the thorax and
pelvis. The narrow flat buttocks exhibit a depressed dim-
pling 2 or 3 inches lateral to the gluteal cleft. The normal
e176 SECTION VI  Neuromuscular Disorders
FIGURE 36-41  Clinical appearance of a 6-year-old child with type
IV lumbosacral agenesis. Note the tapering of the lower
extremities and the Buddha-like posture secondary to the flexion
contractures and webbing of the popliteal fossa.
convexity of the sacrococcygeal region is lost, and the anus
is horizontal. The pelvis is very unstable under the spine; it
tends to roll up under the thorax and drop forward, seeming
to rest anteriorly to the thoracic spine. If the patient tries
to sit unsupported, he or she is forced to use the hands for
support. In the occasional case in which the T12 vertebra
is also absent, the opposing ribs articulate in the midline
posteriorly. Almost all patients with type IV lumbosacral
agenesis develop progressive spinopelvic kyphosis and
scoliosis; they may require stabilization of the spine by
spinal fusion, although I have never undertaken this
treatment.10,27,28,30,40
The hips typically have severe restriction of motion in a
position of hip flexion-abduction contracture. The hips may
be dislocated, but in most cases they are not. Knee flexion
contractures of 50 to 60 degrees are typical, often with large
popliteal webs. Fixed deformities of the feet (calcaneus or
equinovarus) are usually seen.
Muscle paralysis and atrophy of the lower limbs are
complete at and below the knees, with no voluntary or
involuntary motor or reflex movement. Because of the
marked muscle atrophy, the lower half of the body
develops a cone-shaped appearance. An extreme (and
extremely rare) variation of this deformity is a single lower
extremity, or so-called mermaid configuration, known as
sirenomelia.14,37
Peculiarly, sensory function is relatively intact, despite
the motor deficit, and is usually present at least to the
knees. Distally, there may be spotty areas of hypesthesia or
anesthesia. Unfortunately, patients rarely have bladder or
bowel control.
The severe pelvic outlet deformity may obstruct the
lower intestinal tract, requiring colostomy. To ambulate,
patients with lumbosacral agenesis may require spinopelvic
stabilization, extension-producing releases or osteotomies at
the hips and knees, and extensive orthotic support.
Guille Types
Type A. The functional level varies from T12 to L4. Patients
are likely to be community ambulators regardless of the
levels involved, and they often use braces and crutches for
assistance.
Type B. The functional level is T12 or L1. Although house-
hold ambulation may be possible, wheelchairs are usually
necessary.
Type C. Patients are nonambulators. For all three types
proposed by Guille and colleagues, there was no correlation
between the degree of hip dysplasia and level of spinal
involvement or motor power.
Treatment
The treatment of patients with caudal regression syndrome
must be individualized based on the severity of the lower
extremity deformity and motor paralysis and the patient’s
motivation. The absence of CNS deformities such as hydro-
cephalus and Arnold-Chiari malformations, and the preser-
vation of protective sensation in the lower extremities, can
make efforts to reconstruct the lower extremities to facili-
tate ambulation rewarding. However, the severe lower
extremity contractures associated with limited joint range
of motion and extensive motor paralysis may prevent sig-
nificant functional gains in mobility for more severely
affected individuals.
In Guille’s classification scheme, correction of lower
extremity deformities in type A patients (without myelo-
meningocele) is recommended because their potential to
walk is good.15 Only in these patients did the authors con-
sider surgical reduction appropriate for those with hip
dislocation.
Knee flexion and foot deformities can be corrected by
surgical release or by shortening, corrective osteotomy. A
plantigrade foot can be provided for weight bearing with
orthotic support. Unfortunately, recurrence of knee flexion
deformity is frequent. Bilateral subtrochanteric or knee dis-
articulation amputation has been reported for patients with
severe, uncorrectable, pterygium-like knee flexion deformi-
ties.9,28,32 I have limited experience with limb ablation,
offering it only to allow better seating in patients with
seating difficulties caused by fixed abduction contracture of
the hips.
Although a number of authors have described surgical
management of spinopelvic instability, I have not found
this to be a significant problem but recognize that stabiliza-
tion of the residual spine to the pelvis may be indicated
for the rare patient who is unable to sit comfortably
because of lumbopelvic instability. Stabilization may be
attempted with rod or plate fixation of the pelvis to the
residual spine, with bone grafting between the pelvis and
spine.10,28,30,40
References
Other Forms of Spinal Dysraphism
1. Adra A, Cordero D, Mejides A, et al: Caudal regression syndrome:
etiopathogenesis, prenatal diagnosis, and perinatal management,
Obstet Gynecol Surv 49:508, 1994.

2. Andrish J, Kalamchi A, MacEwen GD: Sacral agenesis: a clinical
evaluation of its management, heredity, and associated anomalies,
Clin Orthop Relat Res 139:52, 1979.
3. Banta JV, Nichols O: Sacral agenesis, J Bone Joint Surg Am 51:693,
1969.
4. Barson AJ: The vertebral level of termination of the spinal cord
during normal and abnormal development, J Anat 106:489, 1970.
5. Berbrayer D: Tethered cord syndrome complicating spina bifida
occulta. A case report, Am J Phys Med Rehabil 70:213, 1991.
6. Boemers T, van Gool J, de Jong T, et al: Urodynamic evaluation
of children with the caudal regression syndrome (caudal dysplasia
sequence), J Urol 151:1038, 1994.
7. Bono R, Inverno M, Botteon G, et al: Clinical features and MR
imaging in children with repaired myelomeningocele, Ital J Neurol
Sci 14:553, 1993.
8. Cama A, Palmieri A, Capra V, et al: Multidisciplinary management
of caudal regression syndrome (26 cases), Eur J Pediatr Surg
6(Suppl 1):44, 1996.
9. Douglas DL, Sharrard WJ: Treatment of lumbosacral agenesis by
through-knee amputation and femoral osteotomy, J R Coll Surg
Edinb 33:219, 1988.
10. Dumont CE, Damsin JP, Forin V, et al: Lumbosacral agenesis.
Three cases of reconstruction using Cotrel-Dubousset or L-rod
instrumentation, Spine 18:1229, 1993.
11. Fitz CR, Harwood Nash DC: The tethered conus, Am J Roentgenol
Radium Ther Nucl Med 125:515, 1975.
12. Frantz CH, Aitken GT: Complete absence of the lumbar spine and
sacrum, J Bone Joint Surg Am 49:1531, 1967.
13. Goldberg C, Fenelon G, Blake NS, et al: Diastematomyelia: a
critical review of the natural history and treatment, Spine 9:367,
1984.
14. Guidera KJ, Raney E, Ogden JA, et al: Caudal regression: a review
of seven cases, including the mermaid syndrome, J Pediatr Orthop
11:743, 1991.
15. Guille JT, Benevides R, DeAlba CC, et al: Lumbosacral agenesis:
a new classification correlating spinal deformity and ambulatory
potential, J Bone Joint Surg Am 84:32, 2002.
16. Harlow CL, Partington MD, Thieme GA: Lumbosacral agenesis:
clinical characteristics, imaging, and embryogenesis, Pediatr Neu-
rosurg 23:140, 1995.
17. Heinz ER, Rosenbaum AE, Scarff TB, et al: Tethered spinal cord
following meningomyelocele repair, Radiology 131:153, 1979.
18. Herman JM, McLone DG, Storrs BB, et al: Analysis of 153
patients with myelomeningocele or spinal lipoma reoperated upon
for a tethered cord. Presentation, management and outcome,
Pediatr Neurosurg 19:243, 1993.
19. Kadziolka R, Asztely M, Hanai K, et al: Ultrasonic measurement
of the lumbar spinal canal. The origin and precision of the recorded
echoes, J Bone Joint Surg Br 63:504, 1981.
20. Leung YL, Buxton N: Combined diastematomyelia and hemiver-
tebra: a review of the management at a single centre, J Bone Joint
Surg Br 87:1380, 2005.
21. Lynch SA, Bond PM, Copp AJ, et al: A gene for autosomal domi-
nant sacral agenesis maps to the holoprosencephaly region at 7q36,
Nat Genet 11:93, 1995.
22. McLone DG, Herman JM, Gabrieli AP, et al: Tethered cord as a
cause of scoliosis in children with a myelomeningocele, Pediatr
Neurosurg 16:8, 1990.
23. Miller JH, Reid BS, Kemberling CR: Utilization of ultrasound in
the evaluation of spinal dysraphism in children, Radiology 143:737,
1982.
24. Miller P, Herndon WA, Yngve DA: Lumbosacral agenesis, Ortho-
pedics 8:1297, 1985.
25. Ohe N, Futamura A, Kawada R, et al: Secondary tethered cord
syndrome in spinal dysraphism, Child’s Nerv Syst 16:457, 2000.
26. Perrot LJ, Williamson S, Jimenez JF: The caudal regression syn-
drome in infants of diabetic mothers, Ann Clin Lab Sci 17:211,
1987.
CHAPTER 36  Disorders of the Spinal Cord e177
27. Perry J, Bonnett CA, Hoffer MM: Vertebral pelvic fusions in the
rehabilitation of patients with sacral agenesis, J Bone Joint Surg Am
52:288, 1970.
28. Phillips WA, Cooperman DR, Lindquist TC, et al: Orthopaedic
management of lumbosacral agenesis. Long-term follow-up, J Bone
Joint Surg Am 64:1282, 1982.
29. Renshaw TS: Sacral agenesis, J Bone Joint Surg Am 60:373,
1978.
30. Rieger MA, Hall JE, Dalury DF: Spinal fusion in a patient with
lumbosacral agenesis, Spine 15:1382, 1990.
31. Rossi A, Cama A, Piatelli G, et al: Spinal dysraphism: MR imaging
rationale, J Neuroradiol 31:3, 2004.
32. Russell HE, Aitken GT: Congenital absence of the sacrum and
lumbar vertebrae with prosthetic management, J Bone Joint Surg
Am 45:501, 1963.
33. Sarwark JF, Weber DT, Gabrieli AP, et al: Tethered cord syndrome
in low motor level children with myelomeningocele, Pediatr Neu-
rosurg 25:295, 1996.
34. Sharony R, Aviram R, Tohar M, et al: Prenatal sonographic detec-
tion of a lipomeningocele as a sacral lesion, J Clin Ultrasound
28:150, 2000.
35. Sparnon AL, Ahmed S: Urological anomalies in the caudal regres-
sion syndrome, Aust N Z J Surg 54:365, 1984.
36. Suh SW, Sarwark JF, Vora A, et al: Evaluating congenital spine
deformities for intraspinal anomalies with magnetic resonance
imaging, J Pediatr Orthop 21:p525, 2001.
37. Towfighi J, Housman C: Spinal cord abnormalities in caudal regres-
sion syndrome, Acta Neuropathol (Berl) 81:458, 1991.
38. Van Buskirk CS, Ritterbusch JF: Natural history of distal spinal
agenesis, J Pediatr Orthop 6:146, 1997.
39. Wilmshurst JM, Kelly R, Borzyskowski M: Presentation and
outcome of sacral agenesis: 20 years’experience, Dev Med Child
Neurol 41:806, 1999.
40. Winter RB: Congenital absence of the lumbar spine and sacrum:
one-stage reconstruction with subsequent two-stage spine length-
ening, J Pediatr Orthop 11:666, 1991.
41. Winter RB, Haven JJ, Moe JH, et al: Diastematomyelia and con-
genital spine deformities, J Bone Joint Surg Am 56:27, 1974.
Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a hereditary disease char-
acterized by degeneration of the anterior horn cells of the
spinal cord and occasionally of the motor neurons of the
cranial nerves (cranial nerves V through XII). The classic
infantile form of SMA was first described by Werdnig in
189139; the less severe form was described by Kugelberg and
Welander much later, in 1956.19 SMA manifests with pro-
gressive hypotonia and weakness involving the lower
extremities to a greater degree than the upper extremities
and the proximal muscles more than the distal. Sensation
is normal, as is intelligence. The incidence of SMA is
approximately 1 in 15,000 to 20,000 live births,8 and the
prevalence of the carrier state is 1 in 80.
Pathogenesis
Spinal muscular atrophy is usually inherited in an autosomal
recessive pattern. It is the second most common disease
inherited in this manner to affect children, after cystic
fibrosis.8 The genetic locus for SMA has been identified on
chromosome 5q.8 At this 5q locus, two genes have been
identified: the gene for neuronal apoptosis inhibitory protein
(NAIP), which is present in 67% of patients, and the
e178 SECTION VI  Neuromuscular Disorders

survival motor neuron (SMN) gene, which was found to

have deletions in more than 98% of SMA patients.8,20 A less
common form of the disease is inherited in an autosomal
dominant pattern, and its genetic locus is on 5q13.5,29
Although the SMN protein has been linked with RNA
metabolism—interacting with RNA-binding protein, which
is present in the nucleus and cytoplasm of motor neurons—
its precise role is under investigation.24 With molecular
genetic technology, first-trimester prenatal diagnosis is now
possible.21,40

Classification
Spinal muscular atrophy is an extremely heterogeneous
condition, with a wide variety of clinical manifestations.
Classification systems have been developed primarily for
prognostic value. The Byers and Banker classification is the
one used most often.10,11 It defines three different types of
SMA—type I, acute infantile SMA or Werdnig-Hoffmann
disease; type II, chronic infantile SMA; and type III, a
milder form, also known as Kugelberg-Welander disease.
These types are genetically similar but differ in age of pre-
sentation and clinical course. As a rule, the younger the age
at disease onset, the worse the prognosis. Although there is
some overlap with other classification factors, management
FIGURE 36-42  Infant with type I spinal muscular atrophy. The
decisions are usually based on age at onset.
hips are held in abduction, flexion, and extension rotation. There
Type I: Acute Infantile is obvious respiratory compromise. (Courtesy Dr. Susan
Iannacone.)
Type I SMA is usually identified between birth and age 6
months. Abnormal inactivity of the fetus in late pregnancy
is reported by most mothers of affected babies. The newborn
is floppy and inactive, with little or no movement of the
arms or legs. The hips assume a characteristic posture, flop-
ping into abduction, flexion, and external rotation, with
flexion of the knees (Fig. 36-42). Finger and toe movement
is usually present because the distal musculature is rela-
tively spared. Head control is absent, and the infant cannot
lift the head. The growing infant is unable to roll over or
sit.
Physical examination reveals a lack of deep tendon
reflexes. Tongue fasciculations are characteristic. The dia-
phragm is unaffected, but the intercostals are involved,
leading to paradoxical respiratory movements. The face may
appear expressionless because the facial muscles are very
weak, but these children usually interact normally for their
age. Because of easy fatigability during feeding, they are
often malnourished and lose weight.
The clinical course of type I SMA is one of relentless
progression, usually leading to death by age 2 years second-
ary to pneumonia.18 Longer survival has been reported.28
Poorer survival has been linked to presentation at younger FIGURE 36-43  Seven-year-old boy with type II spinal muscular
than 2 months.33 atrophy. He has bilateral hip dislocation and diffuse weakness and
uses a wheelchair for mobility.
Because of the poor medical prognosis in acute Werdnig-
Hoffmann SMA, orthopaedic treatment is rarely indicated.
Birth fractures may occur and heal readily with splinting.9
Medical trials are ongoing but have yet to be proven triceps reflex may be preserved in the very young. Tongue
effective 35 fasciculations and upper extremity tremors may be noted.
These infants achieve head control, and approximately
Type II: Chronic Infantile 75% of affected children develop sitting balance. They do
Type II SMA is diagnosed between 6 and 12 months of age. not develop the ability to walk and require wheelchairs for
Muscular weakness is greater in the lower limbs than in the mobility (Fig. 36-43). Survival is better than in type I SMA,
arms. The patellar reflex is absent, but the biceps and with some patients living into the fifth decade.

Type III: Kugelberg-Welander
Type III SMA is usually diagnosed between 2 and 15 years
of age. The presenting symptoms are related to hip extensor
weakness, such as difficulty rising from the floor and climb-
ing stairs. These patients have a Trendelenburg lurch and
increased lumbar lordosis secondary to the hip abductor and
extensor weakness. Because of quadriceps weakness, the
knees are often in recurvatum. Type III SMA in males may
initially be confused with Duchenne or Becker muscular
dystrophy. Pseudohypertrophy of the calf may further con-
found the diagnosis. These patients walk early in life; most
maintain their ambulatory skills into adolescence but
become wheelchair-bound in adulthood. The life span is
almost normal.
Grading
A functional grading of SMA has been proposed by Evans
and colleagues.13 This grading scale focuses on the highest
function achieved rather than the age at onset and is helpful
in planning the orthopaedic treatment of a child with SMA
(Table 36-1).
Differential Diagnosis
Infantile SMA must be distinguished from cerebral palsy,
which may present with hypotonia and flaccidity in a young
infant. Congenital muscular dystrophy may also resemble
SMA. Transverse myelitis may result from obstetric delivery
and produce flaccid paralysis of the limbs and trunk. The
characteristic tongue fasciculations, which occur in 56% of
patients with SMA but are absent in all other neuromuscu-
lar diseases of infancy, can assist the clinician in making the
diagnosis.18 The differential diagnosis of hypotonia in infants
and children is given in Table 36-2.
Diagnostic Evaluation
The diagnostic workup for SMA has changed significantly
with the discovery of the SMN gene. An initial history
should seek delays in reaching motor milestones, and the
physical examination should concentrate on assessing the
neurologic status of the patient, especially the deep tendon
reflexes, and noting the presence of tongue fasciculations.
Patients with SMA types I and II may demonstrate a fine
tremor in the fingers (polyminimyoclonus).
Table 36-1  Functional Grading of Spinal
Muscular Atrophy
Grade Description
I Child cannot sit independently, has poor head
control; early scoliosis is present
II Head control is present, sitting is possible, but
child unable to stand or walk
III Child can pull up to stand and walk with support
IV Child can walk and run independently
CHAPTER 36  Disorders of the Spinal Cord e179
Once a patient is suspected of having SMA based on the
physical examination, the first diagnostic test is done to
identify the SMN gene. Some deletions in this gene are
found in more than 98% of patients with SMA. Absence of
the SMN gene raises the suspicion that the patient does not
have SMA; however, further laboratory evaluations should
be performed. These include determination of serum cre-
atine phosphokinase and aldolase levels, which are usually
normal, although there may be mild elevations in SMA type
III patients. Motor and sensory nerve conduction velocities
must be normal for the diagnosis of SMA. Electromyogra-
phy demonstrates denervation with fibrillation potentials
and reinnervation in the form of large polyphasic motor
units and increased recruitment. If muscle biopsy is per-
formed, it usually demonstrates neurogenic atrophy, evi-
dence of reinnervation, or both. In the infantile pattern of
neurogenic atrophy, preservation of large round fibers and
denervated fasciculi are seen.
Treatment
Orthopaedic Treatment
The orthopaedic treatment of children with SMA addresses
three concerns—development of contractures of the lower
extremities, hip subluxation or dislocation, and scoliosis.
Contractures
Flexion contractures of the hips and knees invariably
develop in children with SMA who are unable to walk. The
role of surgical release of contractures is controversial. The
function of a nonwalking child is rarely improved by surgical
tenotomies, and recurrence of contractures is universal in
sitters. Equinus contractures can occur in nonambulatory
patients and may rarely develop in walking patients with
SMA. Wang and co-workers noted that 89% of patients with
type II SMA had knee flexion contractures, and 50% of all
patients had equinus contractures.37 Cavovarus foot defor-
mities have also been described in ambulatory patients.13
Hip Subluxation and Dislocation
Hip subluxation and dislocation are common in nonambula-
tory patients with SMA (Fig. 36-44).30 Proximal muscle
weakness predisposes to coxa valga, which leads to uncover-
age of the hips. Granata and associates found that radio-
graphs of the hips were normal in only 31% of nonambulatory
patients; the incidence of hip subluxation or dislocation in
ambulatory patients was 50%.15 In a nonambulatory patient,
unilateral dislocation leads to uneven seating pressure. Bilat-
eral dislocation does not predispose to pelvic obliquity but
can accentuate lumbar hyperlordosis. Although the problem
of hip instability is well recognized in SMA, management
remains controversial because pain is uncommon and treat-
ment is difficult.32
Passive stretching exercises with release of contracted
muscles have been advocated for the treatment of hip dys-
plasia.13 Surgical reconstruction of a unilateral subluxated
or dislocated hip in a nonambulatory patient, consisting of
varus derotation femoral osteotomy with or without capsu-
lorrhaphy, has been advocated by Shapiro and Specht (Fig.
36-45)31; however, poor results caused by redislocation have
been reported.34,42 I generally do not advocate reduction of
 Table 36-2  Classification and Differential Diagnosis of Hypotonic Child Syndrome
Cerebral Progressive Benign
Hypotonic Infantile Muscular Acute Infective Juvenile Muscular Congenital
e180

Parameter Diplegia Atrophy Polyneuritis Myasthenia Gravis Dystrophy Polymyositis Hypotonia

Site of lesion Cerebrum Anterior horn cells Peripheral Myoneural junction Skeletal muscle Skeletal muscle Skeletal muscle
nerves
Inheritance None Recessive None Not defined Sex-linked None None
Gender preponderance None None None Female Male Female None
Limb musculature Distal more than Generalized Distal more than Generalized Proximal Proximal Generalized
involved proximal proximal
Cranial muscle paresis Facial and Bulbar in late Facial common; Eyelids very None Pharyngeal (50%) None
pseudobulbar stages bulbar less common; ocular,
common facial, bulbar
Respiratory paralysis None Common Less common Common (43%) Late Occasional Mild
SECTION VI  Neuromuscular Disorders

Muscle fasciculations None Common Less common None None None None
Muscle atrophy Moderate Severe Moderate to Mild Severe Mild (with Moderate
severe tenderness)
Pseudohypertrophy None None None None Characteristic Occasional None
Deep tendon reflexes Brisk or normal Absent Absent Normal Variable, usually Variable, usually Normal or
depressed depressed depressed
Sensory defect Cortical None Frequent None None Usually none None
Mental defect Severe None None None Moderate None None or moderate
Muscle biopsy Normal Grouped atrophy Atrophy Lymphorrhages Degeneration, Degeneration, Small fibers
variation in inflammatory
fiber size cells
Electromyography Normal Fibrillations; sparse, Fibrillations; Decline in amplitude Short, low- Fibrillations; short, Normal or
giant action sparse action of potentials amplitude low-amplitude low-amplitude
potentials potentials potentials potentials potentials
Serum creatine kinase, Normal Normal Normal Normal Increased Increased Normal
aspartate
transaminase, aldolase
Spinal fluid protein Normal Normal Often high Normal Normal Usually normal Normal
Specific therapy None None Steroids (?) Rest and None Steroids None
anticholinesterase
drugs
Course Nonprogressive Rapid Acute or Prolonged, remittent Chronic Acute, subacute, Nonprogressive
subacute or chronic
Prognosis Severe chronic Fatal, usually Recovery in Complete remission Fatal within Remission in 80% Gradual
disability within 2 yr 80% in 25% within 20-30 yr improvement
(4 wk-20 yr) 6 yr; fatal in 5%

From Millichap JG: The hypotonic child. In Kelley V, editor: Brennerman-Kelley practice of pediatrics, vol 4, Hagerstown, Md, 1966, Harper & Row.

FIGURE 36-44  Bilateral hip dislocation in a 3-year-old boy with
chronic infantile spinal muscular atrophy is seen in this
radiograph.
these hips because improvement in function is improbable
and the risk of complications is high.
Scoliosis
Scoliosis is universal in nonambulatory patients with SMA
and is prevalent in children with the Kugelberg-Welander
form of the disease as well. Granata and associates found
that all but one of their patients with the infantile form of
SMA developed scoliosis; the mean age at which a curve
was discovered was 4 years 4 months.16 All patients with
mild SMA who lost the ability to ambulate also developed
scoliosis, although at an older age, 9 years 10 months. Of
19 ambulatory patients, 12 developed scoliosis while able
to walk, but the curves tended to progress more slowly than
in sitting patients. Others have had similar findings.13
Long sweeping curves are most common in SMA, with
a predominance of thoracolumbar curves (Fig. 36-46). A
meta-analysis found 12% thoracic curves, 62% thoracolum-
bar curves, 10% lumbar curves, and 16% double major
curves.31 The single curves tend to be convex to the right,
and double curve patterns have right thoracic and left
lumbar curves. Kyphosis is present in association with sco-
liosis in approximately 30% of patients.16 Despite the often
large magnitude of the curves, they are more flexible than
those seen in typical idiopathic scoliosis; however, they
progress more rapidly.
Nonsurgical Treatment. Nonoperative treatment of scolio-
sis in SMA is difficult. Orthoses make sitting easier, but
they are ineffective in preventing curve progression or alter-
ing the need for surgery.13,16,23 Curves in nonambulatory
patients were found to increase at a rate of 8 degrees/year,
despite brace use.23 Respiratory function may be signifi-
cantly depressed in patients with severe SMA, and rigid
CHAPTER 36  Disorders of the Spinal Cord e181
orthoses can further tax their compromised respiratory
status. Seating systems that support flexible curves are
usually better tolerated than rigid orthoses.1 A soft, custom-
made thoracolumbosacral orthosis may be tolerated in
young children with flexible curves between 20 and 40
degrees to allow growth before definitive instrumentation
and fusion.4
Surgical Treatment. The indications for surgical treatment
are progressive spinal deformity despite orthotic manage-
ment, with a curve magnitude greater than 50 to 65 degrees.
A frank discussion among the family, surgeon, and neurolo-
gist should occur before the decision is made to proceed
with surgery. Physical therapy before surgery can improve
walking ability in an ambulatory patient, as well as sitting
tolerance.17 Preoperative traction is an excellent way to
increase the flexibility of the spine while also improving
pulmonary function.1,25
Posterior spinal fusion with segmental spinal instrumen-
tation is the treatment of choice for scoliosis in patients who
can tolerate surgery. Fusion should include the entire tho-
racic and lumbar spine and should extend to the pelvis.
Traditionally, Luque-Galveston instrumentation and unit
rod fixation have been used in these children (Fig. 36-47).3,7
Other fixation methods are available and useful, including
multiple hook and/or screw systems and alternatives to
fixation to the pelvis using iliac screws (Fig. 36-48). The
goal of surgery is to obtain a balanced trunk over a level
pelvis to facilitate comfortable seating (Fig. 36-49). Ante-
rior fusion is generally contraindicated in most patients; the
risk of surgery in the chest that involves the diaphragm
outweighs the potential problems from continued anterior
growth and the crankshaft phenomenon. Despite the lack
of anterior surgery, a recent multicenter report found main
curve progression in only 8 of 22 patients, 4 of whom had
short fusions.41 Recently there have been reports of the
successful use of growing rod techniques to manage young
patients with severe spine deformity.12,22 Although these
reports are encouraging, it is important to weigh the burden
of multiple operations with a high likelihood of complica-
tions associated with growing rods against the good results
reported with single-stage, definitive surgery.
Shapiro and Specht compiled the results of several
studies of posterior spinal fusion in older patients with
SMA.31 The average age at surgery was 13.5 years. The
average deformity was 90 degrees, and the average correc-
tion achieved after surgery was 43%. Based on their find-
ings, they recommended earlier surgery to allow for less
residual curve after instrumentation and fusion. They pro-
posed that surgery be considered in patients older than 10
years with curves greater than 40 degrees and forced vital
capacities greater than 40% of normal.
The early postoperative course can be difficult because
of the pulmonary issues in these patients, and ventilatory
support is necessary. Atelectasis and pneumonitis are more
frequent in patients undergoing anterior surgery than in
those having posterior spinal fusion.1 Although uncommon,
long-term complications include pseudarthrosis with loss of
correction, prominent implants, pulmonary embolism, and
diaphragmatic rupture with significant pulmonary compro-
mise. The risk of postoperative complications is greater with
larger curves and in older patients.26
e182 SECTION VI  Neuromuscular Disorders

C D
FIGURE 36-45  A, Radiographic appearance in a 12-year-old boy with hip subluxation secondary to spinal muscular atrophy. B, Femoral
and Dega pelvic osteotomies were performed on the right hip. C, The right hip remained stable 2 years following surgery. D, At age 14,
the patient continued to walk, but scoliosis had developed.
 CHAPTER 36  Disorders of the Spinal Cord e183

A B

C D
FIGURE 36-46  A, Thoracolumbar scoliosis in a 3-year-old boy with type II spinal muscular atrophy. B and C, Clinical appearance at age 9
years. The boy props himself up with his upper extremities to maintain sitting balance. D, The magnitude of the thoracolumbar curve has
significantly increased.
e184 SECTION VI  Neuromuscular Disorders

FIGURE 36-47  Posterior spinal fusion with Luque-Galveston instrumentation to the

pelvis in the 9-year-old boy shown in Figure 36-46.

A B
FIGURE 36-48  A, Preoperative radiograph demonstrates a severe, long-sweeping, left thoracolumbar curve and left truncal imbalance.
B, Posteroanterior radiograph 2 years after posterior spinal fusion and instrumentation from T2 to the pelvis, with multiple pedicle screws
in the thoracic and lumbar spine and iliac screws in the pelvis.
 CHAPTER 36  Disorders of the Spinal Cord e185

A B
FIGURE 36-49  A, Posteroanterior spinal radiograph of a 12-year-old boy with type II spinal muscular atrophy. B, Sitting balance has been
improved by posterior spinal fusion with Dunn-McCarthy instrumentation to the pelvis.

Although curve correction and stabilization can be
achieved through spinal arthrodesis, the tradeoff is a pos-
sible decline in the ability to carry out ADLs. Specifically,
the rigid and upright spine creates difficulty in self-feeding,
drinking, and self-hygiene because the patient cannot bring
his or her hands up to the face because of upper extremity
proximal muscle weakness.7,13 Most studies, however,
report patient and family satisfaction and a willingness to
choose the surgery again if faced with that decision.1,6
Patients most at risk for losing function are those who are
weakest preoperatively.14 In general, an improved outcome
was seen in sitting balance, cosmesis with respect to trunk
position, and overall quality of life; intermediate to good
outcomes were seen with regard to pulmonary status, pain,
and self-image. Counseling patients and their families before
surgery is essential. Occupational therapists should evaluate
the children for the appropriateness of adaptive equipment
following surgery.
There are conflicting reports in the literature regarding
the effect of scoliosis surgery on pulmonary function. There
is agreement that a decline in respiratory status correlates
with an increasingly severe scoliosis.27 Some authors have
found that respiratory parameters improve after spinal
arthrodesis,27 whereas others have found a continuous
decline in pulmonary function.1,25 Nonetheless, aggressive
pulmonary care must be provided perioperatively to avoid
respiratory complications such as pneumonia and the need
for prolonged mechanical ventilation.
Scoliosis in an ambulatory patient poses a treatment
dilemma. Up to 50% of walking patients develop scoliosis.
Often, lumbar lordosis and pelvic motion compensate for
the proximal muscle weakness of the lower extremities and
are essential to the gait in these patients. Because the ability
to walk may be lost in some patients after spinal arthro­
desis,13,14 surgical treatment of scoliosis should be delayed
when reasonable in ambulatory patients.31 When necessary,
fusion can be stopped proximal to the pelvis (Fig. 36-50).
Medical Treatment
There is currently no effective drug treatment for SMA.35,36
In a few reported cases, the life span of affected individuals
has been significantly expanded by the use of intermittent
positive-pressure ventilation, with and without tracheos-
tomy.2,38 Proposed future therapies for SMA patients
include increasing the transcription level of SMN RNA,
stabilization of the SMN protein, repair of degenerated
motor neurons, and stem cell therapy to replace degener-
ated motor neurons.35,40
e186 SECTION VI  Neuromuscular Disorders

A B

FIGURE 36-50  A, Posteroanterior standing spinal

radiograph of an ambulatory 13-year-old girl with
type III spinal muscular atrophy. B and C, Clinical
appearance of the girl. Note the anterior pelvic tilt,
hip flexion, and excessive spinal lordosis. D, Posterior
spinal fusion was performed using Luque
instrumentation to L5 to allow pelvic motion during
gait. She remained a limited ambulator 2 years after C D
surgery.

4. Bowen JR, Forlin E: Spinal muscular atrophy. In Weinstein SL,

References
Spinal Muscular Atrophy
1. Aprin H, Bowen JR, MacEwen GD, et al: Spine fusion in patients
with spinal muscular atrophy, J Bone Joint Surg Am 64:1179, 1982.
2. Bach JR, Wang TG: Noninvasive long-term ventilatory support for
individuals with spinal muscular atrophy and functional bulbar
musculature, Arch Phys Med Rehabil 76:213, 1995.
3. Bell DF, Moseley CF, Koreska J: Unit rod segmental spinal instru-
mentation in the management of patients with progressive neuro-
muscular spinal deformity, Spine 14:1301, 1989.
editor: The pediatric spine: principles and practice, New York,
1994, Raven Press, p 1025.
5. Boylan KB, Cornblath DR, Glass JD, et al: Autosomal dominant
distal spinal muscular atrophy in four generations, Neurology
45:699, 1995.
6. Bridwell KH, Baldus C, Iffrig TM, et al: Process measures and
patient/parent evaluation of surgical management of spinal defor-
mities in patients with progressive flaccid neuromuscular scoliosis
(Duchenne’s muscular dystrophy and spinal muscular atrophy),
Spine 24:1300, 1999.

7. Brown JC, Zeller JL, Swank SM, et al: Surgical and functional
results of spine fusion in spinal muscular atrophy, Spine 14:763,
1989.
8. Brzustowicz LM, Lehner T, Castilla LH, et al: Genetic mapping of
chronic childhood-onset spinal muscular atrophy to chromosome
5q11.2-13.3, Nature 344:540, 1990.
9. Burke SW, Jameson VP, Roberts JM, et al: Birth fractures in spinal
muscular atrophy, J Pediatr Orthop 6:34, 1986.
10. Byers RK, Banker BQ: Infantile muscular atrophy: an eleven-year
experience, Trans Am Neurol Assoc 85:10, 1960.
11. Byers RK, Banker BQ: Infantile muscular atrophy, Arch Neurol
5:140, 1961.
12. Chandran S, McCarthy J, Noonan K, et al: Early treatment of
scoliosis with growing rods in children with severe spinal muscular
atrophy: a preliminary report, J Pediatr Orthop 31:450, 2011.
13. Evans GA, Drennan JC, Russman BS: Functional classification and
orthopaedic management of spinal muscular atrophy, J Bone Joint
Surg Br 63:516, 1981.
14. Furumasu J, Swank SM, Brown JC, et al: Functional activities in
spinal muscular atrophy patients after spinal fusion, Spine 14:771,
1989.
15. Granata C, Magni E, Merlini L, et al: Hip dislocation in spinal
muscular atrophy, Chir Organi Mov 75:177, 1990.
16. Granata C, Merlini L, Magni E, et al: Spinal muscular atrophy:
natural history and orthopaedic treatment of scoliosis, Spine
14:760, 1989.
17. Hensinger RN, MacEwen GD: Spinal deformity associated with
heritable neurological conditions: spinal muscular atrophy, Fried-
reich’s ataxia, familial dysautonomia, and Charcot-Marie-Tooth
disease, J Bone Joint Surg Am 58:13, 1976.
18. Iannaccone ST, Browne RH, Samaha FJ, et al: Prospective study
of spinal muscular atrophy before age 6 years. DCN/SMA Group,
Pediatr Neurol 9:187, 1993.
19. Kugelberg E, Welander L: Heredofamilial juvenile muscular
atrophy simulating muscular dystrophy, AMA Arch Neurol Psy-
chiatry 75:500, 1956.
20. Lefebvre S, Burglen L, Reboullet S, et al: Identification and char-
acterization of a spinal muscular atrophy-determining gene, Cell
80:155, 1995.
21. Lo Cicero S, Capon F, Melchionda S, et al: First-trimester prenatal
diagnosis of spinal muscular atrophy using microsatellite markers,
Prenat Diagn 14:459, 1994.
22. McElroy MJ, Shaner AC, Crawford TO, et al: Growing rods for
scoliosis in spinal muscular atrophy: structural effects, complica-
tions, and hospital stays, Spine (Phila Pa 1976) 36:1305, 2011.
23. Merlini L, Granata C, Bonfiglioli S, et al: Scoliosis in spinal mus-
cular atrophy: natural history and management, Dev Med Child
Neurol 31:501, 1989.
24. Novelli G, Calza L, Amicucci P, et al: Expression study of survival
motor neuron gene in human fetal tissues, Biochem Mol Med
61:102, 1997.
25. Piasecki JO, Mahinpour S, Levine DB: Long-term follow-up of
spinal fusion in spinal muscular atrophy, Clin Orthop Relat Res
207:44, 1986.
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26. Riddick MF, Winter RB, Lutter LD: Spinal deformities in patients
with spinal muscle atrophy: a review of 36 patients, Spine 7:476,
1982.
27. Robinson D, Galasko CS, Delaney C, et al: Scoliosis and lung
function in spinal muscular atrophy, Eur Spine J 4:268, 1995.
28. Russman BS, Iannacone ST, Buncher CR, et al: Spinal muscular
atrophy: new thoughts on the pathogenesis and classification
schema, J Child Neurol 7:347, 1992.
29. Schrank B, Gotz R, Gunnersen JM, et al: Inactivation of the sur-
vival motor neuron gene, a candidate gene for human spinal mus-
cular atrophy, leads to massive cell death in early mouse embryos,
Proc Natl Acad Sci U S A 94:9920, 1997.
30. Schwentker EP, Gibson DA: The orthopaedic aspects of spinal
muscular atrophy, J Bone Joint Surg Am 58:32, 1976.
31. Shapiro F, Specht L: The diagnosis and orthopaedic treatment of
childhood spinal muscular atrophy, peripheral neuropathy, Fried-
reich ataxia, and arthrogryposis, J Bone Joint Surg Am 75:1699,
1993.
32. Sporer SM, Smith BG: Hip dislocation in patients with spinal
muscular atrophy, J Pediatr Orthop 23:10, 2003.
33. Thomas NH, Dubowitz V: The natural history of type I (severe)
spinal muscular atrophy, Neuromuscul Disord 4:497, 1994.
34. Thompson CE, Larsen LJ: Recurrent hip dislocation in intermedi-
ate spinal atrophy, J Pediatr Orthop 10:638, 1990.
35. Wadman RI, Bosboom WM, van den Berg LH, et al: Drug treat-
ment for spinal muscular atrophy type I, Cochrane Database Syst
Rev 4:CD006281, 2011.
36. Wadman RI, Bosboom WM, van der Pol WL, et al: Drug treatment
for spinal muscular atrophy types II and III, Cochrane Database
Syst Rev 4:CD006282, 2012.
37. Wang HY, Ju YH, Chen SM, et al: Joint range of motion limitations
in children and young adults with spinal muscular atrophy, Arch
Phys Med Rehabil 85:1689, 2004.
38. Wang TG, Bach JR, Avilla C, et al: Survival of individuals with
spinal muscular atrophy on ventilatory support, Am J Phys Med
Rehabil 73:207, 1994.
39. Werdnig G: [Zwei fruhim famile hereditare Fall von progressiver
Muskelatrophie unter dem Bild der Dystrophie, aber auf neuro-
tischer Grundlage.] Arch Psychiatr 22:237, 1891.
40. Wirth B, Rudnik-Schoneborn S, Hahnen E, et al: Prenatal predic-
tion in families with autosomal recessive proximal spinal muscular
atrophy (5q11.2-q13.3): molecular genetics and clinical experi-
ence in 109 cases, Prenat Diagn 15:407, 1995.
41. Zebala LP, Bridwell KH, Baldus C, et al: Minimum 5-year radio-
graphic results of long scoliosis fusion in juvenile spinal muscular
atrophy patients: major curve progression after instrumented
fusion, J Pediatr Orthop 31:480, 2011.
42. Zenios M, Sampath J, Cole C, et al: Operative treatment for hip
subluxation in spinal muscular atrophy, J Bone Joint Surg Br
87:1541, 2005.
e188 SECTION VI  Neuromuscular Disorders
Plate 36-1  Tibialis Tendon Transfer to the Calcaneus to Prevent or Correct Calcaneal Deformity
A B
This procedure is indicated for patients with unopposed
voluntary or involuntary ankle dorsiflexion producing
dynamic and potentially fixed calcaneal deformity of the
ankle. The patient is most conveniently positioned in the
lateral decubitus position with the affected side up, allow-
ing ready access to the anterior and posterior aspects of
the ankle and lower leg. Alternatively, especially when the
deformity is bilateral, the patient may be positioned supine,
with the leg rotated to allow somewhat awkward access to
the heel, or prone, with the knee flexed for the anterior
portions of the procedure.
Operative Technique
A, The tibialis anterior tendon is exposed at its insertion
through an incision on the dorsomedial aspect of the foot.
The tendon is sharply resected from its insertion on the base
of the first metatarsal, and a Bunnell-type suture of heavy
C
absorbable suture material is placed at its distal end. The
tendon is mobilized to the retinaculum. A second incision
is made over the anterior compartment of the lower leg,
exposing the tibialis anterior tendon and retracting it into
the proximal incision. If soft tissue contractures of the long
toe extensors or ankle capsule prevent plantar flexion of the
foot into a neutral position, these structures can be divided
through an extension of this proximal incision.
B, With displacement of the tibialis anterior superiorly and
retraction of the contents of the anterior compartment
laterally and extraperiosteally away from the tibia, the inter-
osseous membrane is identified and incised to allow passage
of the tibialis anterior tendon through it and into the pos-
terior compartment.
C, The Achilles tendon and superior aspect of the calcaneus
are exposed through an incision paralleling the lateral border
of the Achilles tendon.
 CHAPTER 36  Disorders of the Spinal Cord e189

D E

D, The tibialis anterior tendon is brought through the inter- Postoperative Management
osseous membrane into the posterior aspect of the leg. A
The patient is not permitted to bear weight in the cast while
drill hole is made in the calcaneus from its superior surface
the button is in place. The cast can be removed 2 to 3 weeks
just anterior and lateral to the insertion of the Achilles
after surgery to inspect the wounds and remove the button
tendon.
by transecting the absorbable suture at the skin. I use this
E, The tibialis anterior tendon is passed through the calca-
clinic visit to cast the patient for new ankle-foot orthoses.
neus using straight Keith needles and sutured over a pad
A new short-leg walking cast is applied, and the patient is
and button on the sole of the foot. I prefer to suture the
allowed to bear weight as tolerated. The parents must be
transferred tendon with the foot in a neutral position rather
educated to watch for evidence of skin irritation or excoria-
than plantar flexion. The tibialis anterior tendon can be
tion at the edges of the cast and the tips of the toes and to
sutured to the Achilles tendon for additional reinforcement
report breakdown of the sole of the cast. The cast is removed
of the transfer. The surgeon must be careful to avoid exces-
6 weeks after surgery, and the patient is placed in ankle-foot
sive pressure of the pad and button on the heel pad, which
or knee-ankle-foot orthoses, as needed.
could lead to pressure necrosis. The wounds are irrigated
Excessive swelling after removal of the cast may be sec-
and closed after the tourniquet has been released and hemo-
ondary to fracture of the distal tibial metaphysis. This com-
stasis achieved. A short-leg cast is applied, with meticulous
plication may be avoided by immobilizing the foot and ankle
attention to preventing wrinkles and pressure points.
in a neutral position in the cast, rather than in plantar
flexion, and by ensuring a smooth transition from cast to
orthosis postoperatively.
e190 SECTION VI  Neuromuscular Disorders

Plate 36-2  Achilles Tendon–Distal Fibular Tenodesis for Mild Ankle Valgus in Skeletally
Immature Patients

A B

The patient is placed prone on the operating table for easiest
exposure of the posterior aspect of the lower leg and heel.
Operative Technique
A, A long vertical incision is made, paralleling the lateral
border of the Achilles tendon. Through this incision, the
Achilles tendon, peroneal tendons, and posterior aspect of
the fibular shaft proximal to its physis are exposed.
B, A distally based slip (≈1 cm wide) of Achilles tendon is
fashioned. The remaining Achilles tendon is lengthened if
necessary.

C D
 CHAPTER 36  Disorders of the Spinal Cord e191

A B

C D

C, A Bunnell-type suture is passed through the proximal
free end of the slip of the Achilles tendon, tubulating the
tendon as needed. A trough is made in the posterior distal
fibular shaft and, if it is stout enough, drill holes are made
proximal to the trough to receive the suture.
D, The free slip of Achilles tendon is sutured into the
trough in the distal fibula. The transferred portion of the
Achilles tendon should be tensioned so that it is snug in
neutral ankle dorsiflexion. If the fibula is too small for holes
to be drilled in the cortex, the suture can be passed around
the shaft of the fibula or the slip of Achilles tendon can be
wrapped around the fibula and sutured to itself. The wounds
are irrigated and closed. A well-molded and padded
short-leg walking cast is applied with the foot in a neutral
position.
Postoperative Management
The patient is allowed to bear weight in the cast. The
child and parents are educated to watch for evidence of
skin irritation or excoriation at the edges of the cast and
tips of the toes and to report breakdown of the sole of
the cast. The cast is removed 6 weeks after surgery, and
the patient is placed in ankle-foot or knee-ankle-foot
orthoses, as needed.
e192 SECTION VI  Neuromuscular Disorders
Plate 36-3  Lumbar Kyphectomy in Myelomeningocele Patients With Fixation to the Pelvis Using the
Dunn-McCarthy Technique
Before this major surgical procedure is undertaken, every
effort must be made to provide stable soft tissue coverage
of the kyphotic area. The patient’s ventriculoperitoneal
shunt must be determined to be patent and functioning or
the patient must be known to be shunt-independent. The
patient is positioned prone on rolls or a Hall-Relton or
similar frame. Meticulous attention must be given to
padding bony prominences and avoiding excessive arm
abduction. An indwelling Foley catheter, large intravenous
lines, and central venous pressure monitoring are minimal
anesthetic requirements. The entire posterior aspect of the
trunk to the buttocks is draped into the surgical area.
Operative Technique
A, The posterior skin is mobilized from the myelomeningo-
cele sac remnants. Usually, a midline incision is effective for
this purpose, but this can be modified, depending on the
state of the patient’s soft tissues and the need for any con-
comitant rotational flaps. After mobilization of the skin, the
posterior spinal elements are exposed proximal to the dys-
raphic area. The sac is identified and mobilized by freeing
it from the spinal column distal to the intended level of
kyphectomy. The sac is transected distally and then mobi-
lized proximally by identifying and tying off the nerve roots
in sequence as they exit the sac. Because of previous scar-
ring, dissection is usually more tedious than the illustrations
might suggest, and the vessels between the sac and the
spinal column or those associated with the nerve roots can
cause considerable bleeding.
B, Mobilization of the sac continues proximally until it can
be elevated off the spinal column proximal to the intended
level of kyphectomy—usually the point at which the pos-
terior elements are intact or the base of the thoracic spine.

C D
C, While the sac is held by its distal stump, the cord and
sac remnants are transected proximal to the level of kyph-
ectomy. The meninges only are tied with a purse-string
suture at the level of resection. It is essential that the spinal
cord not be sutured along with the meninges. Tying of the
spinal cord may cause central canal obstruction and acute
hydrocephalus and has been associated with sudden periop-
erative death.
D, The lumbar spine is exposed in a subperiosteal or extra-
periosteal fashion, as desired, exposing the kyphotic area of
the spine circumferentially and allowing the paraspinal
muscles, psoas muscle, retroperitoneum, and abdominal
contents to fall anteriorly with the dissection. The extra-
periosteal plane is generally more easily mobilized from the
spine; segmental vessels usually need to be ligated as the
dissection proceeds. Subperiosteal dissection provides a
CHAPTER 36  Disorders of the Spinal Cord e193
stout protective membrane between the spinal column and
retroperitoneal area, but dissection is normally more tedious
and vascular. Typically, to correct the deformity, two verte-
bral body equivalents spanning three segments need to be
resected. The surgeon should carefully plan which vertebrae
are to be resected to provide optimal realignment of the
residual spinal column, ideally by making tracings of preop-
erative radiographs and studying the effect of vertebral
body resection at different levels. Proximal thoracic lordosis
or a milder kyphotic deformity of the spine below the major
kyphotic deformity may shift the optimal area of resection
(usually proximally). However, the surgeon should avoid
centering the area of resection near the thoracolumbar or
lumbosacral area; approximation and fixation of the residual
spinal column are more difficult when resection has been
carried out in these areas.
Continued on following page
e194 SECTION VI  Neuromuscular Disorders
Plate 36-3  Lumbar Kyphectomy in Myelomeningocele Patients With Fixation to the Pelvis Using the
Dunn-McCarthy Technique, cont’d
E F
E, Fixation and fusion of the spinal column are performed
using pedicle screws where the pedicles remain intact. I
prefer to extend the fusion proximally into the upper
thoracic spine to optimize spinal fixation and prevent the
development of a midthoracic kyphotic deformity, which
can result from shorter fusions. In the dysraphic area,
wires can be looped around the transverse process or
pedicle remnants or passed through drill holes in the ped-
icles if they are stout enough. Bone screws inserted directly
into the vertebral bodies or figure-eight loops of wire
passed around the bases of pedicles above and below the
area of vertebral body resection are alternative methods
of fixation in the dysraphic area. Optimal fixation to the
pelvis is provided, in my experience, by the Dunn-
McCarthy modification of the Luque instrumentation
technique. Prefabricated right and left S-shaped stainless
steel rods are contoured to the residual deformity (ideally
lordotic, but in actuality, usually straight or slightly
kyphotic). The lower S portion of each rod is passed
around the front of the sacral ala and secured to the spine
below the kyphectomy area. (In younger patients I use the
Fackler technique, placing custom-bent rods through the
sacral foramen.) Both rods are then pushed anteriorly
toward the proximal spinal segment, thereby reducing the
kyphotic deformity, and the wires of the proximal spinal
segment are gradually tightened to the rod.
F, After completion of fixation, bone graft is placed around
the rods from the sacrum to the upper limit of the fusion.
The rods should be cross-linked to provide maximum
construct stability. The wound is then closed over drains.
Postoperative Management
The patient should initially be nursed in bed, prone or
supine. I prefer to have the patient sitting as soon as fea-
sible, depending on the adequacy of spinal fixation. If
extremely secure fixation has been accomplished, external
immobilization is not necessary. However, for 6 weeks, the
patient should not be allowed to pull himself or herself
into a sitting position or to self-transfer. Nursing staff and
caretakers should be taught to transfer the patient to and
from the bed, chair, and toilet in an effective sitting
position—that is, with the legs and torso moved simulta-
neously without torque on the lumbosacral spine or hips.
If fixation is not secure or if compliance is not ensured,
the patient can be immobilized in a custom-molded tho-
racolumbosacral orthosis, with thigh extensions fixed or
hinged to allow the sitting position. This provides external
support in the sitting position and minimizes movement
of the legs, pelvis, and spine during transfers. If fixation is
completely inadequate, the patient can be nursed prone
or supine in bed until satisfactory healing has occurred;
this course should be avoided if at all possible.
 C H A P T E R 3 7 
Poliomyelitis
Chapter Outline
Pathology
Course and Prognosis
Treatment Overview
Management of the Hip
Management of the Knee
Management of Specific Deformities of the Foot
and Ankle
Management of the Trunk
Management of the Shoulder
Management of the Elbow
Management of the Forearm
Poliomyelitis is an acute infectious disease caused by a group
of neurotropic viruses that initially invade the gastrointesti-
nal and respiratory tracts and subsequently spread to the
central nervous system (CNS) through the hematogenous
route. The poliomyelitis virus has a special affinity for the
anterior horn cells of the spinal cord and for certain motor
nuclei of the brainstem. These cells undergo necrosis, which
results in loss of innervation of the motor units that they
supply.
The first description of paralytic poliomyelitis was given
by Underwood in 1789.166
Infection may be caused by type I, II, or III poliomyelitis
virus. No cross-immunity exists among the various types of
poliovirus; thus infection may recur in the same individ-
ual.111,135 Poliovirus is a member of the enterovirus group,
which includes coxsackievirus and the echoviruses. Paralytic
disease that is clinically and pathologically indistinguishable
from poliomyelitis can be produced by various other entero-
viruses. These viruses may be isolated by tissue culture.
In the past, poliomyelitis was an epidemic disease in the
summer and fall months, with sporadic cases occurring
throughout winter and spring. The development and wide-
spread use of a prophylactic vaccine greatly reduced the
incidence of poliomyelitis; however, sporadic cases still do
occur, and continued rehabilitation of patients who have
had the disease remains a concern of the orthopaedic
surgeon.111,136,137,141,150
More recently, attention has focused on cases of polio-
myelitis caused by oral vaccine, so-called vaccine-associated
paralytic poliomyelitis. The risk of contracting poliomyelitis
from the vaccine remains extremely low, with a rate of 1
case per 2.5 million doses. Between 1980 and 1989, 80 such
cases were reported in the United States. During the same
period no cases resulted from wild virus, and 5 cases of
imported disease were reported. People at risk for contract-
ing vaccine-associated disease were infants receiving their
first dose, persons in contact with vaccine recipients who
were not vaccinated, and immunologically compromised
people. Because of this rare but devastating occurrence, the
John A. Herring
Centers for Disease Control and Prevention (CDC) recom-
mended that children be inoculated first with inactivated
vaccine, followed by oral attenuated vaccine.161 In 2006 the
CDC reported that vaccine-associated paralytic polio cases
had been eliminated in the United States after this change
in vaccine administration; the last such case was reported
in 1999.1 It is important to differentiate vaccine-related
polio from Guillain-Barré syndrome. The latter has been
reported to occur more frequently during oral polio vaccina-
tion campaigns.2
The effort to eliminate poliomyelitis worldwide contin-
ues. Great credit goes to several organizations for their
work, including Rotary International, the Bill and Melinda
Gates Foundation, and the World Health Organization.36
Much progress has been made, as noted in 2011 that
between 2009 and 2010 the rate of polio in Nigeria and
India had been reduced by 95%. The authors stated that
this represented “real opportunities in India and Nigeria,
setting the stage for polio to follow smallpox into the history
books.”6 In a 2012 report, however, these recent gains were
reported to be offset by continued endemicity in Pakistan
and Afghanistan where large outbreaks had occurred.90
Major issues are the identification of asymptomatic viral
carriers and the difficulty of environmental screening, which
even involves the screening of sewage.88,104 Polio can be
contracted by unvaccinated adults traveling to countries
where polio is still endemic.28
Another manifestation of poliomyelitis that has received
considerable attention is the occurrence of postpolio syn-
drome. This syndrome is characterized by increasing muscle
weakness, fatigue, pain, and loss of function in individuals
who contracted poliomyelitis 20 or more years earlier. Perry
and associates131 showed that this condition represents a
chronic overuse syndrome, with overstressed muscles
“wearing out.” Another theory of the origin of this phenom-
enon is the failure of axonal sprouts that formed during the
healing process after poliomyelitis.40,47 The prevalence is
higher in women than in men, and the syndrome is more
likely in those who contracted polio at an early age.132 A
discussion of the management of this problem, however, is
beyond the scope of a text on pediatric orthopaedics.
This chapter deals with general principles of the manage-
ment of paralytic deformities of the musculoskeletal system
that result from poliomyelitis. These principles are appli-
cable not only to the treatment of poliomyelitis but also to
the management of similar problems of flaccid paralysis
secondary to other causes. For a detailed account of the
disease and its medical aspects of management, the reader
is referred to the voluminous literature on the subject.
Pathology
Poliovirus has a definite predilection for the anterior horn
cells of the spinal cord and for certain motor nuclei in the
e195
e196 SECTION VI  Neuromuscular Disorders
brainstem. The lumbar and cervical enlargements of the
spinal cord are the most commonly affected. The damaging
action on the motoneurons may be direct, occurring through
the toxic effects of the virus, or indirect, occurring through
ischemia, edema, and hemorrhage in the neurons’ support-
ive glial tissue.14
The motoneurons swell and the Nissl substance in their
cytoplasm undergoes chromatolysis. An inflammatory reac-
tion ensues, with infiltration of polymorphonuclear and
mononuclear cells into the gray matter, particularly the
perivascular areas. The necrotic bodies are subsequently
replaced by scar tissue.
Involvement of the anterior horn cells varies from
minimal injury, with temporary inhibition of metabolic
activity and rapid recovery, to complete and irrevocable
destruction.
Paralysis is of the flaccid type, with the individual motor
units following the “all-or-none” law, because the virus
affects the anterior horn cells rather than the muscle. The
percentage of motor units destroyed varies, and the resul-
tant muscle weakness is proportionate to the number of
motor units that are lost. For example, a muscle with “poor”
muscle strength will have 20% of its motor units function-
ing, whereas a muscle with “good” motor strength will have
80% of its motor units functioning. These remaining func-
tional motor units are called guiding neuromuscular units
and are of particular importance in retaining patterns of
motion of the individual muscles or muscle groups during
the recovery stage. The recovery of muscle power primarily
depends on restitution of the anterior horn cells of the
spinal cord that have been damaged but not destroyed.
Course and Prognosis
The course of the disease is subdivided into acute, conva-
lescent, and chronic phases. The acute phase, which lasts
from 5 to 10 days, is the period of acute illness when
paralysis may occur. It is further subdivided into the pre-
paralytic phase and the paralytic phase. The acute phase is
ordinarily thought to end when the patient has had no fever
for 48 hours.
The convalescent phase encompasses the 16-month
period after the acute phase. During this time a varying
degree of spontaneous recovery in muscle power takes
place. This phase is also further subdivided into the sensitive
phase (lasting from 2 weeks to several months), character-
ized by hypersensitivity of muscles, which are tender and
“in spasm,” and the insensitive phase, in which the muscles
are no longer sensitive but are still in the period of
recovery.
The chronic or residual phase is the final stage of the
disease after recovery of muscle power has taken place. It
encompasses the rest of the patient’s life after termination
of the convalescent period.106
Immediately after onset it is difficult to make an accu-
rate prognosis regarding the rate and extent of spontaneous
recovery. It is best to assume that the involved muscles will
recover until the subsequent course of the disease demon-
strates otherwise. Muscle recovery is most marked in the
first 3 to 6 months, and the potential for recovery ceases
approximately 16 to 18 months after onset.
The two primary factors to consider in the prognosis are
the severity of the initial paralysis and the diffuseness of its
regional distribution. If total paralysis of a muscle persists
beyond the second month, severe motor cell destruction is
indicated, and the likelihood of any significant return of
function is poor. If the initial paralysis is partial, the prog-
nosis is better.
The condition of the neighboring muscles is another con-
sideration. A weakened muscle surrounded by completely
paralyzed muscles has less chance of recovery than does a
muscle of corresponding power that is surrounded by strong
muscles. Muscle spasm, contracture of antagonist muscle
groups, deformity, and inadequate early treatment are
other factors that may interfere with recovery of muscle
function.
Treatment Overview
Management of poliomyelitis varies with the stage of the
disease and the severity and extent of paralysis.58,59 Treat-
ment in the acute febrile stage is primarily the domain of
the pediatrician or internist, and patients are admitted to
infectious disease hospitals or to isolation units of general
hospitals. Care of the musculoskeletal system, however, is
important from the first day of the disease. It is imperative
that the orthopaedic surgeon be consulted to examine a
patient with a suspected case of poliomyelitis before lumbar
puncture is performed. The surgeon should be responsible
for all orders concerning management of the musculoskel-
etal system. The pediatrician is responsible for general care
of the patient, especially any problems of respiratory system
and bulbar involvement, should they develop. Once afebrile
for 18 hours (i.e., after termination of the acute stage), the
patient should be transferred to the service of the ortho-
paedic surgeon, who assumes the dominant role. Such
delineation in addition to continuity of supervision is man-
datory because it stimulates early attention to deforming
tendencies and prevents their development.
Acute Phase
During the initial, febrile phase of the disease, the primary
concerns of the orthopaedic surgeon are the comfort of the
patient and the prevention of deformity. It is best to place
the patient on complete bed rest and restrict physical activi-
ties to a minimum. The patient is irritable and apprehensive.
It is important to reassure the patient and allay fears.
General medical measures consist of the administration
of a varied diet with relatively high fluid intake, attention
to urinary retention and bladder paralysis, prevention of
constipation and fecal impaction, and provision of analgesia
for pain. Opiates and other medications that have a depress-
ing action on the CNS should not be given in the presence
of impending paralysis of the muscles of respiration.
A detailed determination of the severity and extent of
muscle paralysis is not warranted during this febrile period.
By gentle handling of the limbs and trunk, however, the
clinician can make an approximate assessment of the degree
and distribution of the motor weakness without much dis-
tress to the patient. This initial muscle examination has
diagnostic and therapeutic implications. It also provides the

necessary information to prevent the development of poten-
tial deformities consequent to paralysis.
Ordinarily, paralysis develops 2 or 3 days after the onset
of fever and increases in severity for several days. Progres-
sive involvement ceases only after the elevated temperature
returns to normal. Characteristically, the paralysis in polio-
myelitis is asymmetric. In the presence of symmetric paral-
ysis of the limbs and trunk, a paralytic disease other than
poliomyelitis should be considered. In a large epidemic the
care of patients will be much simplified if those with paraly-
sis are separated from those without paralysis.
Management of Respiratory Involvement
Patients with bulbar and respiratory involvement require
specialized intensive care. An early appraisal of the distribu-
tion and extent of paralysis will help detect muscle weak-
ness in certain areas that should alert the clinician to the
possible development of such distressing complications. For
example, a patient who cannot lift his or her head because
of paralysis of the anterior neck muscles or one who has a
nasal intonation of the voice, difficulty swallowing, and
weakness of the facial muscles should be watched carefully
for bulbar involvement. Prompt diagnosis and treatment are
essential to keep the patient’s airways open because the
condition may be fatal. Aspiration of unswallowed secre-
tions is a definite danger. The foot of the bed is elevated
and the patient is placed in a prone or lateral position. Fre-
quent suction or postural drainage is usually required. Occa-
sionally, tracheostomy may be necessary.
Another anatomic area that should be observed for
muscle weakness is the shoulder girdle. The nerve supply
to the deltoid muscle is provided by the fifth cervical root;
it is adjacent to the fourth cervical root, which innervates
the diaphragm. Consequently, progressive paralysis of the
deltoid muscle is usually followed by paralysis of the inter-
costal muscles and the diaphragm. An increased rate of
breathing, use of accessory muscles of respiration, and rest-
lessness, anxiety, and disorientation are signs that should
alert the physician to the possible need for a mechanical
respirator. Paralysis of the diaphragm is easily detected on
fluoroscopy. Abdominal muscle weakness is determined by
asking the patient to lift the head and shoulder or the lower
limbs. Asymmetry of power is indicated by the Beevor sign,
which is a shift of the umbilicus toward the stronger
muscles.
Prevention of Deformity
Patient positioning should provide correct anatomic align-
ment of the limbs and proper posture of the trunk. The aim
is to prevent the development of deformities. The bed
should give adequate support and should not sag. A firm
foam rubber mattress is preferable. Bed boards should be
placed beneath the mattress and should be hinged to permit
sitting in the later convalescent period. A padded footboard
is used to maintain the ankles and feet in neutral position
when the patient is lying supine or prone. Pulling the end
of the mattress about 10 cm away from the footboard pro-
vides an interspace in which the heels are allowed to fall.
Periods in the supine position should be alternated with
periods in the prone position. The prone position is impor-
tant for maintenance of good muscle tone of the gluteus
maximus and erector spinae muscles.
CHAPTER 37  Poliomyelitis e197
When the patient is lying supine, the knees should be
held in slight flexion with padded rolls under them and
behind the proximal ends of the tibiae to prevent genu
recurvatum and posterior subluxation of the tibiae. A
slightly flexed position of the knees relaxes the sensitive
hamstrings. Excessive flexion of the knees, however, should
be avoided. Sandbags or rolled pads are placed on the lateral
sides of the thighs and legs to prevent external rotation
deformity of the lower limbs. Intermittent use of rolls
between the scapulae will prevent forward hunching of the
shoulders.
The limbs should not be maintained in rigidly fixed posi-
tions. Several times a day the joints are carried passively
through their range of motion; this will help relieve muscle
pain. Overstretching of the muscles, however, should be
avoided. The patient should be handled as gently as possi-
ble. Passive motion of the joints of a limb is imperative to
prevent stiffness and myostatic contractures. At times,
during severe spasm of the hip flexors, hamstrings, and
gastrocnemius, the sensitivity and pain of muscles are so
great that anatomic alignment cannot be assumed without
excessive discomfort.
Management of Muscle Spasm
“Muscle spasm,” a principal manifestation of poliomyelitis
in its early stages, is characterized by protective contraction
of the muscles to prevent a potentially painful movement.
“Muscle resistance to stretch” is more descriptive of this
reflex guarding action of the muscles, which resembles the
muscle spasm associated with painful phenomena such as
hamstring spasm in synovitis of the knee. True spasticity
and signs of upper motoneuron involvement are absent. The
exact cause of the muscle pain and sensitivity is unknown.
Most probably these manifestations are the result of inflam-
matory changes in the posterior ganglia and meninges.
Other possible causes are lesions in the reticular substance
and lesions of the internuncial neurons in which inhibitory
fibers to the anterior horn cells are affected.
The degree of muscle pain and sensitivity varies consid-
erably. Some muscle discomfort is usually present in the
preparalytic period. Nerve traction tests, such as those of
Lasègue and Kernig, increase muscle spasm and pain. Spon-
taneous severe pain is rare but occasionally seen in adult
patients. The important consideration is that the painful
strong muscles tend to shorten during the sensitive phase;
if these muscles are maintained in their shortened position,
myostatic contracture and fixed deformity will develop.
In the acute and sensitive phase of convalescence, appli-
cation of moist heat relieves the sensitivity of the muscles
and alleviates discomfort. Physiologically, heat increases
local temperature and enhances blood flow to the muscle.
It has no specific therapeutic effect on the course of the
paralysis and actual recovery of involved nerve cells. Heat
is more beneficial if it is applied intermittently for short
periods.
In the acute phase, to minimize handling of the patient,
a lay-on wool pack is used. It consists of three layers, one
of wool blanket material (wrung out of boiling water by
passing it twice through a wringer) and one of waterproof
material, which in turn is covered by an outer layer of wool
blanket. The number of these packs and the duration of
their use are individualized according to the intensity of
e198 SECTION VI  Neuromuscular Disorders
pain and spasm. In general, two moist heat packs are applied
during a 20-minute period. Continuous and overzealous use
of heat should be avoided because it can be tiring and
harmful to the patient. Moist heat is best used before physi-
cal therapy in the acute phase to assist in developing greater
range of joint motion and to facilitate the performance of
active exercises. Warm tub baths are substituted for the
lay-on packs within a few days after the patient’s tempera-
ture has returned to normal and when the patient’s general
condition permits. The buoyant effect of water makes it
easier for the weakened muscles to move. Active exercises
in water in the acute phase should be closely supervised so
that the patient does not substitute stronger muscles for the
weaker ones. Again, the patient’s comfort is the primary
consideration. The temperature of the tub baths should be
approximately 100° F, and the total period of immersion in
the tub should not exceed 20 minutes. In cases of extensive
paralysis, overhead cranes may be used to lower the patient
directly into the tub from the stretcher.
Convalescent Phase
The objectives of treatment during the convalescent stage
are (1) attainment of maximum recovery in individual
muscles, (2) restoration and maintenance of normal range
of joint motion, (3) prevention of deformities and correc-
tion of deformities if they occur, and (4) achievement of
the best possible physiologic status of the neuromusculo­
skeletal system.59
Management of Muscle Spasm
and Prevention of Deformity
In the early part of the convalescent stage, because muscle
sensitivity and spasm are still present, the use of hot packs
is continued for the comfort of the patient. Passive exercises
are performed four to six times a day to prevent the devel-
opment of contractural deformity. When joint motion is
limited, gentle passive stretching exercises are added to the
therapy program. This exercise regimen should not cause
the patient discomfort; however, the threshold of pain may
be very low in an apprehensive, sensitive person. A firm but
sympathetic attitude by the therapist is important, and the
patient should be encouraged more each time to gain a
greater degree of motion. Tendencies toward deformity
should be observed, such as external rotation and abduction
of the hips, plantar flexion of the feet, or adduction of the
shoulders. Passive stretching exercises should be directed
toward preventing and correcting deformity.
Muscle Examination
Several days after onset of the convalescent stage, a com-
plete muscle examination should be performed. Ordinarily,
it is done in stages to avoid fatiguing or disturbing the
patient. This initial motor assessment provides a basis for
comparison with subsequent examinations, and it also
serves as a guide to the therapy regimen that is to be insti-
tuted. The rate and extent of muscle recovery are deter-
mined by repeating these muscle tests periodically—monthly
during the first 4 months, bimonthly during the following
8 months, and then quarterly during the second year of the
disease. The prognostic value of the serial muscle tests is
evident: when a muscle exhibits little or no improvement
in power during a 3-month period, it is unlikely that it will
recover or gain strength of functional significance. In such
a case the patient should be fitted with appropriate orthotic
support and allowed greater activity. In contrast, a muscle
that shows steady improvement has a good possibility of
recovering to a functional level; hence it is unwise to apply
an above-knee orthosis to this weak limb and permit the
patient to walk.
Preserving and Restoring
Neuromuscular Function
In management of the convalescent stage of poliomyelitis,
the following aspects of neuromuscular function must be
considered.59
Patterns of Motor Activity
Limb motions are complex and are not the result of isolated
contraction of a single muscle. The functions of many
muscles are integrated and coordinated in the execution of
a movement and are controlled by the automatic reflexes
of the CNS. In dorsiflexion of the ankle, for example, the
anterior tibial muscle, the toe extensors, and the peroneus
tertius are the prime movers that execute the desired move-
ment, whereas the triceps surae and the toe flexors are the
antagonist muscles that become relaxed because of the
reciprocal innervation of the agonist and antagonist muscles.
The synergist and fixation muscles also contract while the
prime mover acts.
In the presence of muscle weakness, the tendency is to
use a strong group of muscles that can perform the action
more easily and readily, thus excluding the weaker muscles
from the pattern of motor activity. A muscle that has been
temporarily paralyzed will be left out of the pattern of
motion permanently if other muscles substitute for its
action during the period of its recovery. In the convalescent
stage, these muscular substitutions and abnormal patterns
of motor activity should be avoided.
Some neuromuscular units often remain intact in the
paralyzed muscles; they act as “guiding contractile units,”
and in the performance of active exercises, these function-
ing neuromuscular units should be used to guide the body
part in execution of normal motion.
For example, in reeducation of a poor anterior tibial
muscle, the ankle joint is first passively dorsiflexed through
its full arc of motion to stretch any contracture of the
triceps surae muscle. The limb is then placed in a side-lying
position to eliminate the force of gravity, and the ankle joint
is again passively dorsiflexed in some inversion through its
full range. The therapist assists the patient to localize the
action of the anterior tibial muscle and emphasizes that
substitution by the toe extensors and peroneus tertius
muscle should be avoided.
Next the patient is asked to produce an active, sustained
contraction of the anterior tibial throughout its full arc of
motion, first with and then without assistance. As the
muscle becomes stronger, the limb is placed in the supine
position to make the muscle work against gravity, and gradu-
ally increasing manual resistance is applied. The active exer-
cises are graduated on the basis of performance. Muscles
that are overworked lose strength.
In poliomyelitis, reciprocal innervation between agonist
and antagonist muscles is often disturbed, with resultant

loss of synergistic muscular action and the normal pattern
of motor activity.
Fatigue
A paralyzed muscle is easily fatigued. This is readily shown
by its rapid loss of power and inability to function after
several effective contractions. Forcing a weak muscle beyond
its point of maximal action does not increase its strength;
on the contrary, it inhibits recovery of the paralyzed muscle.
It is important to observe the level of functional activity
of a weak muscle so that it is not forced to exceed its
capability.
Contractural Deformity and Progressive Loss
of Function
Flaccid paralysis is the chief cause of functional loss. Mus-
cular action is also inhibited by pain, sensitivity, and spasm.
When a muscle is maintained in a shortened position for a
prolonged period, myostatic contracture develops. Muscle
imbalance and increased stress secondary to abnormal pat-
terns of activity are other factors producing deformity.
Growth is an important consideration in the management
of poliomyelitis in children. The contour of bony structures
is influenced by paralysis and dynamic muscle imbalance.
For example, when the triceps surae muscle is weak and the
ankle dorsiflexors are of normal motor strength, a progres-
sive calcaneus deformity of the hindfoot results. If the child
is permitted to walk without support and protection, the
loss of power of the triceps surae muscle will be greater
because the muscle is working against gravity. Figure 37-1
shows the vicious cycle of factors causing progressive loss
of function in poliomyelitis.
In the asensitive stage, proper alignment of the limbs and
full range of joint motion must be restored and maintained.
Passive stretching exercises are performed vigorously. In the
presence of muscle imbalance and a tendency to develop
contracture, bivalved casts should be used at night to main-
tain the part in correct position. When a deformity is fixed,
wedging casts or traction may be applied.
Active exercises are performed to integrate recovering
motor units into the normal pattern of motion; their primary
objective is not to produce hypertrophy of muscles that are
already functioning normally. Hydrotherapy and active
exercises in a pool are prescribed for patients with extensive
paralysis. Motion of the hips, shoulders, and trunk is greatly
Flaccid Loss of Muscle imbalance
+ Contracture Deformity
paralysis function
Functional stress
Rapidly in child
because of growth
Progressive Continued
deformity activity
Slowly in adult
FIGURE 37-1  Principal factors involved in the progressive loss of
function in the residual stage of poliomyelitis. (Redrawn from
Green WT, Grice DS: The management of chronic poliomyelitis,
Instr Course Lect 9:86, 1952.)
CHAPTER 37  Poliomyelitis e199
facilitated in the pool because the buoyant effect of the
water facilitates coordinated motion of the parts. Strict
supervision by the therapist is mandatory, however, to
prevent substitution of strong muscles for those that are
weak. Excessive exercises and overwork should be avoided.
Patients with extensive paralysis are initially instructed to
ambulate in the pool; when adequate control of the trunk
and lower limbs is achieved, this is no longer necessary.
Standing balance should be developed first, followed by
walking with the help of crutches. The gait pattern should
be a reciprocal four-point gait, with the amount of body
weight borne depending on the degree of paralysis. The
physical therapist assists in locomotion so that abnormal
mechanisms do not develop. During the convalescent
period, use of an orthosis should be kept to a minimum
because it increases the workload on the paralytic levels and
tends to produce abnormal gait patterns. In severe paralysis
of the lower limbs and trunk, however, locomotion may be
impossible without the support of an adequate orthosis.
General activities of the patient are gradually increased.
During the first few minutes of locomotion the gait may be
effective, but with fatigue it may become poor. Random,
purposeless activity should be discouraged.
Chronic Phase
The goals of treatment in the residual stage are to enable
the patient to attain maximal function and to obtain the
greatest amount of productive activity despite residual
weakness.58 With continued growth and use of the limb,
progressive deformities that will ultimately cause loss of
function may develop. Hence an equally important task
during the chronic stage is to prevent deformities and to
correct them, should they develop. The residual stage is a
dynamic, not a static, period. Much can be done to improve
the functional capacity of the patient.
Physical Therapy
In the residual stage the physical therapy regimen is directed
toward (1) increasing the motor strength of muscles by
active hypertrophy exercises, (2) preventing or correcting
deformity by passive stretching exercises, and (3) achieving
maximum functional activity.101
Active Hypertrophy Exercises
Active hypertrophy exercises are performed primarily for
the benefit of marginal muscles, to elevate or maintain their
functional level. (There is little to be gained by exercising
zero or “trace” muscles that remain unchanged after 18
months, and the same is true of muscles that have a “good”
or “normal” rating.) For example, when the anterior tibial
and toe extensor muscles are “fair” in motor strength and
the triceps surae muscles are “normal,” active exercises of
the ankle dorsiflexors should be performed to maintain
them at the antigravity functional level. Progressive resis-
tance exercises entail the use of activity graded in propor-
tion to the strength of the involved muscles. These exercises
are recommended in the residual stage of poliomyelitis to
increase the strength and improve the endurance of such
individual muscles or groups of muscles as a “fair” quadri-
ceps or triceps surae or a “fair plus” hip abductor muscle to
maximum capacity. Whether progressive resistive exercises
e200 SECTION VI  Neuromuscular Disorders
are of any permanent value when the motor strength
of a muscle is less than “fair minus” is doubtful; a “poor”
quadriceps muscle cannot, through hypertrophy exercises,
be improved to “fair” strength so that it can lift the
leg against gravity. Correction of flexion deformity of the
knee, however, may provide added strength by eliminating
the need for the quadriceps muscle to work against
deformity.
Passive Stretching Exercises
Prevention of contractural deformity is much simpler than
correction of such deformity. When a limb is continuously
maintained in one position, contracture and fixed deformity
develop as a result of the effects of gravity and dynamic
imbalance of muscles. An ankle joint held in plantar flexion
because of weak dorsiflexors and a strong triceps surae is
susceptible to the development of progressive equinus
deformity if the ankle is not passively stretched into dorsi-
flexion every day. The calf muscles should also be passively
stretched to prevent the development of equinus deformity;
this is implemented by the use of a bivalved night cast to
hold the foot out of equinus and in neutral position. Passive
stretching exercises should be performed gently several
times a day. In the presence of muscle imbalance, however,
these exercises are not adequate to prevent deformity, and
other measures should be undertaken, such as the use of a
removable bivalved long-leg night cast to hold the foot in
neutral position and wearing of a below-knee dorsiflexion-
assist spring orthosis during the day.
Functional Training
The purpose of a functional training program is to enable
the patient to overcome the handicaps imposed by the
physical disability. The residual deficit in function varies,
depending on the extent and severity of paralysis. The
needs of a growing child progressively change. In the resid-
ual stage the patient is taught how to use all available
muscles to accomplish a task successfully. This is in contrast
to the convalescent stage, when the patient is not allowed
to substitute stronger muscles for weaker ones. For example,
when the anterior tibial is “poor” in motor strength in the
convalescent stage, the child is not permitted to use the toe
extensors to dorsiflex the foot when active exercises are
performed with the anterior tibial. In the chronic stage,
however, if anterior tibial function is still “poor,” the child
is taught how to dorsiflex the foot by using the toe extensors
and peroneal muscles.
At times the activity of stronger muscles is suppressed
to prevent the development of deformity. For example, an
individual with “normal” sartorius, biceps femoris, and
peroneal muscles but “poor” iliopsoas, medial hamstring,
and anterior tibial muscles walks with a marked external
rotation deformity of the foot and leg. It is important to
supervise such a patient’s gait and teach the patient to sup-
press the eversion power of the peroneals and the externally
rotating power of the biceps femoris and the sartorius to
prevent the development of an external rotation deformity
of the lower limb.
To teach a child merely to walk with crutches and ortho-
ses is not satisfactory. The child should be instructed in
activities of daily living, such as how to get in and out of
chairs, open doors, and enter an automobile.
Orthoses and Other Apparatus
Use of an apparatus may be necessary during the asensitive
period of the convalescent stage and the residual stage of
poliomyelitis. The primary objectives of the orthosis are to
(1) support the patient and enable the patient to walk and
increase functional activity, (2) protect a weak muscle from
overstretching, (3) augment the action of weak muscles or
substitute for muscles completely lost, (4) prevent defor-
mity and malposition, and (5) correct deformity by stretch-
ing certain groups of muscles that have been contracted.
The support, substitution, and corrective mechanisms may
be combined in a single apparatus. In general, dynamic
splinting is more desirable than static splinting.
General Principles
Certain general principles should be followed regarding the
use of an apparatus in patients with poliomyelitis. When-
ever satisfactory recovery of function is expected, an ortho-
sis should be used with caution on the lower limbs because
it is likely to produce an abnormal gait pattern. Thus during
the early convalescent period, use of an orthosis should be
deferred until after maximum recovery of muscle function
has taken place. Locomotion without an orthosis but with
the support of crutches should be attempted to stimulate
active muscular function through the exercise of walking.
Use of an orthosis should not, however, be postponed if
deformities appear likely to develop from the stress of
weight bearing. The needs of each patient are different, and
the use of a lower limb orthosis depends on the severity of
the muscle weakness and the degree of dynamic imbalance
of the muscles. If the patient has extensive paralysis of the
lower limbs, use of an orthosis may be the only means of
achieving stance and locomotion.
In general, use of an orthosis should be as minimal as the
condition permits. For example, if a patient with paralysis
of both lower limbs were to be fitted with two above-knee
orthoses, he or she would also need to use two crutches to
walk. If the patient were to use two crutches, he or she
could do as well with an above-knee orthosis on one leg only
because only minimal motor strength is required of the
other leg to walk without an orthosis. During the stance
phase on the leg without the orthotic support, the tripod
base is completed by the two crutches; the knee is stabilized
by being locked in hyperextension. “Fair” motor strength in
the ankle dorsiflexors and hip flexor muscles allows clear-
ance of the lower limb in the swing phase.
It is imperative to explain to the patient the reasons
for using an orthosis. The patient should understand
clearly that wearing the orthosis will help in the early
convalescent stage of the disease and that the orthosis
may be discarded later, after training or reconstructive
surgery. For example, the use of a dorsiflexion-assist below-
knee orthosis may be unnecessary after a successful ante-
rior transfer of the peroneal tendons, or an opponens splint
may be discarded after a satisfactory opponens tendon
transfer. In addition, when the child becomes an adult,
he or she may no longer need an above-knee orthosis to
prevent genu recurvatum.
The continued use of an orthosis should be reevaluated
regularly. Before advising that use of an orthosis be discon-
tinued, the clinician should be certain that no possibility for
the development of progressive deformities exists and that

the level and quality of functional performance will not
deteriorate.
Specific Applications
Lower Extremity.  When the toe extensor and anterior tibial
muscles are paralyzed and the triceps surae muscle is
normal, a dorsiflexion-assist spring orthosis (which acts as
an active substitute for the weak ankle dorsiflexors) is pref-
erable to a below-knee caliper orthosis with a posterior stop
that prevents plantar flexion of the ankle beyond neutral
position. In paralysis of the gastrocnemius and soleus
muscles, a plantar flexion–assist spring below-knee orthosis
with a dorsiflexion stop at neutral position is prescribed
(Fig. 37-2). In the presence of a flail ankle and foot, a
double-action ankle joint (both plantar flexion–assist and
dorsiflexion-assist) is provided, and a varus or valgus T-strap
is added to the shoe as necessary. In addition, inside or
outside wedges are prescribed for the shoe depending on
the deformity of the foot.
When the muscles controlling the knee are paralyzed, an
above-knee orthosis with a drop-lock knee joint is pre-
scribed. This type of orthosis provides knee stability for
walking and can be unlocked during sitting. If genu recur-
vatum results from paralysis of the triceps surae in the
presence of some strength of the quadriceps femoris, it can
be controlled by an above-knee orthosis with a free knee
joint constructed so that complete extension of the orthosis
at the knee is prevented. Proper positioning of the thigh and
calf bands also checks genu recurvatum. Genu varum or
knock-knee pads are added as necessary. When flexion
FIGURE 37-2  Plantar flexion–assist below-knee orthosis with a
dorsiflexion stop at neutral position.
CHAPTER 37  Poliomyelitis e201
deformity of the knee is present as a result of dynamic
imbalance between the hamstrings and quadriceps femoris
muscles, a well-padded anterior knee component is pre-
scribed. An Engen extension knee orthosis is worn at night
to correct flexion deformity of the knee.
Hip.  If the muscles controlling the hip are weak, stability
of the hip joint can be provided by an ischial weight-bearing
thigh socket; crutches are used if necessary. Rotational align-
ment of the lower limbs is obtained by the addition of
rotation straps or twisters. Ordinarily the patient walks
better without a pelvic band and drop-lock hips; however,
in a young child with gluteus maximus paralysis, these
devices may be used temporarily for balance. Frequently
the spine also requires support. When upright posture is
resumed, the abdominal muscles overstretch, and severe
lumbar lordosis and paralytic scoliosis develop. Any asym-
metric involvement of the abdominal and trunk muscula-
ture should always be carefully noted. An abdominal corset
support with metal stays often serves to control abdominal
muscle paralysis. If the trunk extensors are weak, a spinal
orthosis with an abdominal corset is provided. If the spine
is unstable and collapsing, it may be supported by a molded
plastic body jacket constructed from a plaster-of-Paris cast
made while the patient is standing, with traction provided
by a head sling. In paralytic scoliosis, usually a Milwaukee
brace is worn, provided that lower limb paralysis is not
extensive and wearing such an appliance does not prevent
ambulation. In these instances the Milwaukee brace is used
intermittently during periods of recumbency or sitting,
or both.
Upper Extremity.  In the upper limb the paralyzed shoulder
muscles, particularly the deltoid, are best protected from
the effects of gravity with a sling, which allows functional
use of the forearm and hand. During the initial period of 6
to 8 weeks an abduction shoulder splint may be worn at
night and during part of the day to prevent overstretching
of the deltoid muscle, particularly when the patient has
associated paralytic subluxation or dislocation of the shoul-
der joint. A cock-up wrist splint is used when the wrist
extensors are paralyzed, and an opponens splint is used
when the opponens of the thumb is weak. When the intrin-
sic muscles of the hand are paralyzed, hyperextension of
the metacarpophalangeal joints is prevented by a knuckle-
bender dynamic splint.
Surgical Treatment
A multitude of operative procedures can be performed both
for the correction of paralytic deformities and for the total
physical rehabilitation of a child with poliomyelitis. These
procedures may include fasciotomy, capsulotomy, tendon
transfers, osteotomy, and arthrodesis. Leg length inequality
commonly occurs in poliomyelitis as a result of shortening
in the paralyzed leg.
Principles of Tendon Transfer
Tendon transfer entails shifting the insertion of a muscle
from its normal attachment to another site to replace the
active muscular action that was lost by paralysis and to
restore dynamic muscle balance. The procedure was origi-
nally described by Nicoladoni in 1882. Many surgeons have
e202 SECTION VI  Neuromuscular Disorders
devised various types of tendon transfers and established
their usefulness. Lange, Velpeau, Vulpius, Codivilla, Mayer,
Biesalski, Goldthwait, Ober, Steindler, Bunnell, and Green
are some who may be mentioned.* The term tendon trans-
plantation should not be used interchangeably with tendon
transfer because the two are not synonymous. Tendon trans-
plantation refers to the excision of a tendon and its use as
a free graft. In muscle transplantation both the origin and
the insertion of a muscle are detached, and the entire
muscle with its intact neurovascular supply is transplanted
to a completely new site.
The basic principles of tendon transfers have been out-
lined by Green57 and are listed here.
1. The muscle to be transferred must have adequate motor
strength to carry out the new function. As a rule, the
motor rating of the muscle should be good or normal to
warrant transfer. The function that the transferred
muscle is intended to perform is another consideration.
In the lower limb, for example, in the presence of foot-
drop, anterior transfer of the peroneus longus is adequate
to produce effective ankle dorsiflexion, whereas in cal-
caneus limp, posterior transfer of the peroneus longus
alone to the os calcis is not sufficient to substitute for
action of the gastrocnemius-soleus, and the additional
action of two or three motors such as the flexor digito-
rum communis and the anterior tibial muscles is required.
Ordinarily, one grade of motor power is lost after a
muscle is transferred.
2. The range of motion of muscles on contraction is an
important consideration. This range must be similar to
that of the muscles for which they are being substituted;
furthermore, whenever muscles are transferred in com-
bination, their range of contraction should not differ
significantly. The transfer of antagonistic muscles is not
ordinarily as effective as the transfer of muscles having
similar function or corollary activity. However, with
meticulous postoperative care, antagonistic muscles may
be transferred effectively with good results. Posterior
transfer of the anterior tibial to the os calcis and transfer
of the hamstring muscles to the patella are common
examples of such antagonistic transfers.
3. In choosing the muscles for transfer, the surgeon must
weigh the loss of original function that will result from
the tendon transfer against the gains to be obtained. For
example, in the presence of hip flexor weakness, the
hamstring muscles should not be transferred to the
patella for quadriceps paralysis because loss of active
knee flexion added to the lack of hip flexion will be a
greater disability. Whenever possible, muscle balance
must be restored. Ideally, a deforming muscle force must
be shifted so that it substitutes for an essential weakness.
In the foot and ankle, for example, the muscles of inver-
sion and eversion and those of plantar flexion and dorsi-
flexion should be balanced. A common pitfall is transfer
of the peroneus longus muscle posteriorly to the os
calcis in the presence of a strong anterior tibial muscle.
Normally, the anterior tibial muscle dorsiflexes the first
metatarsal and the peroneus longus opposes this action.
*References 1, 11, 20, 37, 55, 97, 113-115, 117, 126, 128, 151-159,
167.
With posterior transfer of the peroneus longus, the unop-
posed anterior tibial gradually causes the first metatarsal
to ride up and produces a dorsal bunion. Thus the pero-
neus longus should not be transferred to the os calcis
unless the anterior tibial is shifted from its insertion on
the first metatarsal to the midline of the foot.
4. The joints on which the transferred muscle is to act
should have functional range of motion. All contractural
deformity should be corrected by wedging casts or soft
tissue release before tendon transfer. An anterior transfer
for footdrop, for example, should not be performed in
the presence of equinus deformity of the ankle.
5. A smooth gliding channel with adequate space must be
provided for excursion of the tendon in its new location.
The paratenon and synovial sheath are preserved over
the tendon surface during dissection. It is preferable to
pass the tendon beneath the deep fascia through tissues
that permit free gliding rather than subcutaneously. A
wide portion of the intermuscular septum is excised
whenever muscles are passed from one muscle compart-
ment to another. Sufficient space should be provided for
the tendon so that adhesions will not form. An Ober
tendon passer of appropriate size should be used to redi-
rect the tendon to its new insertion; the tendon passer
spreads the tissues and prevents binding.
6. The neurovascular supply of the transferred muscle must
not be damaged while transferring the tendon. The
surgeon must be careful to avoid denervating the muscle
while freeing it for redirection. When the tendon is
pulled up from the distal wound into the proximal inci-
sion, traction should not be applied to the origin of the
muscle. Stretching of the motor nerve can be prevented
by using a double-hand technique: the proximal segment
of the tendon is held steady with a moist sponge while
traction is applied on its distal segment with another
sponge. Acute angulation or torsion of the neurovascular
bundle is another cause of injury. Gentle handling is
imperative to preserve innervation and function of the
transferred muscle.
7. In rerouting of the tendon, a straight line of contraction
must be provided between the origin of the muscle and
its new insertion. Angular courses and passages over
pulley systems should be avoided. To allow adequate
freeing of the muscle toward its origin, the incision over
the belly of the muscle must be long and proximally
located.
8. The tendon should be reattached to its new site under
sufficient tension so that the transferred muscle will have
a maximal range of contraction. The transferred muscle
should be tested during the operation to ensure that it
will hold the part in optimal position. In the lower limb,
where weight-bearing forces are involved, the tendon is
ordinarily attached to bone, whereas in the upper limb
it is sutured to the tendon. An important technical detail
is scarification of the distal segment of the tendon that
is to be anchored to a bone or tendon; this is achieved
by excising the sheath and paratenon and “roughening”
the tendon by scraping and crosshatching it with a knife.
To diminish any tension on the tendon while it is healing,
the position of immobilization in a cast should allow the
transferred tendon to be in a relaxed attitude. For
example, when the flexor carpi ulnaris is transferred to

the extensor carpi radialis longus, the tension on the
tendon should be sufficient to hold the wrist in 30
degrees of dorsiflexion. However, when the cast is
applied, the wrist is immobilized in the overcorrected
position of 45 to 50 degrees of dorsiflexion.57
Postoperative Care and Training
Postoperative care and training are fundamental to achieving
a good result. The following principles, given by Green,
should be followed meticulously.
The age of the patient at the time of tendon transfer is
an important preoperative consideration. The child should
be old enough, preferably older than 4 years, to cooperate
in training of the transfer. A delay in tendon transfer in the
presence of muscle imbalance leads to progressive defor-
mity. Usually, conservative measures should be undertaken
to control deforming factors, but early surgery may be indi-
cated when a delay in tendon transfer would result in
increasing structural deformity. A common example is the
rapid development of progressive calcaneus deformity of
the foot with paralysis of the gastrocnemius-soleus muscles
and strong ankle dorsiflexors. An early posterior transfer
prevents the development of a deformed foot.
Support of the part in an overcorrected position should
be continued until the muscle has assumed full function and
there is no tendency for the deformity to recur. A bivalved
cast or an orthosis holds the transferred tendon in a relaxed
position.
It is best to teach the patient preoperatively to localize
active contraction in the muscle to be transferred. Active
exercises are continued postoperatively as soon as the reac-
tion to surgery and pain have subsided. The surgeon should
assist the physical therapist during the initial exercises.
When tendon transfer is combined with arthrodesis, muscle
reeducation is delayed until adequate bony union has taken
place.
The patient is instructed to contract the transferred
muscle voluntarily by moving the part through the arc of
motion that was the original normal action of the muscle
while the therapist manually guides the part to move in the
direction that is intended to be provided by the transfer.
For example, when the peroneus longus muscle is trans-
ferred anteriorly to the base of the second metatarsal, the
active motion called for is eversion in combination with
guided dorsiflexion, or if the anterior tibial muscle has been
transferred posteriorly to the os calcis, active inversion is
combined with guided plantar flexion of the ankle. In ante-
rior transfer of the hamstrings to the patella for quadriceps
femoris paralysis, the patient is placed in a side-lying posi-
tion and asked to extend the hip actively (using the ham-
strings) as the knee is guided into extension. If the flexor
carpi ulnaris has been transferred to the extensor carpi
radialis longus, the wrist is gently guided into extension as
the patient turns it in the ulnar direction. With one hand
the therapist should palpate the belly and tendon of the
transferred muscle to ensure its contraction. In the begin-
ning the exercises are performed in the bivalved cast.
Motion of the concerned joint is executed slowly, steadily,
and smoothly through as full a range as possible. Soon the
limb is taken out of the cast and is properly positioned, and
measures are taken to prevent stretching of the tendon out
of its resting position.
CHAPTER 37  Poliomyelitis e203
Occasionally the patient is unable to contract the trans-
ferred muscle actively and has difficulty “finding” it. To
enable the patient to use the transfer actively and to help
in acquiring the feeling desired, the therapist may exert
gentle mild tension on the transferred tendon, have the
patient shift positions during attempts at active contraction,
or advise the patient in the use of corollary motions. If dif-
ficulty finding the transfer persists after 2 weeks, electrical
stimulation may be used to initiate contraction as the
patient attempts to use the muscle. After a few sessions
the patient begins to feel the transfer and to contract it
voluntarily.
As soon as the patient is able to contract the transferred
muscle actively, exercises in the direction of the original
action of the muscle are discontinued and only motions in
the new function provided by the transfer are performed.
When poor motor strength develops in the transferred
muscle—that is, it can carry the part through the full range
of motion with gravity eliminated—the physical therapist
instructs one of the parents to perform the exercises with
the child. The exercise regimen is supervised by the physical
therapist and the surgeon, who check it at weekly or
biweekly intervals.
Initially the limb should be retained in the bivalved cast
for support, except during the exercise periods. As soon as
the motor strength of the transfer becomes “fair,” use of a
bivalved cast during the day is gradually discontinued. Con-
trolled activities are permitted to develop function. These
activities are permitted sooner in the upper than in the
lower limb. The age and dependability of the patient are
other considerations. Resistive exercises to develop power
are begun whenever the transfer has a normal range of
action and is “fair” in strength. It is also important to exer-
cise the antagonistic muscles to prevent disuse atrophy.
The next stage of training is incorporation of the transfer
into the new functional pattern. This is particularly impor-
tant in the lower limb, in which the muscles are concerned
with gait. For example, the action of a peroneus transfer
may be good in that it can dorsiflex the ankle through a full
range and take moderate resistance, yet during locomotion,
voluntary control over the transfer may be lost and the
patient may walk with a footdrop gait. The transition to
walking requires diligent supervision. Of particular impor-
tance is the use of crutches, which protect the limb from
undue strain and at the same time allow the patient to be
taught to use the transfer and to become accustomed to it.
First the patient is asked to take a single step, and the
therapist ensures that the muscle contracts and dorsiflexes
the ankle. As soon as the transfer functions throughout all
the phases of a single step, the walking periods are gradually
increased until the normal gait pattern becomes a condi-
tioned reflex.
Orthoses should be used in the postoperative period
judiciously and for specific reasons. Orthotic support pro-
tects the part and allows early activity. This is indicated
particularly when paralysis is extensive, as in myelomenin-
gocele. In a posterior transfer to the os calcis, for example,
a plantar flexion–assist orthosis with a dorsiflexion stop at
right angles and crutches may be used to assist in developing
function in the transfers and prevent stretching. However,
standing and walking exercises are also performed without
the brace to stimulate function in the transfer. Prolonged
e204 SECTION VI  Neuromuscular Disorders

use of a bivalved night cast is important to prevent the

development of a contractural deformity that would oppose
the action of the transfer (e.g., equinus deformity of the A
ankle in the setting of anterior transfer for dorsiflexion).
From the beginning, daily stretching exercises should be B
a part of the exercise regimen. Stretching and night support C
are continued over a long period until full strength has
developed in the muscle and balanced function is observed
between agonistic and antagonistic muscles with no ten-
dency for recurrence of the original deformity. In fact, the
use of stretching and active exercises should be a simple
rule of daily living.
Arthrodesis to provide stability and correct osseous
deformity may be indicated, particularly in the foot.
However, if dynamic balance is established before the
development of structural deformity, arthrodesis may be
unnecessary. When it is necessary to combine arthrodesis
with tendon transfer, muscle reeducation must be delayed
until adequate bony union has taken place.

Management of the Hip

Soft Tissue Contracture
The common deformity of the hip secondary to soft tissue
contracture consists of flexion, abduction, and external
rotation. Several factors must be considered in its patho-
genesis. During the acute and convalescent stages of polio-
myelitis, the patient lies supine in the so-called frog-leg
attitude with the hips flexed, abducted, and externally
rotated; the knees are flexed, and the feet are in equino­
varus posture. This position is assumed because of spasm of
the hamstrings, hip flexors, tensor fasciae latae, and hip
abductor muscles and because of the force of gravity acting
on the flail lower limbs. Maintenance of the lower limbs in
malposture results in permanent shortening of the soft
tissues. Contracture of the intermuscular septa and envel-
oping fasciae occurs first. This can easily be observed at
surgery. On sectioning of the contracted fasciae that cover
normal muscle fibers and retraction of the cut edges of the
fascia 2 to 3 cm, the underlying muscle tissue is found to
be in a relaxed condition when it is elevated with tissue
forceps. Partially paralyzed muscle becomes shortened
because of contracture of the involved fibrosed muscle
fibers scattered throughout the normal muscle tissue. Adap-
tive shortening of normal muscle occurs later. Structural
bony deformity develops with growth in the presence of
soft tissue contracture and dynamic muscle imbalance.
The iliotibial band (or tract) is the thickened lateral
portion of the fascia lata; it is located along the entire lateral
aspect of the thigh and extends from the greater trochan-
teric region to below the knee. Superiorly, the iliotibial band
is attached to the iliac crest by three prongs: a middle one
through the aponeurosis over the gluteus medius, an ante-
rior one through the tensor fasciae latae, and a posterior one
through the gluteus maximus (Fig. 37-3).
Throughout its extent on the lateral aspect of the thigh,
the iliotibial tract is continuous on its deep surface with the
lateral intermuscular septum, through which it is firmly
attached to the linea aspera on the posterior aspect of the
femur. At the knee joint level, fascial expansions from the
FIGURE 37-3  The three-pronged attachment of the upper part
of the iliotibial band to the iliac crest. There is a middle prong
(A) through the aponeurosis over the gluteus medius, an anterior
one (B) through the tensor fasciae latae, and a posterior one
(C) through the gluteus maximus. Proximally, the location of the
iliotibial tract is anterior and lateral to the axis of the hip, whereas
inferiorly, in a normal knee, it inserts on the tibia well in front of
the axis of the knee joint.
anterior border of the iliotibial tract join expansions that
emanate from the quadriceps muscle to form the lateral
patellar retinaculum. The lower end of the iliotibial band is
attached to the lateral condyle of the tibia and the head of
the fibula. Proximally the iliotibial band is located in a plane
that is anterior and lateral to the axis of the hip joint,
whereas distally in a normal limb the iliotibial tract inserts
on the tibia in front of the axis of the knee joint. Irwin
stated, however, that the lower part of the iliotibial tract
lies in a plane posterior and lateral to the axis of the
knee joint.84
Contracture of the iliotibial band may contribute directly
or indirectly to development of the deformities described
in the following subsections.48,50,84,85,174
Lower Limb
Flexion, Abduction, and External Rotation Contracture
of the Hip
The shortened iliotibial band, which is in a plane anterior
and lateral to the hip joint, draws the femur into flexion
and abduction at the hip, with the pelvis as the fixed point.
External rotation deformity results from maintenance of
the malposture of the frog-leg position. The related
muscles—the tensor fasciae latae, reflected head of the

rectus femoris, sartorius, and external rotators of the hip—
will undergo myostatic contracture if the fascial contracture
is not corrected. The fixed soft tissue contracture causes
anteversion of the proximal end of the femur.
Flexion and Valgus Deformity of the Knee
and External Torsion of the Tibia
The iliotibial band crosses lateral to the axis of the knee.
When it is contracted, a force is exerted on the lateral
aspect of the joint and the tibia is gradually abducted on
the femur. Its deforming action resembles that of a taut
string on the concavity of an archer’s bow. Irwin proposed
that flexion deformity of the knee develops as a result of
the location of the band in a plane posterior to the axis of
motion of the knee joint.84 However, subsequent studies did
not support this observation. The short head of the biceps
takes its origin in part from the intermuscular septum,
which in turn is attached to the iliotibial band. Flexion
deformity of the knee develops as a result of spasm and
subsequent myostatic contracture of the short head of the
biceps. Prolonged maintenance of the knee in flexion causes
contracture of the patellar retinacula and soft tissues behind
the knee.
External Torsion of the Tibia and Subluxation
of the Knee Joint
The pull of the laterally located iliotibial band and the short
head of the biceps femoris gradually rotates the tibia and
fibula externally on the femur. When the contracture is not
controlled, the deforming forces cause posterolateral sub-
luxation of the knee with displacement of the fibular head
into the popliteal space.
Positional Pes Varus
Positional pes varus results from an ill-fitted orthosis that
fails to compensate for the external tibial torsion. The axes
of the knee and ankle joints do not occupy the same hori-
zontal plane in external torsion of the tibia. When an above-
knee orthosis manufactured with these joints in the same
horizontal plane is fitted to a limb with external tibial
torsion, the appliance forces the foot into varus position so
that the ankle is in line with the knee joint. Initially, the
varus deformity is purely functional (the foot assumes
normal alignment when the lateral upright of the orthosis
is allowed to rotate externally on the thigh); it later becomes
fixed because of permanent shortening of the soft tissues
and adaptive osseous changes in the tarsal bones.
Pelvis and Trunk
Pelvic Deformity, Lumbar Scoliosis, and Subluxation
of the Contralateral Hip
In abduction deformity of the hip secondary to contracture
of the iliotibial band, the pelvis is level with or at a right
angle to the vertical axis of the trunk as long as the affected
hip is maintained in abduction; however, when it is brought
parallel to the vertical axis of the body in the weight-bearing
position, the pelvis is forced to assume an oblique position.
This pelvic obliquity results from contracture below the
iliac crest. Lumbosacral scoliosis, convex to the low side of
the pelvis, simultaneously develops. The contralateral hip
subluxates.
CHAPTER 37  Poliomyelitis e205
Exaggerated Lumbar Lordosis
Exaggerated lumbar lordosis is produced by bilateral flexion
contracture of the hips. It is a compensatory response to
the increased pelvic inclination when the trunk assumes an
upright position.
Pelvic Obliquity
Fixed pelvic obliquity is a common deformity after polio-
myelitis and may be caused by suprapelvic, intrapelvic, or
infrapelvic abnormalities. In an extensive study conducted
in Korean patients, pelvic obliquity was classified into two
major types and four subtypes relative to the resultant
scoliosis.99 In major type I, the pelvis is lower on the
short-leg side and we recommended ipsilateral abductor
fasciotomy and, at times, contralateral lumbodorsal fasci-
otomy to correct the deformity. In type II deformities, the
pelvis is high on the short-limb side as a result of adduction
contracture of the ipsilateral hip, abduction contracture
of the contralateral hip, or ipsilateral lumbodorsal fascial
contracture.
Treatment
Bivalved Casts
Static malpostural deformities of the lower limbs in the
acute and subacute stages of poliomyelitis can be prevented
by the use of bivalved casts to maintain the joints in neutral
position. A horizontal bar in the posterior half of the cast
or a rotational strap controls malrotation at the hips. The
knees should be in slight flexion to prevent genu recurva-
tum. Passive exercises are performed to maintain full range
of joint motion.
Passive Stretching Exercises
Minimal contracture of the iliotibial band can be corrected
by passive stretching exercises, which follow the same steps
as in the Ober test. These exercises can also be performed
with the patient supine and the hip that is to be stretched
hanging over the edge of the bed. In an older patient the
iliotibial band can be stretched by the following exercise:
the patient should stand sideways approximately 2 feet
away from the wall with the hip that is to be stretched
placed facing it. With the feet on the ground and the legs
together, the hip is brought toward the wall to the count of
10 and is then returned to the original position. This exer-
cise should be performed for 20 repetitions, 3 times a day.
Ober and Yount Fasciotomies
When the iliotibial band is contracted to such a degree that
fixed deformity at the hip and knee with tilting of the pelvis
has resulted, correction cannot be obtained by manipulative
stretching or application of a series of plaster casts. The
pelvis cannot be locked securely enough to permit stretch-
ing forces to be exerted on the shortened iliotibial band;
instead, the pelvis is tilted into an oblique and hyperex-
tended position, thereby stretching the lateral and anterior
abdominal muscles on the side of the contracture.
Surgical intervention is the only way to correct the defor-
mity. The shortened soft tissues must be sectioned proxi-
mally as well as distally by combining the Ober fasciotomy
with the Yount procedure.127,174 As stated previously, the
primary cause of the deformities is contracture of the
e206 SECTION VI  Neuromuscular Disorders

intermuscular septa, the enveloping fascia, and the fibrosed

muscular tissue in the partially involved muscles. Normal
muscle tissue should not be divided.
Both lower limbs and hips are prepared and draped in
sterile fashion. The Ober fasciotomy is performed through
an incision that starts at the junction of the posterior and
middle thirds of the iliac crest and then extends distally to
the anterior superior iliac spine, where it swings posterolat-
erally for a distance of 10 cm. The wound flaps are mobi-
lized to expose the sartorius, rectus femoris, tensor fasciae
femoris, and gluteus medius and minimus muscles. The
enveloping fascia of these muscles, the intermuscular septa,
the intervening fibrosed muscular tissue, and the iliotibial
band are sectioned as far back as the greater trochanter. The
Ober and Thomas tests are performed to determine by
palpation the occurrence of any tight bands, which are
divided if present. Normal muscle tissue and the anterior
capsule of the hip joint should not be divided. The con-
tracted fibers of the Bigelow ligament can be released
without entering the hip joint.
The Yount procedure consists of excision of a segment
of the iliotibial band and the lateral intermuscular septum
in the distal part of the thigh. A midlateral longitudinal
incision is made beginning immediately above the knee joint
line and extending cephalad for a distance of 10 cm. The
subcutaneous tissue is divided and the wound flaps are
mobilized by blunt dissection to expose the anterolateral
aspect of the thigh in its distal fourth. Next a 7-cm block
of the iliotibial band, the fascia lata covering the vastus
lateralis muscle, and the lateral intermuscular septum are
excised. It is important to divide the lateral intermuscular
septum down to the femur. If it is contracted and contribut-
ing to flexion deformity of the knee, the lateral patellar
retinaculum is also divided.
In severe cases with lateral rotatory subluxation of the
knee, the biceps femoris muscle is lengthened by the frac-
tional method, with extreme care taken not to injure the
common peroneal nerve (Plate 37-1). This lengthening can
FIGURE 37-4  Method of suspension traction after an Ober-Yount
be performed through the same incision. An attempt at release of the iliotibial band.
reduction is then made by forcibly extending and internally
rotating the knee. Often, Z-lengthening of the fibular col-
lateral ligament is necessary to achieve reduction.
Both the hip and the thigh wounds are closed routinely. Meticulous observation of circulation and sensation in the
Bilateral long-leg casts are applied with the knees held in toes is imperative, especially if excessive shortening of neu-
full extension. Metal rings are anchored to the cast on both rovascular structures was observed at surgery.
its anterior and posterior aspects so that the patient can be In patients with myelomeningocele who have impaired
placed in suspension traction. One set of rings is placed in sensation, stretching by the method described may cause
the distal fourth of the leg and another set in the proximal pressure sores. The atrophied bones of these children may
fourth. Rotational straps can be added to the plaster cast if also be fractured easily by vigorous manipulations or stretch-
necessary. The patient is placed on two or three half- ing procedures.
mattresses so that the lower limbs can hang free at the edge Passive stretching by the suspension-traction method is
of the mattress and the hips can be hyperextended or flexed continued for 3 weeks. As the child grows, with progressive
by suspension (Fig. 37-4). An infant or small child can be longitudinal growth of the femur, contracture of the ilio-
placed on a bent, hyperextended Bradford frame to achieve tibial band will recur unless passive stretching exercises and
the same result. The opposite lower limb is flexed at the proper positioning of the joints in bivalved casts are contin-
hip to obliterate the lumbar lordosis. The affected limb is ued during periods of growth.
gradually hyperextended, adducted, and internally rotated
at the hip to stretch out all remaining contractural defor-
Gluteus Medius Paralysis
mity. The same position of the hips can be achieved with
the patient prone or supine. In patients with bilateral cases When the hip abductor muscles are paralyzed, the trunk
the hips are alternated several times a day. Manipulative sways toward the affected side, and the contralateral side
stretching exercises are performed three times a day. of the pelvis drops during the weight-bearing phase of gait.
 CHAPTER 37  Poliomyelitis e207

to the upper thigh segment of the orthosis. Often, however,

Iliopsoas Muscle Transfer for Lateral Stability
of the Hip  Muscle transfers to restore gluteus maximus function are
Lateral stability of the hip joint is best achieved by transfer-
ring the iliopsoas muscle from the lesser trochanter to the
greater trochanter (Plate 37-2). I commonly perform the
Sharrard modification of the Mustard iliopsoas transfer,
which involves making the hole in the ilium as far posteri-
orly as the nerve supply to the iliacus will allow.123,124 The
importance of using a nerve stimulator while transferring
the iliopsoas muscle cannot be overemphasized. The hip
should be protected with crutches until the transferred
iliopsoas is “fair plus” or “good” in motor strength and the
Trendelenburg test is negative. During this period the
patient should sleep in a bivalved hip spica cast to maintain
the hip in 40 to 60 degrees of abduction. Active hip abduc-
tion exercises should be performed diligently, with the child
graduating from the supine position to side lying against
gravity and then to a standing Trendelenburg position.
External Oblique Muscle Transfer for Hip
Abduction  Malrotation of the limb is prevented and corrected by
The external oblique abdominal muscle can be used to
restore hip abduction power. Lowman used part of the
external oblique muscle and attached it to the greater tro-
chanter with a strip of fascia lata.107-109 Thomas and col-
leagues transferred the entire muscle belly of the external
oblique.163 The remaining abdominal muscles (rectus
abdominis, internal oblique, and transverse muscles) main-
tain integrity of the abdominal wall. I have had no personal
experience with external oblique muscle transfer for paraly-
sis of the hip abductors. Physiologically, the procedure is
sound; for details of operative technique, the reader is
referred to the original article.163 In addition, the tensor
fasciae latae muscle may be transferred posteriorly on the
iliac crest to increase hip abduction strength.100
the additional support of one or two crutches is required.
not always successful and should be undertaken only after
considerable deliberation. Lange transferred the erector
spinae muscle to the greater trochanter and used silk sutures
to obtain length.93,97 Ober and Hey Groves used a strip of
fascia lata to attach the erector spinae muscle to the greater
trochanter.64,125
The technique of Ober was further improved by Barr,
who used a wide strip of fascia lata, including the iliotibial
tract and tensor fasciae latae muscle (Fig. 37-5).7 Contrac-
tures about the hip, such as fascia and tight intermuscular
septa, are released, particularly those that are anterior and
lateral to the hip joint. Complete mobilization of the ilio-
tibial tract in addition to shift of its pull laterally to the
greater trochanter removes a major deforming force. Release
of contracted investing fascia about the shortened erector
spinae muscle permits rotation of the pelvis to a nearly
normal position and diminishes the severity of fixed lumbar
lordosis.
transfer of the insertion of the tensor fasciae latae into the
greater trochanter. Stability of the hip is provided if there
is power in the erector spinae and tensor fasciae latae
muscles, which act in conjunction as a digastric muscle
transfer. The operation does not significantly improve the

Gluteus Maximus Paralysis

Instability of the hip and exaggerated lumbar lordosis
result from paralysis of the gluteus maximus muscle. In gait,
the trunk lurches backward when body weight is borne
on the affected side. When the hip flexor muscles are of
normal strength, increasing flexion deformity of the hip
develops.
For motor evaluation of the gluteus maximus muscle, the
patient is placed prone with the lower limbs hanging off the
examining table. The knee is in flexion to eliminate action
of the hamstrings. The patient is asked to extend the hip
against gravity and manual resistance. This position also
allows the examiner to evaluate the degree of flexion defor-
mity of the hip when it is extended passively. If unable to
lift the thigh against gravity, the patient is placed in a side-
lying position to eliminate the force of gravity. Any abduc- B
tion contracture is best determined by the Ober test because
the degree of hip abduction noted on maximal extension of
the hip in prone position is not as accurate. A
In gluteus maximus paralysis, stability of the pelvis may FIGURE 37-5  Erector spinae transfer or fascia lata transfer to the
be achieved by adding posterior gluteal crisscross straps greater trochanter. A, The strip of fascia lata is mobilized. B, The
between the pelvic band and the thigh band of the above- strip is attached to the iliac wing. (Redrawn from Hogshead HP,
knee orthosis. An alternative method is to discard the pelvic Ponseti IV: Fascia lata transfer to the erector spinae, J Bone Joint
band and fit an ischial weight-bearing quadrilateral socket Surg Am 46:1390, 1964.)
e208 SECTION VI  Neuromuscular Disorders
extensor or abductor power of the hip but appears to
produce a more dynamic fasciodesis. Stance and gait are
improved by relief of hip flexion contracture, stabilization
of the hip, and relief of lumbar lordosis.148
The operative technique, as advocated by Barr in 1964,
is as follows.
Surgical Technique (Barr)
The patient, under general anesthesia, is placed in the
lateral position with both limbs flexed 90 degrees at the hip
and knee; the affected limb is uppermost, abducted, and
resting on pillows. The skin of the lumbar region, buttock,
and limb is prepared from the ribs to the midcalf. The
operative field is draped so that the limb can be moved
freely. The incision in the thigh begins just anterior to the
head of the fibula and ends proximally just distal to the
anterior superior iliac spine passing over the greater trochan-
ter. The iliotibial band is exposed throughout its full length
and breadth and is divided transversely at the level of the
distal pole of the patella. A stout silk suture is passed
through its free end, and as wide a strip of fascia as can be
obtained is dissected upward and preserved as the tendon
of insertion of the tensor fasciae latae muscle. Beginning at
the trochanteric level, the dissection is carried toward the
anterior superior iliac spine while mobilizing the distal half
of the tensor fasciae latae muscle and preserving its neuro-
vascular bundle. The intermuscular septa and other con-
tracted fascial structures at the knee and anterior to the hip
are divided as necessary while an assistant holds the hip and
knee in as much extension as possible. The sartorius and
rectus muscles are tenotomized if they are contracted
and totally paralyzed. The iliopsoas tendon, if need be, may
be divided at its insertion but should be transposed to a
more proximal and anterior position in the intertrochanteric
region. The anterior capsule of the hip may also be divided
through the same incision if it prevents extension of the hip.
The neurovascular bundle is preserved.
Subperiosteal anchorage of the fascial strip to the femur
is accomplished by making two parallel longitudinal inci-
sions, usually 5 to 6 cm long, through the origin of the
vastus lateralis and the periosteum, one on the anterolateral
and the other on the posterolateral aspect of the femur just
below the greater trochanter, and tunneling beneath the
periosteum to join the two incisions. The strip of fascia is
then passed through the tunnel and secured to the perios-
teum by silk sutures. This must be done with the hip held
in as much extension as possible, without putting undue
force on the tissues and while maintaining slight abduction
and neutral position with regard to rotation.
The lumbar incision is approximately 15 cm long. It is
made parallel to and 5 to 8 cm lateral to the line of the
spinous processes of the fourth and fifth lumbar and first
sacral vertebrae. The inferior end of the incision is located
medial to and about 5 cm distal to the posterior superior
iliac spine. The incision is deepened through the lumbodor-
sal fascia, which is reflected to expose the underlying erector
spinae muscle. By blunt dissection along a vertical line,
the lateral two thirds of this muscle mass is mobilized and
freed from the medial third, which is left attached to the
adjacent spinous processes and laminae. The mobilized
muscle is freed by sharp dissection from its origin to the
ilium and sacrum. Because the nerve and blood supply
to this muscle is segmental and enters from its ventral
surface, it may be necessary to sacrifice one or two of the
most distal neurovascular bundles to mobilize a 10-cm
length of muscle mass.
By means of a long tendon carrier, the free end of the
fascia lata is passed within the gluteal muscle compartment
and enters the lumbar incision just medial to the posterior
superior iliac spine. The tunnel at its point of emergence is
carefully dilated by the surgeon’s finger so that the fascia
can glide freely. The gliding deep surface of the fascia should
be placed as it lies ventrally. With the hip held in extension,
the fascia is attached, under moderate tension, to the free
end of the mobilized erector spinae muscle. This is best
done by laying the ventral surface of the muscle on the
subcutaneous surface of the fascial strip, passing the suture
in the end of the fascia through the muscle as far proximally
as possible, and then fixing the edges of the fascia to the
edges of the muscle flap by a series of interrupted sutures.
The distal end of the muscle is thus covered on its deep
surface by the fascia lata. The lumbar incision is closed in
layers; it is usually possible to close the lumbodorsal fascia
partially over the transplant. The thigh incision is closed in
routine manner. No attempt should be made to close the
defect in the fascia of the thigh. After the application of
sterile dressings, the extremity is immobilized by elastic
bandages and long plaster splints that extend from the ribs
to the toes. The hip is immobilized in as much extension as
can be obtained comfortably. No attempt is made to correct
the hip flexion contracture completely at this time.
Technique for Correction of Remaining
Contractures in Poliomyelitic Deformities
After 10 days to 2 weeks, when the incisions have healed,
the remaining contractures are gradually stretched out.
The lumbar spine and the opposite lower extremity are
immobilized in a spica with that hip in sufficient flexion
to obliterate the lumbar lordosis. A separate toe-to-groin
cast is applied to the affected limb with the knee prefer-
ably in almost complete extension. With the patient supine
the affected limb in its plaster cast is suspended from
an overhead frame. The contracture can then be stretched
gradually and completely by lowering the limb incremen-
tally each day until the hip comes into hyperextension.
During this procedure circulation and sensation in the
toes should be watched carefully, especially if excessive
shortening of the femoral vessels and nerves was observed
at surgery.
If a knee flexion deformity is present, it may be cor-
rected simultaneously by wedging the cast.
As a rule the deformity is satisfactorily corrected in 2
to 3 weeks. The apparatus is then removed and assistive
muscle reeducation exercises are begun with the patient in
recumbency. Underwater exercises are of value. A bivalved
long spica to hold the hip in the corrected position should
be worn at night for several months. Walking with crutches
is permitted as soon as the transplant functions satisfacto-
rily, usually approximately 6 weeks postoperatively. Many
patients require bilateral transplants and should undergo
surgery in two stages 4 to 6 weeks apart. Careful gait train-
ing is essential if the best results are to be obtained.8
Hogshead and Ponseti found formation of an erector
spinae flap in myelomeningocele to be difficult. The

procedure was bloody and the ramifications of the menin-
gocele sac were inadvertently entered; this resulted in trou-
blesome drainage of cerebrospinal fluid through the wound.
Because, in their experience, erector spinae transfer did not
provide active power of hip extension or abduction, these
surgeons recommended attachment of the distal end of the
fascia lata band to the freed lumbodorsal fascia at the level
of the third or fourth lumbar vertebra (Fig. 37-6). They
termed the operative procedure fascia lata transfer to the
A maximus and medius muscles are paralyzed and the hip
B Acquired hip dislocation does not usually occur in a
FIGURE 37-6  Fascia lata transfer to the lumbodorsal fascia to
provide posterior stability to the hip joint. A, The strip of fascia
lata is mobilized. B, The strip is overlapped with erector spinae
fascia. (Redrawn from Hogshead HP, Ponseti IV: Fascia lata transfer
to the erector spinae, J Bone Joint Surg Am 46:1404, 1964.)
CHAPTER 37  Poliomyelitis e209
erector spinae.76 The route of the transfer should be sub-
fascial, and its direction from the greater trochanter to the
region of the posterior superior iliac spine should be as far
posterior as possible.
Caution should be exercised during anterior release of
soft tissue contractures of the hip. Every effort should be
made to preserve viable muscles and their nerve and blood
supply. To prevent anterior dislocation of the femoral head,
the anterior capsule of the hip should not be sectioned.
When contracture of the anterior capsule is fixed and it
limits extension of the hip, the anterior capsule should be
released.
In the Sharrard modification of the Mustard operation,
a hole is made in the posterior part of the ilium, and the
iliacus muscle is sutured to the lateral surface of the ilium
(see Plate 37-2). The operation was designed to provide
power of hip extension, as well as hip abduction. Unfortu-
nately, the motor nerve supply of the iliacus muscle is fre-
quently distal in its location, thus limiting the degree of
posterior positioning of the iliac hole. In my experience, the
Sharrard iliopsoas transfer has not been successful in provid-
ing active power of hip extension against gravity in the
presence of complete paralysis of the gluteus maximus
muscle. When the hamstring muscles are normal in motor
strength and the gluteus maximus is only partially para-
lyzed, this procedure restores functional strength of hip
extension and provides substantial improvement in gait.
Paralytic Dislocation of the Hip
Hip dislocation in poliomyelitis is an acquired deformity
caused by flaccid paralysis and the resulting muscular imbal-
ance that develops. In a young child when the gluteus
flexors and adductors are of normal strength, eventual luxa-
tion of the hip is almost inevitable. Loss of hip abductor
power causes retardation of growth from the greater tro-
chanteric apophysis. Disparity of relative growth from the
capital femoral epiphysis and the greater trochanteric
apophysis causes increasing valgus deformity of the femoral
neck. In severe cases the angle between the neck and shaft
of the femur increases to 180 degrees. Excessive anteversion
of the femoral neck may also develop. When the angle
between the femoral neck and the horizontal plane of the
pelvis approaches 90 degrees, the hip joint becomes
mechanically unstable. Under the forces of body weight,
the capsule gradually becomes lax and the femoral head
rides out of the acetabulum. The empty acetabulum retains
adequate depth for several years after paralytic dislocation.
With lack of concentric pressure of the femoral head in the
acetabulum, however, progressive shallowness and obliquity
of the acetabular roof develop. Thus factors in the patho-
genesis of true paralytic dislocation are muscle imbalance,
coxa valga, and laxity of the capsule. In treatment, it is
important to remember that coxa valga precedes sublux-
ation and shallowness of the acetabulum.86,87,143
totally flail lower limb, particularly if the patient has been
walking with the support of an orthosis. If inadequately
treated, however, abduction-flexion–external rotation con-
tracture may develop in the flail hip as a result of shortening
of the iliotibial band. When the lower limbs are aligned
e210 SECTION VI  Neuromuscular Disorders
parallel to the vertical axis of the body in the weight-bearing
position, the pelvis is forced into an oblique position. The
contralateral hip—the one on the high side of the pelvis—is
in a markedly functional valgus position and eventually
becomes dislocated. Pelvic obliquity may also result from
the foregoing factors; another cause may be severe struc-
tural scoliosis in the suprapelvic region. This type of scolio-
sis should be distinguished from the positional scoliosis that
is produced by pelvic obliquity as a result of contractural
deformities below the pelvis.
Surgical Treatment
A review by Lau and associates of surgical treatment of
paralytic dislocations of the hip in poliomyelitis patients
demonstrated that the keys to successful reduction are res-
toration of muscle balance, correction of the femoral neck-
shaft angle, correction of anteversion, and restoration of
acetabular coverage.98 We also emphasize the importance of
posterior acetabular coverage.
Muscle Transfer
Dynamic balance about the hip is restored by appropriate
muscle transfers. If the age at onset of paralysis and muscle
imbalance is younger than 2 years, iliopsoas transfer to
restore power of hip abduction is performed when the child
is 4 or 5 years of age. If the coxa valga deformity is less than
150 degrees, a preliminary varization osteotomy is unneces-
sary; the valgus deformity will correct itself with growth
once hip abductor power is restored. If the coxa valga
deformity is greater than 150 degrees, it is best to correct
the deformity and obtain a femoral neck-shaft angle of 110
degrees before iliopsoas transfer.
If at the time of paralysis the patient is older than 2
years, iliopsoas transfer may be postponed and the stability
of the hip monitored periodically with radiographs. When
the coxa valga exceeds 160 degrees and the femoral head
starts to subluxate laterally, varization osteotomy is per-
formed. In patients younger than 6 years, the femoral neck-
shaft angle is reduced to 105 degrees; in older patients the
angle is corrected to 125 degrees. Often, if dynamic muscle
imbalance persists, valgus deformity will recur with growth.
The procedure should be followed in 6 months to a year by
transfer of the iliopsoas.
Varization Osteotomy
The operative technique of varization osteotomy follows the
same principles as those of valgus osteotomy, as described
in Chapter 35. Any adduction contracture of the hip should
be passively stretched and corrected by split Russell trac-
tion, with the hips gradually brought into wide abduction.
Adductor myotomy of the hip should be avoided whenever
possible. The anterolateral surface of the subtrochanteric
region of the femur is subperiosteally exposed, as described
in Plate 37-3. The line of osteotomy is shaped like a modi-
fied dome with a lateral buttress of cortical bone in the
proximal segment to lock the upper end of the distal
segment while the femoral shaft is adducted. This proce-
dure is the reverse of valgus osteotomy. Rotational malalign-
ment can be corrected at the same time. I use Crow pins
or threaded Steinmann pins and a Roger Anderson appara-
tus to fix the fragments together. Other surgeons may use
a bone plate with four screws, a blade plate, or two staples.
It is a matter of personal preference and depends on
past experience. Blundell Jones exposed the trochanteric
region of the proximal end of the femur posterolaterally
with the patient in the prone position and corrected the
valgus deformity by excising a wedge of bone with its base
medially.86,87
When the hip is completely dislocated, the hip joint
capsule is stretched out and lax. Paralytic hip dislocation is
easily reduced. In the beginning the femoral head can be
relocated into the acetabulum by simple abduction of the
hip. Later, however, soft tissue contracture may develop,
and an initial period of skin or skeletal traction is then
indicated. Prolonged immobilization of the hip in a spica
cast after reduction is not recommended. Once the cast is
removed, the dislocation will recur. The use of a solid hip
spica cast does not correct the etiologic factors, and it has
the additional disadvantage of causing disuse atrophy of
muscles and bone. To stimulate normal proximal femoral
growth, weight bearing should be restored as soon as
possible.
Reefing and repair of the capsule are essential. These
procedures are described and illustrated in Plate 16-3. An
iliopsoas transfer is performed at the same time to restore
power of hip abduction and muscle balance about the hip.
If the acetabulum is shallow and maldirected, the procedure
may be combined with a Salter innominate osteotomy.
Arthrodesis of the Hip
Fusion of the hip in poliomyelitis may increase the ability
to walk and eliminate the need for orthotic support. The
procedure does have serious disadvantages, however, which
should be carefully considered. Sharp and colleagues
reported a series of 16 hip fusions performed in children
for paralysis caused by poliomyelitis.147 The number of frac-
tures (8 of the femur and 1 of the tibia) was high. In addi-
tion, there were 3 cases of pseudarthrosis and 1 of slipped
capital femoral epiphysis. In 3 patients the hip was fused
and subsequently required correction by femoral osteot-
omy. One patient had marked limitation of knee motion
after prolonged immobilization in the cast; in another,
amputation was indicated because of excessive shortening
of the limb.
A stiff hip burdens the spine and knee with abnormal
stress and strain. Thus ligamentous instability of the knee,
progressive lumbosacral scoliosis, and trunk instability sec-
ondary to extensive paralysis of the abdominal muscles are
absolute contraindications to hip fusion in poliomyelitis. A
functional quadriceps femoris is desirable but not absolutely
necessary, as long as the patient has no flexion deformity of
the knee and stability of the foot and ankle is provided by
a strong triceps surae muscle or by pantalar arthrodesis in
a 15-degree equinus position. Stability of the flail knee is
achieved as body weight falls on the ball of the foot, forces
the heel onto the ground, and drives the knee into hyper-
extension (Fig. 37-7).
Hallock in 1942, 1950, and 1958 reported an enlarging
series of hip fusions performed in patients with flail lower
limbs as a result of poliomyelitis.67-69 At first the procedure
was used only in patients with painful arthritic subluxation
or dislocation of the hip or when previous reconstructive
operations such as open reduction, shelf stabilization, or
muscle transfers had failed. Hallock later extended his

A B
FIGURE 37-7  The principle of dynamic knee stabilization when
the hip is fused and the ankle is fixed in a slightly equinus
position. A, A collapsible knee, when the hip and ankle are flail.
B, Stability of the knee is achieved when body weight falls on the
ball of the foot, forces the heel to the ground, and locks the knee,
thereby driving it into hyperextension.
indications to include several individuals with severe hip
lurch from extensive hip muscle paralysis without disloca-
tion. He reported gratifying results: the arthrodesis relieved
pain, achieved stability, and decreased the limp. Hallock
recommended that optimum position of fusion to be 35
degrees of flexion, neutral rotation, and a neutral abduction-
adduction position, except in female patients or when con-
siderable shortening is present, in which case 10 or 15
degrees of abduction is advised for biologic reasons and to
compensate in some measure for the inequality of leg
length.68
When marked shortening of the flail limb makes equal-
ization impractical, hip fusion should not be performed. The
age of the patient is another consideration; it is imperative
that the patient be mature enough to understand the dis-
advantages of a stiff hip. Hip fusion in a patient with a para-
lytic flail lower limb is controversial and should be considered
only after thorough and meticulous assessment of the
patient.
Management of the Knee
Quadriceps Femoris Paralysis
The quadriceps is commonly affected by poliomyelitis.
When the patients have slight genu recurvatum with ade-
quate strength of the triceps surae and hamstring muscles,
the knee is stabilized by locking it in hyperextension (Fig.
37-8). Patients so treated are able to walk satisfactorily.
During the stance phase of gait, quadriceps weakness is
compensated for by tilting the trunk and center of gravity
CHAPTER 37  Poliomyelitis e211
A B C
FIGURE 37-8  The effect of muscle-controlled or fixed talipes
equinus on extension of the knee. A, Normal action of the soleus
as an extensor of the knee with the foot on the ground. B, The
soleus as a fixator of the foot in equinus position. C, Rigid equinus
foot showing the effect of body weight in extending the knee.
Vertical arrows represent body weight; horizontal arrows indicate
the direction of movement on the knee joint.
of the body forward. The only functional disabilities are
difficulty climbing steps and running. In the presence of
knee flexion deformity, however, the knee joint becomes
unstable because it cannot be locked in hyperextension.
Muscle Transfer
Indications and Contraindications
Several muscles have been transferred to restore knee
extension power, namely, the biceps femoris, semitendino-
sus, sartorius, tensor fasciae latae, and adductor longus.†
When the hamstring muscles are normal, they can be trans-
ferred anteriorly to the patella and ligamentum patellae to
provide extension and stability of the knee. This procedure
is advised when instability of the knee interferes with ordi-
nary walking or when the patient will be able to dispense
with an orthosis after such a transfer. Each case, however,
must be considered individually. When the hip flexors are
less than “fair” in motor strength, anterior transfer of the
hamstrings is absolutely contraindicated. After surgery the
patient will be unable to clear the limb from the floor, and
consequently the disability will be greater. The triceps surae
muscle must be at least “fair” in strength; if not, with loss
of all dynamic posterior knee support, marked genu recur-
vatum will develop. It is preferable to have adequate
strength of the gluteus maximus and hip abductor muscles.
Before tendon transfer, any flexion contracture of the
knee and equinus deformity of the ankle should be fully
corrected by wedging casts. The mechanics of the patello-
femoral articulation should be normal. Any significant
malalignment of the lower limb, such as marked genu
valgum, should also be corrected preoperatively.
Transfer of both the biceps femoris and the semitendi-
nosus muscle is the procedure of choice. The strength of
the tensor fasciae latae and sartorius muscles is not suffi-
cient to substitute for the quadriceps. In an electromyo-
graphic study of 21 patients with paralysis of the lower limb
†
References 16, 21, 39, 75, 92, 94, 130, 133, 144, 165.
e212 SECTION VI  Neuromuscular Disorders
secondary to poliomyelitis in whom 39 muscle transfers for
quadriceps paralysis were performed, Sutherland and asso-
ciates reported the following results: 10 to 14 hamstring
transfers achieved conversion from swing phase to stance
phase activity (roughly comparable to that of the normal
quadriceps femoris), and 2 of 11 sartorius transfers and 4
of 12 tensor fasciae latae transfers achieved stance phase
activity.162
Surgical Technique
The operative technique of transfer of the biceps femoris
and semitendinosus muscles, as described by Crego and
Fischer39 and Schwartzmann and Crego,144 is as follows (Fig.
37-9). The patient is placed supine with a large sandbag
under the ipsilateral hip so that the patient is tilted 45
degrees to the opposite side and the knee to be operated
on is in semiflexion. A longitudinal incision is made over the
posterolateral aspect of the thigh, starting immediately
above the head of the fibula and extending proximally to
terminate at the junction of the proximal and middle thirds
of the thigh. The subcutaneous tissue and deep fascia are
incised in line with the skin incision. The common peroneal
nerve, located posteromedial to the biceps tendon, is identi-
fied and gently retracted posteriorly with moist umbilical
tape. The biceps femoris tendon is dissected free of its sur-
rounding soft tissues and retracted anterolaterally. At its
point of attachment to the fibular head the lateral collateral
ligament adheres to the biceps tendon; great caution must
be exercised to protect and not divide it. Next the biceps
tendon is detached from its insertion on the head of the
fibula. Using sharp and blunt dissection, the surgeon frees
the muscle bodies of the short and long heads of the biceps
muscle proximally as high as possible while taking care to
Semitendinosus
tendon
Biceps Posteromedial
femoris incision
tendon
Semitendinosus
tendon
divided at
insertion
FIGURE 37-9  Transfer of the semitendinosus and biceps femoris
tendons to the patella to restore knee extension.
preserve their nerve and blood supply. The new direction
of the line of pull of the transfer must be as nearly vertical
as possible; if the transferred tendons run horizontally, the
muscles will pull the patella in a posterior direction.
Next a transverse incision is made over the anterior
aspect of the knee, centered over the distal third of the
patella. The subcutaneous tissue and deep fascia are divided.
The wound flaps are undermined to expose the patella and
patellar tendon. During a large Ober tendon transfer, a wide
subcutaneous tunnel is made extending from the patella
incision to the incision on the lateral aspect of the thigh. A
10- to 15-cm-long segment of the intermuscular septum
and the iliotibial band is excised to allow free gliding of the
transferred muscle belly.
The sandbag is next removed and placed under the oppo-
site hip so that the patient is positioned semilaterally, turned
to the ipsilateral side. A longitudinal incision is made over
the posteromedial aspect of the thigh, beginning 3 cm prox-
imal to the popliteal crease and extending to the junction
of the middle and proximal thirds of the thigh. The subcu-
taneous tissue and deep fascia are divided. The semitendi-
nosus tendon is isolated, and through a separate small
incision over the anteromedial aspect of the proximal part
of the leg it is detached from its insertion on the tibia. It is
easy to identify the semitendinosus tendon in the distal leg
wound by pulling on it in the proximal thigh wound; ana-
tomically at its insertion the semitendinosus tendon is
located posterior to the sartorius tendon and inferior to the
tendon of the gracilis. The semitendinosus tendon is then
delivered into the proximal wound and dissected free to the
middle third of the thigh. Through a wide subcutaneous
tunnel from the anterior transverse knee incision to the
posteromedial thigh incision, the semitendinosus tendon is
rerouted and delivered into the prepatellar area. Again the
deep fascia is widely incised to avoid angulation and to
permit free gliding of the semitendinosus tendon.
Next the prepatellar bursa is reflected and retracted to
one side and an I-shaped incision is made through the quad-
riceps tendon and periosteum over the anterior surface of
the patella. These tissues are stripped and reflected medi-
ally and laterally. With a 9 64 -in drill, oblique longitudinal
tunnels are made through the patella, starting at the supero-
lateral and superomedial poles of the patella and emerging
on each side of the patellar tendon. The tunnels are enlarged
with progressively increasing sizes of hand drills and curets.
The operator must be careful not to damage the articular
surface of the patella.
With braided silk whip sutures on their ends, the biceps
femoris tendon and the semitendinosus tendon are each
pulled through their respective tunnels in the patella and
sutured to the patellar tendon under tension. Additional
interrupted sutures are placed proximally and distally to fix
the biceps and semitendinosus tendons to the rectus femoris
and patellar tendons. The soft tissues are sutured over the
anterior aspect of the patella and the wounds are closed. A
long-leg cast that holds the knee in neutral position but not
in hyperextension is applied.
Postoperative Care and Functional Training
Meticulous postoperative care is important to obtain a sat-
isfactory result. Tension on the transferred hamstring is
prevented by avoiding flexion of the hip. The patient is kept
 CHAPTER 37  Poliomyelitis e213

supine in bed for 3 weeks, and it should be strongly empha-

Flexion Deformity of the Knee
sized to personnel that the patient is not to sit.
Functional training of the transfer is begun 3 to 5 days Contracture of the iliotibial band secondary to the static
after surgery or as soon as the patient is comfortable. The forces of malposture of a flail lower limb causes flexion
patient is placed on his or her side to eliminate the force contracture of the knee, along with flexion-abduction–
of gravity. The knee and hip are slightly flexed, and the external rotation deformity of the hip, genu valgum, and
patient is asked to extend the hip and knee. Active con- external tibial torsion. This deformity is preventable and, if
traction of the hamstrings as knee extensors is initiated by minimal, can be corrected by passive exercises and wedging
having the patient execute his or her former action of hip casts.38,72 When it is marked, an Ober-Yount open surgical
extension. Active guided knee extension exercises are then release of the contracted iliotibial band is required.
performed from starting positions of greater knee flexion Flexion contracture of the knee may also result from a
and decreasing hip flexion; the patient should soon be dynamic imbalance between the quadriceps femoris and
encouraged to divorce the two movements of knee and hamstring muscles (Fig. 37-10). As stated previously, when
hip extension. The active exercise of knee extension is flexion deformity of the knee is present, paralysis of the
performed with the hip in the partially flexed position of quadriceps muscle cannot be compensated for by locking
the normal pattern of locomotion without, however, the knee in hyperextension, and the knee is then unstable.
extending the hip. Thus it is imperative that the knee flexion deformity be
The function of the antagonistic muscles should not be fully corrected.
ignored. Active knee flexion exercises are carried out It is important to understand the pathomechanics of a
(through a limited range initially) while making sure that knee that has become fixed in flexion. In a normal knee the
the transferred muscle is not used for both extensor and last 5 degrees of extension is accompanied by medial rota-
flexor functions. tion of the femur on the tibia, a movement that tightens
As soon as the transferred muscle is “fair minus” in the collateral ligaments and oblique posterior ligament, thus
motor strength, the patient, while still supine in bed, is locking the knee in extension. Because the axis of knee
asked to go slowly through the motions of walking: namely, motion passes not through the joint line but through the
ankle-foot dorsiflexion and hip flexion, followed by knee upper attachments of the collateral ligaments, the tibial
extension (using the transfer), hip extension, and ankle plateau must glide forward on the femoral condyles. In
plantar flexion. The same exercises are performed standing, fixed flexion deformity of the knee this normal gliding
first in parallel bars and then in crutches. During the stance movement does not take place; instead, a simple rocking
phase, hyperextension of the knee should be avoided. A motion occurs. When the knee is forced into extension, the
bivalved cast is worn at night for 8 to 12 months to prevent
stretching of the transferred muscles. Orthotic devices to
support the knee are not usually necessary unless their use
is indicated for control of the foot and ankle.
Complications
Genu recurvatum is a not infrequent complication; it occurs
in 10% to 20% of reported cases and is a natural conse-
quence of an operation in which the hamstring muscles that
normally provide dynamic support to the knee posteriorly
are removed and transferred anteriorly. Other factors con-
tributing to its pathogenesis are (1) pes equinus, (2) selec-
tion of patients with inadequate (less than “fair”) strength
in the triceps surae muscle, (3) immobilization of the knee
in hyperextension in the postoperative period, (4) lack of
an adequate and diligent postoperative exercise regimen
with resultant failure to develop active knee flexion against
gravity, and (5) improper use of orthotic support after
surgery. The development of genu recurvatum can be mini-
mized if the preceding factors are circumvented.
Lateral instability of the knee often results from inadver-
tent operative division of the tibial or fibular collateral liga-
ments while detaching the semitendinosus and biceps
tendons from their insertion.
Lateral dislocation of the patella commonly occurs when
the biceps femoris alone is transferred. This complication
can be prevented by transfer of both the biceps and the
semitendinosus muscles.
Failure of transfer may result from denervation of FIGURE 37-10  Flexion deformity of the right knee in poliomyelitis.
muscles during proximal dissection, inadequate postopera- A dynamic imbalance between the quadriceps femoris and
tive training, or binding down of the transfer by adhesions hamstring muscles caused the deformity. Note also the
in sharp angular pathways to the patella. calcaneovalgus deformity of the right foot.
e214 SECTION VI  Neuromuscular Disorders

tibia subluxates posteriorly, and the knee joint becomes

incongruous and painful. When correcting a fixed flexion
deformity of the knee it is important to preserve joint con-
gruity by pulling the tibial plateau forward on the femoral
condyles. This is accomplished by applying skeletal traction
through a pin in the proximal end of the tibia after section
of the contracted iliotibial band and patellar retinacular
expansions that are usually adherent to the joint capsule and
that obliterate the lateral recesses. Posterior capsulotomy of
the knee is not usually required.
Supracondylar osteotomy may be indicated in patients
with a marked fixed flexion deformity and structural bony
changes in the femoral condyles. Osteotomy is also indi-
cated to align the lower limb when significant genu valgum
persists after correction of soft tissue contracture.65
Asirvatham and associates warned against the use of a
proximal tibial extension and medial rotation osteotomy to
correct knee flexion contracture and tibial lateral rotation
deformity simultaneously.4 Recurrence of contracture, genu
recurvatum, and peroneal palsy complicated the outcome.

Genu Recurvatum
Hyperextension of the knee in poliomyelitis may develop
as a result of stretching of the soft tissues in the back of the
knee, or it may be caused by structural bony changes, with
depression and downward sloping of the anterior portion of
the tibial plateau.
Genu Recurvatum Caused by Stretching
of the Soft Tissues in the Back of the Knee
Genu recurvatum can occur in patients with extensive
paralysis of the lower limb with marked weakness of the
hamstrings, triceps surae, and quadriceps femoris muscles
(Fig. 37-11). There is frequently calcaneus deformity of
the foot. With continued weight bearing, the hamstring
and triceps surae muscles and the capsule and ligaments in
the posterior aspect of the knee stretch and elongate. The
degree of genu recurvatum rapidly increases with loss of the
support normally provided by the muscles and ligaments.
The functional disability is usually great; an above-knee
orthosis with a posterior knee strap is often required to
support the knee.
Heyman recommended the use of peroneal tendons to
construct posterior check ligaments for preventing hyper-
extension of the knee.79-81 When the patient has associated
excessive lateral instability of the knee, the collateral liga-
ments are also reinforced. The tendons are passed through
drill holes placed superior to the epiphyseal plate at the
lower end of the femur and inferior to the epiphyseal plate
of the upper end of the tibia, thus avoiding any injury to
the epiphyseal plate. The tendons are firmly anchored with
the knee in 30 degrees of flexion. An above-knee cast is
worn for 6 weeks. The knee is then further protected for 3
months in an above-knee orthosis that limits extension of
the knee to 5 degrees less than neutral. In a long-term
follow-up note, Heyman reported complete and lasting cor-
rection in five cases, with extension of the knee limited to
a point just short of neutral. In my experience, however,
under the force of body weight, the tendons and shortened
soft tissues eventually become stretched and the deformity
recurs. I recommend the Heyman tenodesis operation for
FIGURE 37-11  Genu recurvatum in a patient with chronic
poliomyelitis.
genu recurvatum in a patient younger than 10 years, in
whom osseous structural changes in the tibial plateau have
not yet taken place. To prevent deformity from recurring
until skeletal growth has been completed, the patient sleeps
in a bivalved night cast that holds the knee in 40 degrees of
flexion. For walking, the knee is held in 5 to 10 degrees of
flexion in an above-knee orthosis.
Genu Recurvatum Resulting From Ankle
Equinus and Hamstring Weakness
This type of genu recurvatum develops in patients with an
equinus deformity of the ankle with normal triceps surae
and hamstring muscles but a weak quadriceps femoris
muscle. The paralyzed quadriceps muscle is unable to lock
the knee in neutral extension, and on heel strike the proxi-
mal end of the tibia is forced into hyperextension with
limited dorsiflexion of the ankle. With continued walking
and the stress of weight bearing, the anterior portion of the
tibial plateau becomes depressed and is tilted inferiorly. The
bony deformity is corrected either by open-up wedge oste-
otomy or by close-up wedge osteotomy of the proximal end
of the tibia.83,160 The procedure is usually performed at the
subcondylar level distal to the proximal tibial tubercle. It is
best to delay surgery until skeletal growth is completed. The
technique described by Irwin is simple and satisfactory (Fig.
37-12, A and B).83 A modified dome-shaped osteotomy
achieves the same result (Fig. 37-12, C and D).
We, however, prefer an open-up wedge osteotomy (Fig.
37-12, E and F). The operative technique is as follows. A

A B
C D
Graft
E F
FIGURE 37-12  Surgical methods of correcting genu recurvatum.
A and B, The Irwin technique. C and D, Modified dome
osteotomy. E and F, Open-up wedge osteotomy.
curved transverse incision is made across the anterior aspect
of the leg, centered 1.5 cm distal to the proximal tibial
tubercle. The lateral limb of the incision is continued proxi-
mally to terminate immediately superior and posterior to
the upper end of the fibula. Subcutaneous tissue and fasciae
are divided in line with the skin incision, and the wound
flaps are mobilized and retracted. First, the neck and 2 cm
of the proximal shaft of the fibula are exposed extraperios-
teally. Meticulous attention must be paid to avoiding damage
to the common peroneal nerve and proximal fibular epiphy-
seal plate (if open). With drill holes and a sharp thin osteo-
tome, a simple short oblique osteotomy of the proximal
shaft of the fibula is performed. Often it is desirable to
excise a wedge of bone from the proximal end of the fibula
with its base facing posteriorly.
Next a T-shaped incision is made in the periosteum over
the anteromedial surface of the proximal end of the tibia.
CHAPTER 37  Poliomyelitis e215
The growing apophysis of the proximal tibial tubercle and
the upper epiphyseal plate of the tibia should not be dis-
turbed by stripping the periosteum. The level of osteotomy
is immediately distal to the proximal tibial tubercle; its line
is marked with a starter, and then holes are drilled through
the anteromedial and lateral cortices, with the posterior
cortex of the tibia left intact.
Three large, threaded Steinmann pins are chosen, and
their fit in the Roger Anderson apparatus is double-checked.
Starting from the medial side, the first threaded Steinmann
pin is placed transversely through the distal portion of the
proximal fragment. The pin should just engage in the lateral
cortex of the tibia (thereby avoiding injury to the common
peroneal nerve), and it should be more posterior in position,
away from the proximal tibial tubercle. The second and
third Steinmann pins are placed transversely through the
distal fragment of the tibia 5 and 10 cm, respectively, distal
to the osteotomy site. The tibia is then divided with an
osteotome, leaving the posterior cortex intact. When the
proximal tibial fragment is kept in maximal hyperextension
by forward pull on the first Steinmann pin and by manual
pressure on the anterior surface of the knee and distal
part of the thigh, the leg and the distal segment of the tibia
are forced posteriorly and a wedge-shaped defect is created
at the osteotomy site with its base facing anteriorly. A
lamina spreader may be used effectively to open up the
wedge.
Osteotomes of different widths are placed into the
osteotomy site to determine the size of the iliac bone
graft wedges, which are taken in routine manner with both
cortices intact. It is best to obtain radiographs with the
proper osteotome placed at the osteotomy site to double-
check the correction. The degree of angulation at the oste-
otomy site should be approximately 10 degrees greater than
that of the genu recurvatum, and the longitudinal axis of
the distal fragment of the tibia should be parallel to that
of the femur. The proximal tibial fragment should be in
hyperextension.
Next two iliac bone graft wedges are placed at the oste-
otomy site (one is medial, the other lateral to the tibial
crest); they are locked in place with an impactor. The sur-
rounding spaces are firmly packed with bone graft chips.
The lateral bars of the Roger Anderson apparatus are tight-
ened to provide additional stability to the osteotomy site.
The correction obtained is then rechecked with radiographs.
The wound is closed in the usual manner. The Roger Ander-
son apparatus is padded with petrolatum gauze to prevent
its incorporation into the cast. An above-knee cast is applied
with the knee in extension.
Mehta and Mukherjee reported successful use of a
femoral osteotomy to correct genu recurvatum, with flat-
tening of the femoral condyles.120 Deformity recurred in
only one case.
Flail Knee
A flail knee is unstable (Fig. 37-13). For weight bearing it
requires the support of an above-knee orthosis with a drop-
lock knee. With such an orthosis, the patient is able to flex
the knee while sitting. Arthrodesis of the knee should not
be performed in children; it is best postponed until adult-
hood, when the patient is mature enough to understand and
e216 SECTION VI  Neuromuscular Disorders
FIGURE 37-13  Bilateral unstable flail knees in a patient with chronic poliomyelitis.
assess the advantages and disadvantages of a fused stiff
knee. In patients with unilateral involvement I do not rec-
ommend arthrodesis of the knee, especially if they have
associated muscle weakness of the hip and foot. When both
lower limbs are paralyzed, however, one limb can be sup-
ported in an above-knee orthosis and the other knee stabi-
lized by fusion, provided the hip has normal musculature
and the foot is fixed in a slightly equinus posture. The
technical details of arthrodesis of the knee are described in
the literature.35,122
In a large series of patients, Men and colleagues reported
good results with soft tissue releases, extension osteoto-
mies of the femur, and a patellar bone block for genu
recurvatum.121
Management of Specific Deformities
of the Foot and Ankle
Paralysis of the muscles acting on the foot may result in
various deformities and functional disability of the foot,
depending on the particular muscle or muscles involved and
the strength of the remaining musculature.
Normal Physiology
Stability of the foot depends on several factors: the contour
of the bones and the articular surfaces, the integrity of the
ligamentous and capsular support, and the motor strength
of the muscles. The combined mobility of the foot and
ankle is equal to that of a universal joint. Motions of the
ankle, subtalar, and midtarsal joints are related to each
other. In inversion of the hindfoot, for example, the os calcis
is displaced forward, and adduction and inversion of the
forefoot are produced; when the hindfoot is everted, the os
calcis moves backward and the forefoot is abducted and
everted. When the ankle joint is plantar flexed, the hindfoot
inverts, whereas in dorsiflexion of the ankle, the hindfoot
everts. The foot is most stable in eversion and dorsiflexion
and least stable in equinus position and inversion.
The muscles that produce plantar flexion are the
gastrocnemius-soleus, flexor hallucis longus, flexor digito-
rum longus, peroneus longus, peroneus brevis, and posterior
tibial. Dorsiflexor muscles are the anterior tibial, extensor
hallucis longus, extensor digitorum communis, and pero-
neus tertius. The muscles that produce inversion are the
posterior tibial, flexor hallucis longus, and anterior tibial;
the evertors of the foot are the peroneus brevis, peroneus
tertius, extensor digitorum communis, and extensor hallucis
longus. The muscles that plantar flex the ankle and foot
provide the force for forward propulsion of the body during
locomotion. The dorsiflexor muscle group clears the foot
during the swing phase of gait.
Approximately two thirds of the total musculature of
the leg is constituted by the triceps surae, one of the stron-
gest muscles in the body. It acts on the foot as a first-class
lever with the ankle joint as a fulcrum. The working capac-
ity of the triceps surae is 6.5 kg/m, whereas that of the
dorsiflexors of the ankle joint is only 1.4 kg/m, or a relative
ratio of 4 : 1. This gross discrepancy in muscle mass between
the plantar flexors and dorsiflexors of the ankle is the result
of developmental and mechanical factors. The strength of
the calf muscles is a necessary antigravitational force against
the elevated center of gravity of the body in the upright
posture. Moreover, because the center of gravity of the
human body falls anterior to the ankle joint, the triceps
surae must counteract a strong rotatory component in ankle
dorsiflexion. The muscles that provide lateral stability to
the foot in plantar flexion are the posterior tibial and pero-
neals, whereas in dorsiflexion, lateral stability is provided
by the action of the anterior tibial and extensor digitorum
communis.

Treatment of Muscle Imbalance
Muscle imbalance produces progressive deformity. This
deformity is flexible in the beginning, but with skeletal
growth, fixed soft tissue and structural osseous deformity
will develop. The deformities of the foot and loss of func-
tion produced by muscle imbalance are predictable. The
dynamic imbalance from paralysis of the major muscle
groups, the resultant deformity, and its treatment are pre-
sented in Table 37-1.
Paralysis of the Peroneal Muscles
When the peroneus longus and brevis muscles are paralyzed,
the os calcis is pulled into inversion by the strong posterior
tibial muscle. The forefoot adducts after inversion of the
hindfoot and also because of the unopposed action of the
anterior tibial muscle. A varus deformity of the foot gradu-
ally develops (Fig. 37-14). Normally the peroneus longus
depresses the first metatarsal, and the anterior tibial raises
it. When the peroneus longus muscle is paralyzed, the first
metatarsal becomes dorsiflexed by the unopposed action of
the anterior tibial, and a dorsal bunion results. The opposing
actions of the peroneus longus and anterior tibial muscles
on the first metatarsal should always be considered when-
ever a dynamic imbalance exists between the two.
Treatment consists of lateral transfer of the anterior
tibial to the base of the second metatarsal bone. Lateral
stability of the foot is then adequate, and arthrodesis is
not required.
Paralysis of the Peroneals, Extensor Digitorum
Longus, and Extensor Hallucis Longus
The deformity resulting from paralysis of these muscles
consists of moderate varus and some degree of equinus.
Dynamic balance of the foot is restored by lateral transfer
of the anterior tibial tendon to the base of the third meta-
tarsal bone (Video 37-1). Pes valgus may result if the ante-
rior tibial is transferred to the fourth or fifth metatarsal
bone.
A longitudinal incision is made over the medial aspect of
the foot, beginning at the base of the first metatarsal bone
and extending proximally parallel to the course of the ante-
rior tibial tendon for a distance of 3 cm. The anterior tibial
tendon is detached from its insertion into the base of the
first metatarsal bone and the medial surface and undersur-
face of the first cuneiform bone. A Mersilene or Dacron
whip suture is inserted into the distal end of the tendon.
By sharp dissection, the tendon is mobilized over the
dorsum of the foot. The dorsalis pedis artery, lying between
the tendon of the extensor hallucis longus and the first
tendon of the extensor digitorum longus, should not be
divided.
A second 8- to 10-cm longitudinal incision is then made
over the anterior tibial compartment in the distal third of
the leg, beginning at the upper border of the transverse
crural ligament. The subcutaneous tissue and deep fascia are
divided. The anterior tibial tendon is located immediately
on the tibia. The anterior tibial vessels lie between the
anterior tibial and extensor hallucis longus muscles in the
middle third of the leg. At the ankle, the extensor hallucis
longus tendon crosses the anterior tibial vessels from the
lateral to the medial side. The deep peroneal nerve is
CHAPTER 37  Poliomyelitis e217
located on the lateral side of the anterior tibial vessels in
the upper third of the leg, in front of the artery in the
middle third, and then again lateral in the distal third. Care
should be taken not to injure the deep peroneal nerve and
the anterior tibial vessels. The anterior tibial sheath is
divided, and by gentle traction, using the two-hand tech-
nique, the tendon is delivered into the proximal wound.
Transfer of the anterior tibial tendon on the dorsum of the
foot distal to the transverse crural ligament from the medial
to the lateral side does not correct the varus action of the
muscle.
Next an incision 3 cm long is made over the dorsum of
the foot with its center over the base of the third metatarsal
bone. With an Ober tendon passer, the anterior tibial tendon
is delivered into the dorsum of the foot, by passing deep to
the transverse crural ligament to produce straight dorsiflex-
ion. It is securely fixed to the base of the third metatarsal
bone with the ankle joint in neutral position or dorsiflexed
5 degrees. The muscle should be under physiologic tension.
The wounds are closed in routine fashion and a long-leg cast
is applied with the ankle in 5 degrees of dorsiflexion and
the knee in 45 degrees of flexion.
Paralysis of the Anterior Tibial Muscle
Dorsiflexor and inversion power of the foot are lost when
the anterior tibial muscle is paralyzed, and an equinovalgus
deformity of the foot develops (Fig. 37-15). The toe exten-
sors are overactive in an attempt to substitute for the action
of the anterior tibial muscle in dorsiflexion of the ankle. The
proximal phalanges of the toes become hyperextended and
depress the metatarsal heads, thereby causing a cock-up
deformity of the toes. Equinus deformity of the ankle grad-
ually results from contracture of the triceps surae. Occa-
sionally a cavovarus deformity of the foot may result from
the action of the peroneus longus muscle, which acts as a
depressor of the first metatarsal. On active dorsiflexion of
the ankle the forefoot is everted, but on weight bearing it
goes into inversion to permit horizontal contact of all meta-
tarsal heads with the ground. The heel inverts after inver-
sion of the forefoot.
During the convalescent phase of poliomyelitis aggres-
sive measures should be taken to retain passive range of
dorsiflexion of the ankle joint. Passive heel cord–stretching
exercises are performed every day. At night, a bivalved cast
or a plastic splint is used to hold the ankle in neutral posi-
tion, and during the day an ankle-foot dorsiflexion-assist
orthosis supports the ankle and foot.
If proper treatment is neglected, a fixed equinus defor-
mity may develop. In that event, the heel cord should not
be lengthened, and every effort should be made to retain
full function of the triceps surae muscle. Range of dorsiflex-
ion of the ankle may be obtained with a wedging cast or a
below-knee walking cast with an anterior heel. In severe
fixed equinus deformity, posterior capsulotomy of the ankle
and subtalar joints is performed and the heel cord is
stretched with skeletal traction through a threaded Stein-
mann pin in the os calcis. Functional disability is great after
the loss of plantar flexion power.
Dorsiflexion power of the ankle is restored by anterior
transfer of the peroneus longus tendon to the base of the
second metatarsal bone. The peroneus brevis is sutured to
the distal stump of the peroneus longus. The operative
e218 SECTION VI  Neuromuscular Disorders

Table 37-1  Tendon Transfers for Paralytic Deformities of the Foot and Ankle
Dynamic Imbalance

Paralyzed or Weak Normal or Strong* Deformity of Foot Tendon Transfer Remarks

Peroneus longus Anterior tibial Varus Lateral transfer of Perform transfer before fixed
Peroneus brevis Extensor hallucis Dorsal bunion (first anterior tibial to deformity develops
longus metatarsal base of second Lateral stability will be retained
Extensor digitorum dorsiflexed because metatarsal Do not transfer more lateral than
communis of unopposed second metatarsal in presence
Posterior tibial action of anterior of strong extensor digitorum
Gastrocnemius-soleus tibial) communis (will cause pes
Flexor hallucis longus valgus)
Flexor digitorum
longus
Peroneus longus Anterior tibial Varus, some equinus Lateral transfer of Do not transfer further lateral than
Peroneus brevis Posterior tibial anterior tibial to base of third metatarsal (will
Extensor digitorum Gastrocnemius-soleus base of third cause pes valgus)
communis Flexor hallucis longus metatarsal
Extensor hallucis Flexor digitorum
longus longus
Peroneus longus Posterior tibial Equinovarus Anterior transfer of Postoperatively, equinovarus
Peroneus brevis Gastrocnemius-soleus posterior tibial deformity should be fully
Extensor digitorum Flexor hallucis longus tendon through corrected by stretching cast or
communis Flexor digitorum interosseous soft tissue surgery
Extensor hallucis longus space to base of May consider reinforcing posterior
longus third metatarsal tibial transfer by adding flexor
Anterior tibial hallucis longus or flexor
digitorum longus to anterior
transfer through interosseous
space; anterior tenodesis to
prevent dropping down of foot
is another choice
Postoperatively, support transfer by
dorsiflexion-assist below-knee
orthosis
Anterior tibial Peroneus longus Equinovalgus Anterior transfer of Do not attach peroneus longus to
Peroneus brevis Cock-up deformity of peroneus longus first metatarsal (will displace it
Extensor hallucis toes (overactivity of to base of upward and cause dorsal
longus toe extensors second bunion)
Extensor digitorum displaces proximal metatarsal Transfer long toe extensors to
communis phalanges of toes (suture peroneus heads of metatarsals if cock-up
Gastrocnemius-soleus into hyperextension brevis to distal deformity of toes is present
Posterior tibial and depresses stump of If both peroneals are transferred,
Flexor hallucis longus metatarsal heads) peroneus lateral instability of foot will
Flexor digitorum Occasionally cavovarus longus) develop, necessitating
longus deformity of foot stabilization by subtalar
results (unopposed extraarticular or triple
peroneus longus arthrodesis
acts as depressor of
first metatarsal)
Gastrocnemius- Peroneus longus Calcaneus or Posterior transfer (to Caution—Prevent development of
soleus (motor Peroneus brevis calcaneocavus os calcis) of both dorsal bunion by lateral transfer
strength zero or Flexor hallucis longus peroneals, of anterior tibial to base of
trace) Posterior tibial posterior tibial, second metatarsal within a year
Flexor digitorum and flexor In adolescent patient with fixed
longus hallucis longus calcaneus deformity, before
Anterior tibial tendon transfers, perform triple
Extensor hallucis arthrodesis with posterior shift
longus of os calcis to correct bony
Extensor digitorum deformity
communis In young child, calcaneus deformity
will correct with subsequent
growth; however, subtalar
extraarticular arthrodesis may be
required for lateral stability
 CHAPTER 37  Poliomyelitis e219

Table 37-1  Tendon Transfers for Paralytic Deformities of the Foot and Ankle, cont’d
Dynamic Imbalance

Paralyzed or Weak Normal or Strong* Deformity of Foot Tendon Transfer Remarks

Gastrocnemius- See previous Calcaneus or Posterior transfer (to Suture distal stump of peroneus
soleus (motor calcaneocavus os calcis) of longus to peroneus brevis
strength poor) posterior tibial Watch closely for possible
and peroneus development of dorsal bunion;
longus lateral transfer of anterior tibial
to base of second metatarsal
may be indicated
Gastrocnemius- Anterior tibial Calcaneovarus Posterior transfer (to Suture distal stump of flexor
soleus Flexor hallucis longus os calcis) of hallucis longus to flexor hallucis
Posterior tibial Extensor hallucis anterior tibial brevis
Peroneus longus longus and flexor Interphalangeal joint fusion of great
Peroneus brevis Extensor digitorum hallucis longus toe may be necessary
communis
Flexor digitorum
longus
Anterior tibial Peroneus longus Calcaneovarus Posterior transfer (to Perform triple arthrodesis in
Gastrocnemius- Peroneus brevis os calcis) of both adolescence to provide lateral
soleus Posterior tibial peroneals and stability to hindfoot
Flexor hallucis longus posterior tibial
Flexor digitorum
longus
Extensor hallucis
longus
Extensor digitorum
longus
Gastrocnemius- Anterior tibial Calcaneovarus Posterior transfer (to Protect transfer with plantar
soleus Extensor hallucis os calcis) of flexion–assist orthosis until
Posterior tibial longus anterior tibial skeletal maturity
Peroneus longus Extensor digitorum Consider Achilles tendon tenodesis
Peroneus brevis communis In adolescence, if adequate
Flexor hallucis function exists in transferred
longus anterior tibial, foot is stabilized
Flexor digitorum by triple arthrodesis
longus If anterior tibial function is
inadequate, Chuinard-type ankle
fusion is performed (will provide
stability and gait will improve
considerably)
Gastrocnemius- Extensor hallucis Calcaneovalgus Ankle fusion Stability and muscle control of knee
soleus longus (minimal) (Chuinard type) should be adequate
Posterior tibial Extensor digitorum Flexion of toes and Pantalar arthrodesis Full knee extension and functioning
Peroneus longus communis metatarsus varus Resect motor hamstrings are prerequisite
Peroneus brevis None except short Hindfoot neutral or branches of Same as above
Flexor hallucis toe flexors and valgus (may be in plantar nerves
longus intrinsic muscles inversion due to
Flexor digitorum of foot contracture of
longus plantar fascia)
Anterior tibial
Flail ankle and foot
(all muscles
paralyzed)
Anterior tibial Gastrocnemius-soleus Equinus Anterior transfer of Do not lengthen Achilles tendon
Extensor hallucis Flexor digitorum flexor digitorum (will produce calcaneus
longus longus longus and deformity)
Extensor digitorum Flexor hallucis longus flexor hallucis Disability is minor (patient must lift
communis through leg to clear toes)
Peroneus longus interosseous Stretch triceps surae; use night
Peroneus brevis space support to prevent fixed
Posterior tibial Anterior tenodesis equinus deformity

*Italics indicate major muscle affected.

e220 SECTION VI  Neuromuscular Disorders
FIGURE 37-14  Paralytic pes varus. The deformity is the result of paralysis of the peroneus longus and brevis muscles. The hindfoot is
inverted by the pull of the strong posterior tibial muscle, and the forefoot is adducted and inverted by the unopposed action of the
anterior tibial muscle. Note that the dorsiflexed first metatarsal has produced a dorsal bunion.
FIGURE 37-15  Equinovalgus deformity of the foot as a result of
paralysis of the anterior tibial muscle.
technique and postoperative care for anterior transfer of the
peroneus longus are described and illustrated in Plate 37-4.
The peroneus longus tendon should not be attached to the
base of the first metatarsal because it will displace the bone
upward and cause a dorsal bunion. If a cock-up deformity
of the toes is present, the long toe extensors are transferred
to the heads of the metatarsals. If both peroneals are
transferred, lateral instability of the foot will develop and
require stabilization of the hindfoot by extraarticular sub-
talar arthrodesis or triple arthrodesis.
Paralysis of the Anterior Tibial Muscle,
Toe Extensors, and Peroneals
An equinovarus deformity of the foot develops from
the unopposed action of the posterior tibial and triceps
surae muscles (Fig. 37-16). Treatment consists of anterior
transfer of the posterior tibial tendon through the interos-
seous space to the base of the third metatarsal or second
cuneiform (Plate 37-5). Preoperatively, equinovarus defor-
mity should be fully corrected by a stretching cast. Soft
tissue release may be indicated for correction of the fixed
pes varus.
The flexor digitorum longus or flexor hallucis longus may
be transferred anteriorly through the interosseous route to
reinforce the strength of dorsiflexion power of the posterior
tibial transfer. Anterior tenodesis is another method of pre-
venting the foot from dropping down in plantar flexion. In
the postoperative period, the anterior transfer and tenodesis
should be supported in an ankle-foot dynamic dorsiflexion-
assist orthosis during the day and a bivalved cast or plastic
splint at night.
Paralysis of the Triceps Surae Muscle
When the gastrocnemius and soleus muscles are weak or
paralyzed, the patient walks with a calcaneus limp (i.e.,
there is weakness or lack of push-off). The tibia is displaced
posteriorly on the talus by the forward thrust of the trunk,
and the foot is forced into excessive dorsiflexion at the ankle
joint.
The Achilles tendon inserts into the posterior aspect of
the apophysis of the os calcis. Normally the force exerted
by the triceps surae muscle elevates the heel, depresses the
anterior end of the os calcis, and pushes the body forward.
The longitudinal arch is flattened as the head of the talus
plantar flexes with the anterior end of the os calcis. In
paralysis of the gastrocnemius and soleus muscles, the head
of the talus and the anterior end of the os calcis are dis-
placed upward to a more vertical position. This results in
disappearance of the normal prominence of the heel and an
increase in the range of dorsiflexion of the ankle (Fig.
37-17). When the accessory plantar flexor muscles (i.e., the
posterior tibial, flexor hallucis longus, flexor digitorum
 CHAPTER 37  Poliomyelitis e221

FIGURE 37-16  Equinovarus deformity of the

right ankle and foot caused by unopposed
action of the triceps surae and posterior tibial
muscles.

FIGURE 37-17  Calcaneus deformity of the foot and ankle. Note the posterior shift of the tibia over the talus during push-off.
e222 SECTION VI  Neuromuscular Disorders
FIGURE 37-18  Calcaneocavus deformity of the left foot and ankle.
longus, and peroneals) are strong, the forefoot is forced into
an equinus position, thereby producing a calcaneocavus
deformity. The foot is shortened by plantar flexion of the
metatarsals and by rotation of the os calcis into a vertical
position. Soon the plantar fascia and short flexors of the
toes contract and act as a bowstring, which pulls the meta-
tarsal heads and the os calcis together and increases the
cavus deformity (Fig. 37-18). The calcaneocavus deformity
progressively increases with every step. With paralysis of
the triceps surae, growth of the apophysis of the os calcis
is retarded. This is particularly important in a young child
in whom, after early and successful posterior tendon trans-
fer to the os calcis, the calcaneus deformity of the heel may
be restored to normal.
The triceps surae muscle is the strongest muscle of the
foot. Therefore it is desirable to transfer three or four
muscles posteriorly to the os calcis, depending on their
availability and the degree of weakness of the triceps surae.
Plantar flexion at the ankle is more important functionally
than dorsiflexion.
When the motor strength of the triceps surae muscle is
“zero,” the peroneus longus and brevis, posterior tibial, and
flexor hallucis longus are transferred to the os calcis. The
anterior tibial is transferred laterally to the base of the
second metatarsal within a year to prevent the formation of
a dorsal bunion. In adolescents with a fixed calcaneus defor-
mity, the hindfoot is stabilized by triple arthrodesis, the
bony deformity is corrected, and the os calcis is shifted
posteriorly. In a young child, calcaneus deformity will be
corrected by subsequent growth if the posterior transfer is
successful; however, a subtalar extraarticular arthrodesis
may be required later for lateral stability.
Only the peroneus longus and posterior tibial muscles
are transferred when the gastrocnemius-soleus muscles are
“poor” in motor strength. The distal stump of the peroneus
longus is sutured to the peroneus brevis. If a dorsal bunion
tends to develop, lateral transfer of the anterior tibial to the
base of the second metatarsal may again be indicated.
When the posterior tibial and peroneal muscles are para-
lyzed along with the triceps surae, the muscles available for
posterior transfer are the anterior tibial and flexor hallucis
longus. The flexor digitorum longus may be added if neces-
sary. The interphalangeal joints, particularly that of the great
toe, are fused.
When the anterior tibial muscle is paralyzed with the
triceps surae, posterior transfer of both peroneals and the
posterior tibial is performed; lateral stability of the hindfoot
is provided by triple arthrodesis.
The anterior tibial muscle is transferred to the os calcis
when all the plantar flexor muscles are paralyzed. The pos-
terior transfer is protected with a plantar flexion–assist
ankle-foot orthosis until skeletal maturity. Achilles tendon
tenodesis may be performed to provide posterior stability
to the ankle joint. In adolescence, when plantar flexion
function of the transferred anterior tibial is adequate, the
hindfoot is stabilized by triple arthrodesis.
When anterior tibial function is inadequate, a Chuinard-
type ankle fusion is performed. If only the toe extensors are
functioning, no muscles will be available for posterior trans-
fer. An ankle fusion is performed, provided stability and
muscle control of the knee are adequate.
The operative technique and postoperative care for
posterior tendon transfer to the os calcis are presented in
Plate 37-6.
A dorsal bunion is characterized by dorsiflexion of the
first metatarsal and plantar flexion of the great toe (Fig.
37-19). It is caused by muscle imbalance—weakness or
absence of the peroneus longus muscle (plantar flexor of the
first metatarsal) against normal strength of the anterior
tibial muscle (dorsiflexor of the first metatarsal) or flexor
hallucis brevis and longus. There are two types of dorsal
bunion: one characterized by primary dorsiflexion of the

first metatarsal and secondary plantar flexion of the hallux
and another characterized by primary plantar flexion of the
hallux with resultant upward displacement of the metatar-
sal head. I have treated dorsal bunion successfully by
open-up wedge osteotomy of the base of the first metatarsal
and transfer of the flexor hallucis longus to the head of the
first metatarsal.
McKay transferred tendinous insertions of the flexor
hallucis brevis and abductor and adductor hallucis to the
neck of the first metatarsal (Fig. 37-20). He believed that
these muscles provide greater mechanical advantage than
the flexor hallucis longus after transfer. Furthermore, the
deforming action of the flexor hallucis brevis is also removed.
A longitudinal incision is made on the medial aspect of the
foot from the base of the first metatarsal to the
FIGURE 37-19  Dorsal bunion of the right foot. Note the
dorsiflexion of the first metatarsal and the plantar flexion
of the great toe. (Courtesy D.W. McKay, MD.)
A B
FIGURE 37-20  The McKay technique for correction of a dorsal bunion. A, Plantar view of the right foot showing section of the abductor
hallucis, adductor hallucis, and flexor hallucis brevis from the base of the proximal phalanx. B, Tendinous portions of these muscles
transferred to the neck of the first metatarsal, as seen from the plantar aspect. C, Dorsal view showing tendons transferred to the dorsum
of the neck of the first metatarsal. (Redrawn from D.W. McKay, MD.)
CHAPTER 37  Poliomyelitis e223
interphalangeal joint of the great toe. The abductor hallucis
and medial part of the flexor hallucis brevis are identified,
detached from their insertion, and dissected free; as much
tendon as possible should be preserved (Fig. 37-21, A). The
lateral tendon of the flexor hallucis brevis and the tendon
of the adductor hallucis are then sectioned from their inser-
tion and dissected free. The sesamoid bones in the tendi-
nous part of the flexor hallucis brevis are carefully removed.
If the patient has associated hallux valgus, the abductor
hallucis is left intact; if hallux varus is present, the adductor
hallucis is left attached to its insertion. Next a circumfer-
ential incision is made in the periosteum of the first meta-
tarsal at its neck and elevated for a distance of 1 cm. The
abductor hallucis and medial part of the flexor hallucis
brevis are transferred medially to the dorsal aspect of the
metatarsal neck; the adductor hallucis and lateral part of
the flexor hallucis brevis are transferred dorsally between
the first and second metatarsals (Fig. 37-21, B). All four
tendons are sutured together to create a myotendinous ring
around the neck of the metatarsal (Fig. 37-21, C; see also
Fig. 37-20C). The collar of periosteum is sutured to the
tendon. Next the interphalangeal joint of the great toe is
stabilized by tenodesis or arthrodesis. A below-knee walking
cast is applied and worn for 3 to 4 weeks. McKay reported
complete correction in 10 feet (Figs. 37-22 and 37-23).
Westin and associates reported that tenodesis of the
Achilles tendon to the fibula resulted in improved gait
in 66 consecutive patients.170 However, 16 feet (24%)
required revision because of the development of an equinus
contracture.
Arthrodesis of the Foot and Ankle
In the operative treatment of a paralyzed foot, many surgi-
cal procedures have been developed to provide stability,
correct deformity, and improve function.
C
e224 SECTION VI  Neuromuscular Disorders

A B C
FIGURE 37-21  Operative views of the McKay technique for correcting a dorsal bunion. A, Note the abductor hallucis muscle. B, The
suture on the right is attached to the abductor hallucis and the medial head of the flexor hallucis brevis; the other suture is attached to
the adductor hallucis and the lateral head of the flexor hallucis brevis. The flexor hallucis longus tendon is in the middle of the wound.
C, The four tendons are sutured over the dorsum of the neck of the first metatarsal and to the adjoining capsule and periosteum to
provide a myotendinous ring. (Courtesy D.W. McKay, MD.)

B
FIGURE 37-22  The McKay technique for correction of a dorsal
bunion. A, Preoperative lateral radiograph of the foot showing the
deformity. B, Postoperative lateral radiograph of the foot. Note
the excellent correction. (Courtesy D.W. McKay, MD.)

B
FIGURE 37-23  Dorsal bunion corrected by the McKay technique.
A, Preoperative photograph. The dorsal bunion developed after a
cuneiform opening wedge osteotomy (Fowler procedure) for a
cavovarus foot. B, Postoperative lateral view of the foot showing
correction. (Courtesy D.W. McKay, MD.)
 CHAPTER 37  Poliomyelitis e225

Table 37-2  History of Stabilizing Operations of the Foot and Ankle

Year Surgeon Procedure

1879 Albert Tibiotarsal or ankle joint arthrodesis

1879 Von Lesser Tibiotarsal or ankle joint arthrodesis
1884 Samster Ankle and subtalar joint arthrodesis
1901 Whitman Talectomy and posterior displacement of the foot
1905 Nieny Talocalcaneal and talocalcaneonavicular or subtalar arthrodesis
1908 Jones Talocalcaneal and talocalcaneonavicular or subtalar arthrodesis
1908 Goldthwait Supratalar and infratalar arthrodesis
1911 Lorthioir Pantalar arthrodesis (temporary removal of the talus)
1911 Ombredanne Surgical approach for exposure of the subtalar and midtarsal joints
1912 Soule Talonavicular arthrodesis
1912 Soule Talonavicular and subtalar arthrodesis
1913 Davis Subtalar arthrodesis (transverse horizontal section of the tarsus) with posterior displacement
of the foot
1915 Albee Talonavicular arthrodesis with a bone graft peg
1916 Davis Subtalar or calcaneotalar and calcaneotalonavicular arthrodesis
1919 Dunn Midtarsal tarsectomy and calcaneotalar arthrodesis
1920 Toupet Posterior bone check
1921 Hoke Calcaneotalonavicular arthrodesis; resection, reshaping and reimplantation of the head and
neck of the talus, and posterior displacement of the foot
1922 Dunn Excision of navicular bone, calcaneotalocuneiform and calcaneocuboid arthrodesis with
posterior displacement of the foot
1922 Putti Anterior bone check
1922 Steindler Pantalar arthrodesis (talus not temporarily removed)
1923 Ryerson Triple (subtalar and calcaneocuboid) arthrodesis
1923 Ryerson Lateral arthrodesis (cuneonavicular, first and fifth tarsometatarsal arthrodesis)
1923 Campbell Posterior bone block
1925 Smith and von Calcaneotalonavicular and calcaneocuboid arthrodesis, excision of the head and neck of the
Lackum talus with posterior displacement of the foot
1927 Lambrinudi Resection of a wedge of bone from the plantar aspect of the head and neck of the talus to
lock the talus in equinus position at the ankle while the rest of the foot is in the desired
degree of dorsiflexion
1933 Brewster Calcaneonaviculocuneiform arthrodesis, excision of the head and neck of the talus, posterior
displacement of the foot, and countersinking of the body of the talus in the os calcis
1935 Girard Arthrodesis of the subtalar and calcaneocuboid joints, shortening of the neck of the talus,
posterior displacement of the foot, and construction of ankle joint mortise
1952 Grice Extraarticular arthrodesis of the subtalar joint
1963 Chuinard and Peterson Distraction-compression bone graft arthrodesis of the ankle

The history of the evolution of stabilizing operations of
the foot and ankle is presented in Table 37-2. Detailed
accounts of these procedures can be found in the original
articles and in comprehensive historical reviews by Hart,
Hallgrimsson, and Schwartz.66,73,143
In general, stabilizing operations on the foot and ankle
can be subdivided into the following: (1) triple arthrodesis,
(2) extraarticular subtalar arthrodesis, (3) ankle fusion and
pantalar arthrodesis, and (4) anterior or posterior bone
blocks to limit motion at the ankle joint. These procedures
may be performed alone or in combination.
Triple Arthrodesis
This procedure was devised by Ryerson in 1923 and consists
of fusion of the subtalar, calcaneocuboid, and talonavicular
joints.134
e226 SECTION VI  Neuromuscular Disorders

Indications and Preoperative Considerations

The triple arthrodesis operation is designed to provide

lateral stability, and it will also correct deformity if the
articular surfaces are resected with removal of wedges to
correct deformity. In locomotion, the essential motions of
the foot and ankle are plantar flexion and dorsiflexion. In
the presence of muscle weakness, triple arthrodesis stabi-
lizes the hindfoot and diminishes the functional demand on
the remaining active muscles by reducing the number of
joints that they control. Triple arthrodesis is described and
illustrated in Plate 37-7.
The subtalar and midtarsal joint motions are particularly
important for balance during walking on rough or uneven
terrain. The loss of lateral mobility of the hindfoot after
triple arthrodesis may result in difficulty in locomotion on
an irregular surface.
Because triple arthrodesis may exert excessive ligamen-
tous strain on the ankle joint, it is imperative to determine
the stability of the body of the talus in the ankle mortise.
This is done clinically by testing passive lateral motion of
the ankle. If ankle stability is questionable, weight-bearing
anteroposterior (AP) radiographs of the ankle are obtained
with the hindfoot first in forced maximal eversion and
abduction and then in forced inversion and adduction. Nor-
mally, there is no lateral motion of the body of the talus in
the ankle mortise except when the ankle is in marked
plantar flexion; lateral motion may then be present in
minimal amount. In patients with marked instability of the
ankle joint, varus or valgus deformity of the hindfoot may
recur after triple arthrodesis, and stabilization of the ankle
joint may be indicated.
Anterior subluxation of the ankle joint may be present
in severe equinus deformity and should be ruled out by
obtaining lateral radiographs of the ankle with the foot in
maximal plantar flexion and in forced dorsiflexion.
Alignment and weight-bearing lines of the lower limb
should be carefully studied. The presence of bowleg, knock-
knee, or any excessive medial or lateral tibial torsion should
be noted. Lateral tibial torsion and genu valgum are common
deformities in poliomyelitis. In stance, does the center of
gravity of the body fall on the second metatarsal bone?
Failure to recognize malalignment of the leg results in
improper positioning of the foot. During surgery it is man-
datory that the knee be draped in sterile fashion in the
operative field. The foot should be aligned with the ankle
mortise and not with the knee (Fig. 37-24). Any significant
torsional or angular deformity of the leg is corrected at a
subsequent operation.
The growth of the foot in a young child should not be
disturbed. The tarsal bones grow concentrically at their
periphery, and resection of their articular surfaces inhibits
their growth. Triple arthrodesis should be deferred until the
foot has achieved skeletal maturity, which is 10 to 12 years
in girls and 12 to 14 years in boys.
The osseous deformity of the foot should be carefully
analyzed on the preoperative radiographs. These images
should include AP and mediolateral weight-bearing views of
the foot and ankle. It is important to obtain the radiographs
with the foot held in the positions of maximum correction.
Tracings of the foot are made on x-ray negative films. The
foot and ankle are divided into three segments according
A B C
FIGURE 37-24  Alignment of the foot. A, Normal foot, ankle, and
knee alignment without tibial torsion. B, Incorrect. The foot is
aligned with the knee, not the ankle, in the presence of external
tibial torsion. C, Correct. The foot is aligned with the ankle joint in
the presence of external tibial torsion. (Redrawn from Patterson
RL, Parrish FF, Hathaway EN: Stabilizing operations on the foot,
J Bone Joint Surg Am 32:3, 1950.)
to function: (1) the talus with the tibia and ankle joint;
(2) the os calcis; and (3) the tarsal bones, the joints distal
to the midtarsal joint, and the metatarsals and phalanges.
The talus is the only tarsal bone that transmits the entire
body weight; thus the importance of double-checking the
stability of the body of the talus in the ankle mortise cannot
be overemphasized.
The pattern of osteotomies and the plane of resection of
the articular surfaces of each joint should be carefully and
precisely planned. It is best to draw these lines on tracings
of the preoperative lateral radiographs of the foot.
Surgical Technique
Varus Deformity Correction.  In the correction of varus
deformity, a wedge of bone with its base facing laterally is
resected from the talonavicular and calcaneocuboid joints
(Fig. 37-25). Lateral displacement of the forefoot is often
prevented by the “beak” of the navicular bone, which pro­
jects posteriorly along the medial side of the head of the
talus. It is important to excise this “beak” flush with the
main body of the navicular, through a separate incision if
necessary. The planes of osteotomies of the talonavicular
and calcaneocuboid joints should be parallel to each other
in the vertical axis to achieve close apposition of bones. To
correct varus deformity of the heel, a laterally based wedge
is resected from the subtalar joint. Most of the bone should
be removed from the superior surface of the calcaneus.
Only a minimal amount of bone should be excised from the
talus. A slight valgus position of the heel provides stability;
however, the hindfoot should not be placed in more than 5
to 10 degrees of eversion because it will cause difficulty in
 CHAPTER 37  Poliomyelitis e227

Navicular Cuboid

Talus Calcaneus
Bone wedges resected

Talus
Calcaneus

E
FIGURE 37-25  Wedges of bone to be resected for correction of pes varus. A to C, Three views of the varus deformity. Shaded areas show
the amount of bone wedges to be resected. D to F, Corrected positions of the bones postoperatively.
e228 SECTION VI  Neuromuscular Disorders
proper wearing of shoes and is not cosmetically satisfactory.
A varus position of the heel should not be accepted.
Valgus Deformity Correction.  Valgus deformity of the foot
is corrected by excision of a medially based wedge from the
midtarsal area and another wedge, also based medially, from
the subtalar region. The use of a laminectomy spreader in
the subtalar joint adequately exposes the medial side of the
hindfoot. Great care should be taken not to injure the pos-
terior tibial nerves and artery, which lie adjacent and super-
ficial to the flexor hallucis longus tendon. In a valgus foot,
the os calcis is everted and the head of the talus is plantar
flexed over the medial aspect of the foot. The common
tendency is to excise a large wedge to reduce the calcaneus
medially beneath the talus. This should be avoided because
it reduces the height of the hindfoot and lowers the mal-
leoli, thereby resulting in a wide ankle contour and extreme
difficulty in fitting shoes. When correcting severe valgus,
varus, or calcaneus deformity of the foot, it is best to add
bone graft wedges rather than excise too much bone. Resec-
tion of excessive bone from the talus and navicular may also
cause avascular necrosis of these tarsal bones with subse-
quent degenerative arthritis of the ankle and pseudarthrosis
of the talonavicular joint.
el-Batouty and co-workers described a modified tech-
nique of triple arthrodesis to correct paralytic pes valgus.46
Calcaneus Foot Deformity Correction.  For restoration
of alignment of a calcaneus foot, a wedge of bone based
posteriorly is resected from the subtalar joint (Fig. 37-26).
Patients often have an associated cavus deformity, which
is corrected by excising a dorsally based wedge from the
talonavicular and calcaneocuboid joints. It is imperative
to displace the os calcis posteriorly to provide a longer
lever arm. When contracted, the anterior capsule of the
ankle joint is stretched out preoperatively by passive manip-
ulation and corrective casts. Release of soft tissue contrac-
ture may be indicated when the contracture is fixed. It
is imperative to obtain normal range of plantar flexion of
the ankle.
In severe talipes calcaneus, the bony deformity and soft
tissue contracture are rigid, and the talus and os calcis are
fixed in marked dorsiflexion. The associated cavus defor-
mity is marked, with severe contracture of the plantar fascia
and osseous changes in the midtarsal bones. Correction of
the deformity by wedge resections results in an appreciable
reduction in height and length of the foot.
Plantar fasciotomy is performed first. The anterior
capsule of the ankle joint is released through an anterolat-
eral approach. Next the articular surfaces of the subtalar,
talonavicular, and calcaneocuboid joints are resected mini-
mally to expose raw cancellous bone. The calcaneus defor-
mity is corrected by inserting an anteriorly based wedge of
bone graft into the subtalar joint. Forefoot equinus defor-
mity can be corrected by excising a wedge of bone based
dorsally from the talonavicular and calcaneocuboid joints. I
frequently postpone surgical correction of the cavus defor-
mity until solid healing of the triple arthrodesis has taken
place. During application of the above-knee cast, however,
it is important to immobilize the heel in moderate plantar
flexion and the forefoot in maximal dorsiflexion. A common
pitfall is to hold the forefoot in equinus position, which
permits the cavus deformity to increase. The metatarsal
heads should be well padded to prevent skin sloughing.
Three to 4 months later the metatarsals are osteotomized
at their base and elevated into dorsiflexion to correct the
forefoot equinus deformity. In this way, some degree of
mobility of the naviculocuneiform and cuneiform metatar-
sal joints is preserved.
Talectomy corrects the severe calcaneus defor-
mity.80,110,164,171,172 However, it reduces the height of the
foot, lowers the malleoli, and causes great difficulty in
fitting shoes. This is particularly disturbing to women.
Fibroarthrosis and degenerative arthritis of the ankle joint
often develop in later years. For these reasons, astragalec-
tomy is not recommended.
In the classic triple arthrodesis, it is difficult to displace
the os calcis backward. Dunn described a method of excis-
ing the navicular and part of the head and neck of the talus
to permit posterior displacement of the calcaneus.44,45 Hoke
had previously resected the navicular and head and neck of
the talus; after subtalar joint resection and posterior dis-
placement of the foot, he recommended reshaping and
reimplanting the head and neck of the talus.79 The Hoke
and Dunn procedures, however, shorten the foot and
increase the likelihood of pseudarthrosis of the talonavicular
joint. For these reasons, I prefer correction of calcaneus
deformity by bone graft wedges.
Pes Equinus Deformity Correction.  In correction of pes
equinus, fixed contracture of the posterior capsule of the
ankle and subtalar joints and the triceps surae muscle must
be corrected preoperatively. As stated previously, function
of the gastrocnemius-soleus muscles should be maintained
as much as possible. Wedging casts are tried first, followed
by posterior capsulotomy and skeletal traction through the
os calcis. In severe equinus deformity, limited heel cord
lengthening may have to be performed, but it is preferable
to leave some tightness of the triceps surae. It is imperative
that the foot be dorsiflexed to neutral position; otherwise,
a rocker-bottom deformity will result. In patients with cere-
bral palsy, I maintain reduction with a large Kirschner wire.
One pin is placed through the os calcis into the talus and
across the ankle joint into the tibia, whereas the other
transfixes the talonavicular joint. When equinus posture
results simply from footdrop and the foot can be passively
dorsiflexed beyond neutral position, it is preferable to
perform tendon transfer anteriorly to provide power of
active dorsiflexion. If adequate muscles are not available for
anterior transfer, the triple arthrodesis may be modified to
prevent the foot from dropping down into plantar flexion.
Lambrinudi in 1927 described a method of triple arthro­
desis in which a wedge of bone is excised from the plantar
aspect of the head and neck of the talus and the distal sharp
margin of the body of the talus is inserted into a prepared
trough in the navicular. In this way the talus is locked in
equinus position at the ankle joint while the rest of the foot
is maintained in the desired degree of dorsiflexion.95 I do
not recommend the Lambrinudi operation because his
experience with it was unsatisfactory. For adequate correc-
tion of equinus deformity, too much bone must be resected
from the talus, with the subsequent development of avas-
cular necrosis of the talus, talonavicular pseudarthrosis, flat-
 CHAPTER 37  Poliomyelitis e229

Navicular Cuboid

Talus Calcaneus
Bone wedges resected
Talus

Calcaneus

D E
FIGURE 37-26  Wedges of bone to be removed for correction of a calcaneocavus deformity. A to C, Dorsal, lateral, and posterior views of
the deformity. Shaded areas indicate the amount of bone removed. D to F, Positions of the bones after correction of the deformity by
triple arthrodesis. Note the posterior displacement of the hindfoot.

tening of the superior surface of the talus, and painful

arthritis of the ankle.49,74,96,111,112,129
Extraarticular Subtalar Arthrodesis
At the suggestion of William T. Green, Grice developed a
method of fusion of the subtalar joint by insertion of
autogenous bone grafts in the sinus tarsi in the lateral aspect
of the foot for correction of paralytic pes valgus and restora-
tion of the height of the longitudinal arch.61,62 Any interfer-
ence with subsequent normal growth of the foot is minimal,
e230 SECTION VI  Neuromuscular Disorders
at most, because the procedure is extraarticular. The opera-
tive technique is described and illustrated in Plate 37-8.
Ankle Fusion and Pantalar Arthrodesis
When surgical reconstruction is considered for a flail foot
and ankle, the relationship of the foot and ankle with the
lower limb as a whole should be carefully assessed because
of the often associated paralysis of the muscles throughout
the lower limb. Various techniques have been described in
the literature.‡
Pantalar arthrodesis is surgical fusion of the joints around
the talus—the ankle, subtalar, and talonavicular joints. The
calcaneocuboid joint (which is not an articulation of the
talus) is also included in the stabilization, thus making
the procedure a combination of triple arthrodesis and ankle
fusion.
Lorthioir, as he originally reported the procedure in
1911, extirpated and replaced the talus as an autogenous
bone graft.105 In 1923 Steindler advised against temporary
removal of the talus from the wound because of the danger
of avascular necrosis; he also included the calcaneocuboid
joint in the fusion to provide stability and maintain the
correction.154
When the muscles below the knee are paralyzed, panta-
lar arthrodesis provides stability to the ankle and hindfoot,
thus eliminating the need for orthotic support, provided the
gluteus maximus is of adequate strength and the knee is
stable. Extensor strength of the knee is desirable but not
imperative. When the quadriceps muscle is paralyzed, sta-
bility of the knee joint is provided by shifting the center of
gravity of the body forward anterior to the plane of the knee
joint. To lock the knee in extension, the tibia should not be
allowed to come forward through a dorsiflexion movement
of the ankle, either by a strong triceps surae muscle or by
a fixed equinus ankle joint. A good gluteus maximus muscle
transmits push-off power to the ball of the foot when the
ankle is rigid and the knee is locked in extension.
Position of ankle fusion is an important consideration. In
arthrodesis of the ankle, excessive plantar flexion to stabi-
lize the knee in extension during the stance phase of gait or
to compensate for a short limb results in increased pressure
on the metatarsal heads. Calluses form, and eventually the
skin ulcerates. Consequently in later adult life pain in the
forefoot becomes a constant complaint. Unequal heel height
is another cause of dissatisfaction; frequently patients would
rather accept shortening and a full-sole buildup. It is imper-
ative that the position of ankle fusion be 5 to 10 degrees
equinus. Lateral radiographs of the foot and ankle should
be obtained at the time of surgery, and the position of sta-
bilization of the ankle should be accurately measured with
a goniometer.
Pronation or supination of the forefoot results in unequal
pressure on its sides and may also cause painful callus and
ulceration. When the forefoot is in supination, calluses
develop over the fifth metatarsal head, whereas in prona-
tion, they develop over the first and second metatarsal
heads. In excessive equinus inclination calluses develop over
the first and fifth metatarsal heads.
The plantar surface of the foot should be in the normal
weight-bearing position, with no pronation or supination or
‡
References 3, 10, 12, 24, 29, 56, 70, 82, 102, 129.
uneven pressure under the metatarsal heads. The lateral
border of the foot should be straight, with the heel in
neutral or a slightly valgus position and the ankle in less than
10 degrees of plantar flexion.
Waugh and associates reported the results of 116 panta-
lar arthrodeses performed in 97 patients after a mean
follow-up of 5 years and an average follow-up of 6.9 years.
In general, pantalar arthrodesis was found to be an effective
and satisfying procedure. Approximately 80% of the patients
had no complaints referable to their pantalar arthrodesis.
Because adequate compensatory motion developed in the
fore part of the foot, rigidity of the feet was not a problem
despite fusion of the ankle and hind part of the foot. Of
the 52 patients who had used an orthosis preoperatively, 47
were able to discard it after fusion. Pseudarthrosis occurred
in 14.7% of these cases.169
When the foot has normal alignment and adequate bony
and ligamentous stability, I recommend ankle fusion only
with the distraction-compression bone graft arthrodesis
described by Chuinard and Peterson (Plate 37-9).32 The
paralyzed limb has no compression forces to maintain
the tibia and talus in close apposition, and the weight of the
cast pressing on the dorsum of the foot may distract them.
Anterior or Posterior Bone Blocks to Limit
Motion at the Ankle
In pes calcaneus, construction of a bone buttress anteriorly
in the talus limits dorsiflexion of the ankle by impinging on
the anterior lip of the distal end of the tibia, whereas in
equinus deformity of the foot, plantar flexion of the ankle
may be restricted by bone block construction on the poste-
rior aspect of the talus.22,23,53,54 These procedures were
developed for use in cases of paralytic calcaneus or footdrop
in which no musculature is available for transfer to provide
plantar flexion or dorsiflexion power. Long-term follow-up
studies of bone block operations disclosed a high incidence
of recurrence of deformity and fibrous ankylosis or painful
degenerative arthritis of the ankle joint. I do not recom-
mend bone blocks to limit motion at the ankle because the
procedure has all the disadvantages of arthrodesis of the
ankle without providing the pain-free stability of the latter.
The only indication for posterior bone block is in a
female patient who desires to wear shoes with heels of
various height and who has “fair” strength of the triceps
surae muscle but no dorsiflexor power. After triple arthro­
desis, small subarticular grafts are placed posteriorly to lift
the articular surface of the posterior aspect of the talus and
limit plantar flexion. Massive bone grafts that abut the
posterior aspect of the tibia should not be used. The small
blocks placed beneath the articular surface of the talus are
just as effective, heal rapidly, can be performed in combina-
tion with triple arthrodesis, and are less likely to cause
pain.60
Management of the Trunk
The cause and treatment of pelvic obliquity are discussed
in the section on contracture of the iliotibial band (see
“Pelvic Obliquity,” earlier). Pelvic obliquity may also be
caused by unilateral paralysis of the quadratus lumborum
muscle. Paralysis of the abdominal muscles results in

exaggeration of the anterior pelvic tilt and an increase in
lumbar lordosis. Lowman described fascial transplants to
substitute for the paralyzed abdominal muscles. For indica-
tions and operative technique, the reader is referred to the
literature: Axer; Clark and Axer; Dickson; Lowman; Mayer;
and Williamson, Moe, and Basom.5,34,42,107-109,116,173
Management of paralytic spine deformity is discussed in
Chapter 12. As with deformity of other causes, paralytic
deformity in poliomyelitis responds best to combined ante-
rior and posterior fusion with stable instrumentation.103
Instrumentation without fusion has not been successful.95
Halo femoral traction has also not proved to be beneficial.119
The role of pelvic obliquity and scoliosis was well discussed
by Lee and associates.99
Management of the Shoulder
The shoulder joint is a multiaxial joint. On full abduction
of the shoulder, scapulothoracic motion contributes 60
degrees and glenohumeral motion contributes 120 degrees,
in a ratio of 1 : 2. When the arm is abducted to 90 degrees,
the arm should rotate externally to allow full abduction.
Full 180-degree forward flexion is permitted by internal
rotation of the arm. Extension of the shoulder joint is
limited to 80 degrees by the mechanical block of the acro-
mion process and the adjacent spine of the scapula. Normal
scapulohumeral rhythm is imperative for execution of
graceful motions and strength of the shoulder joint.138
Classification
Saha provided a functional classification of the muscles
acting at the shoulder joint.139,140
Prime Movers
The prime movers are the deltoid and clavicular head of the
pectoralis major. They provide the greatest amount of active
power in shoulder abduction and exert force in three direc-
tions. Their insertion is most distal from the shoulder joint,
at the juncture of the middle and upper thirds of the
humeral diaphysis.
Treatment by Muscle Transfer
When these prime movers are paralyzed, natural automatic
substitution of function with adjacent motors is not feasible.
Muscle transfer is required to restore active shoulder
abduction.
Steering Group
The steering group consists of the subscapularis, supraspi-
natus, and infraspinatus muscles. Their force is exerted
at the junction of the head-neck and shaft of the humerus,
and their primary function is to stabilize the humeral
head in the glenoid cavity by steering (i.e., by rolling and
gliding movement). Secondarily, they assist in shoulder
abduction.
The infraspinatus muscle acts primarily as a posterior
glider of the humeral head during the final stages of full
abduction. The supraspinatus and subscapularis muscles are
indispensable for shoulder abduction in that they steer the
head of the humerus during abduction in different planes
CHAPTER 37  Poliomyelitis e231
through an arc of 150 degrees. The scapula moves anteriorly
and posteriorly and rotates vertically through the extremes
of the arc (about 30 degrees on either side). In general,
vertical gliding of the humeral head is accomplished by the
muscle fibers acting in the plane of motion, whereas the
muscle fibers that are anterior and posterior to these act to
glide the humeral head in the horizontal plane at succeeding
stages of shoulder abduction.
Depressor Group
The depressor group consists of the sternal head of the
pectoralis major, the latissimus dorsi, and the teres major
and teres minor. (The teres minor is included in this group
because electromyographic evidence has shown that it par-
ticipates in this motion, although anatomically it is classified
as belonging to the short rotator group.) The function of
these muscles is to rotate the shaft of the humerus during
abduction and depress the humeral head, thereby assisting
in the last few degrees of full abduction. The steering action
that they exert on the humeral head is minimal, however.
Scapular rotation takes place through its body in an AP axis
and contributes approximately 60 degrees of total shoulder
abduction. Fixation of the scapula is equally important
during abduction provided by gravity and the lower fibers
of the serratus.
Treatment by Muscle and Tendon Transfer
When the deltoid and clavicular head of the pectoralis
major are paralyzed, it is important to determine the action
of the steering group of muscles when performing tendon
transfers to restore shoulder abduction. If the steering
group of muscles is paralyzed, transfer of a single muscle
(e.g., the trapezius) or several muscles to a common attach-
ment for restoration of function will give at best only 90
degrees of shoulder abduction, and scapulohumeral rhythm
will still be disturbed. According to Saha, if any two of the
steering group of muscles are paralyzed, appropriate tendon
transfers should be performed to restore their function.
This is as imperative as trapezius transfer for paralysis of
the deltoid. Table 37-3 gives Saha’s recommendations for
possible tendon transfers to restore power at the shoulder
joint.
The Saha trapezius transfer for paralysis of the deltoid
is illustrated in Figure 37-27. The upper and middle trape-
zius is completely mobilized from its insertion to provide
an additional 5 cm of length without disturbing the nerve
and blood supply to the muscle. The detached portion of
the trapezius with the distal end of the clavicle, the capsule
of the acromioclavicular joint, the acromion process, and
the adjoining portion of the posterior border of the spine of
the scapula are rerouted and attached by two screws to the
humeral shaft as far distally as possible. The acromion is
crushed to aid coaptation with the curve of the shaft of the
humerus.
Transfer of the upper two digitations of the serratus
anterior for paralysis of the subscapularis is shown in Figure
37-28. Levator scapulae transfer for paralysis of the supra-
spinatus is shown in Figure 37-29, pectoralis minor transfer
for paralysis of the subscapularis in Figure 37-30, sterno-
cleidomastoid transfer for paralysis of the supraspinatus in
Figure 37-31, and either latissimus dorsi or teres major
transfer, or both, for paralysis of the subscapularis in Figure
e232 SECTION VI  Neuromuscular Disorders
Table 37-3  Possible Tendon Transfer to Restore Power at the Shoulder Joint
Muscle Requiring Replacement
or Reinforcement Action
Deltoid and clavicular head of Prime mover (abduction)
the pectoralis major
Supraspinatus Superior glider
Infraspinatus Posterior glider (acting
from behind)
Subscapularis Posterior glider
Modified from Saha AK: Surgery of the paralyzed and flail shoulder, Acta Orthop Scand Suppl 97:40, 1967.
A B
FIGURE 37-27  Trapezius muscle transfer (Saha technique) for paralysis of the deltoid muscle. A, Insertion of trapezius elevated.
B, Implantation of the trapezius into the humerus.
37-32. For technical details the reader is referred to Saha’s
original article.140
Arthrodesis of the Shoulder
Arthrodesis of the shoulder is indicated for paralytic sub-
luxation or dislocation of the shoulder and extensive paraly-
sis of the scapulohumeral muscles. Because scapulothoracic
motion serves as a substitute for glenohumeral joint motion,
it is important that the motor strength of the trapezius and
serratus anterior be normal. The direct action of the scapula
moves the arm. Normal function of the hand, however, is
a primary requisite. It is best to delay shoulder arthrodesis
until after epiphyseal closure has taken place.
The optimum position for shoulder fusion, as recom-
mended by the Research Committee of the American
Choices of Muscles for Transfer
(in Order of Preference)
1. Trapezius (as far down as possible on the shaft)
1. Levator scapulae (first choice because of the
direction and length of its fibers)
2. Sternocleidomastoid
3. Scalenus anterior
4. Scalenus medius
5. Scalenus capitis
(All act from above and are good substitutes)
1. Latissimus dorsi
2. Teres major
1. Upper two digitations of the serratus anterior
2. Pectoralis minor
3. Pectoralis major (whole or part)
(These muscles act in almost the same direction as
fibers of the subscapularis)
Orthopedic Association, is 50 degrees of abduction, 20
degrees of flexion, and 25 degrees of internal rotation. This
position is functional in that it allows the patient to reach
the face and top of the head with the elbow flexed.9
It is wise, however, to consider the sex and occupation
of the patient and the regional muscle power and functional
status of the opposite limb. In general, office workers
require more abduction than do laborers. In female patients,
the degree of abduction should be less because this permits
the scapula a better resting position in relation to the trunk.
For cosmetic reasons, female patients strongly object to
winging of the scapula. The lesser degree of abduction is
functionally compensated for by fusing it in greater internal
rotation. The most acceptable position of shoulder arthro­
desis in female patients is 30 degrees of glenohumeral
abduction, 5 to 10 degrees of flexion, and 45 degrees of
 CHAPTER 37  Poliomyelitis e233

B
A
FIGURE 37-28  Transfer of the upper two digitations of the serratus anterior for paralysis of the subscapularis muscle. A, Separation of the
upper two slips of the serratus anterior. B, The slips are sewn into the rotator cuff.

A B
FIGURE 37-29  Levator scapulae transfer for paralysis of the supraspinatus. A, Primary insertion site. B, Alternative insertion site.

FIGURE 37-30  Pectoralis minor transfer for paralysis

of the subscapularis. A, Release of the pectoralis
A B minor from the coracoid. B, Insertion of the
pectoralis minor into the humerus.
e234 SECTION VI  Neuromuscular Disorders
A B
FIGURE 37-31  Sternocleidomastoid transfer for paralysis of the supraspinatus muscle. A, Release of the sternomastoid from its insertion.
B, Rerouting of the sternomastoid. C, Insertion of the sternomastoid into the rotator cuff.
FIGURE 37-32  Latissimus dorsi or teres major transfer for paralysis
of the subscapularis muscle.
internal rotation. The shoulder should never be fused in
external rotation because the limb will be positioned in an
awkward and functionally poor position. It should be
explained to the patient that after surgery, extension and
rotation of the shoulder will be limited and the patient will
have difficulty lying on the side of the arthrodesis to sleep.
Fusion of both shoulders should never be performed because
of the loss in range of motion. Arthrodesis of the shoulder
increases the power of both flexion and extension of the
elbow and provides adduction power to the shoulder,
thereby enabling the patient to grip an object between the
arm and the body.
For technical details of shoulder fusion, the reader is
referred to the original descriptions in the literature.§ It
should be emphasized, however, that the position of fusion
should be calculated according to the angle between the
humerus and scapula rather than that of the arms and
thorax. Internal fixation is imperative; otherwise, the angle
will be changed in the shoulder spica cast.
§
References 9, 10, 15, 17, 19, 29-31, 52, 91, 168.
C
Management of the Elbow
Paralysis of the Biceps Brachii and Brachialis
Muscles
Loss of elbow flexion results from paralysis of the biceps
brachii and the brachialis muscles. The resultant functional
deficit is considerable because the patient is unable to bring
the hand to the head, mouth, or trunk.
Numerous operative procedures have been devised to
restore elbow flexion, including (1) Steindler flexorplasty,151
(2) transfer of the distal third of the pectoralis major muscle
(Clark33), (3) transfer of the pectoralis major tendon
(Brooks and Seddon18), (4) transfer of the pectoralis minor
muscle (Spira149), (5) transfer of the sternocleidomastoid
muscle (Bunnell20), (6) anterior transfer of the triceps
brachii tendon to the biceps insertion on the radial tuberos-
ity (Bunnell20 and Carroll26), and (7) transfer of the latis-
simus dorsi (Hovnanian81).
Before a specific procedure is selected, it is imperative
to assess the motor strength of the muscles of the entire
upper limb and the functional status of the opposite limb
carefully. With paralysis of the elbow flexors, there is often
a varying degree of paresis of the muscles of the scapulo-
humeral joint, forearm, and hand.
Function of the hand is of primary concern. Restoration
of elbow flexion is only one step in total functional recon-
struction of the upper limb, and procedures on the hand
should precede those on the elbow. In the absence of a
functional hand, flexorplasty of the elbow should not be
performed.
Steindler Flexorplasty
Techniques
Steindler in 1918 described a procedure in which the
humeral origins of the flexor carpi radialis, the palmaris
longus, the pronator teres, the flexor digitorum sublimis,
and the flexor carpi ulnaris were transferred to a more
proximal site on the humerus, thereby changing the leverage
of these muscles across the elbow joint and enhancing their
flexor action at the elbow.151 Later he reviewed the results
of flexorplasties of the elbow and pointed out that the dis-

Humerus
Pronator teres
muscle
Ulna
Flexor carpi
ulnaris muscle
Flexor digitorum
Pullout wire sublimis muscle
FIGURE 37-33  The Bunnell modification of Steindler flexorplasty
of the elbow. The common flexor muscles are elongated by a
fascial graft.
advantage of this transfer was an increase in the pronating
action of these muscles on the forearm.154,156,157,159
Bunnell modified the Steindler flexorplasty by attaching
the transferred muscles to the lateral border of the humerus
to decrease their tendency to cause pronation. To reach the
lateral border of the humerus, the common flexor muscles
had to be elongated with a fascial graft (Fig. 37-33).20 This
method of fascial lengthening is technically difficult if one
is to obtain secure fixation and maximum strength of the
flexorplasty. Mayer and Green attached the transferred
muscles to the anterior surface of the humerus through
holes drilled in bone.118 This direct fixation to bone ensured
firm healing of the transferred muscle. The operative tech-
nique of Steindler flexorplasty as modified by Mayer and
Green is described and illustrated in Plate 37-10.
Results
Carroll and Gartland reported the results of Steindler
flexorplasty in 27 patients.27 Kettelkamp and Larson evalu-
ated the results of Steindler flexorplasty in 15 patients and
determined the maximum strength of the flexorplasty
through a useful range of flexion. Nine of the 15 patients
were able to lift a weight of 1 pound or more to 110 degrees
of flexion. On correlating the strength of the flexorplasty
with the degree of flexion contracture of the elbow, these
authors found the average strength of the flexorplasty to be
2 pounds to 110 degrees of flexion when the degree of
flexion contracture was between 30 and 60 degrees. The
mechanical advantage and strength of the transfer were
increased in the presence of flexion contracture of the
elbow.89 When patients have marked paralysis of the oppo-
site limb, the strength restored by flexorplasty is a greater
consideration than is the cosmetic appearance.
Mayer and Green, however, emphasized the importance
of the appearance of the arm and preferred that the flexion
position of the elbow not exceed 15 degrees. They
CHAPTER 37  Poliomyelitis e235
recommended that a turnbuckle extension orthosis be worn
at night to prevent the development of flexion contracture
of the elbow. As soon as the strength of the transfer is “fair”
or “fair plus,” a night splint is used and passive stretching
exercises of the elbow flexors are performed.118
The motor strength of the triceps is another important
factor in the development of flexion contracture of the
elbow because this contracture represents the residuum of
flexorplasty and the end result of dynamic imbalance
between elbow flexors and extensors over the years. A
flexion deformity of the elbow greater than 30 degrees
usually develops when the triceps brachii is less than “fair”
in motor strength. In the presence of a weakened triceps
brachii, the period of postoperative immobilization should
be short, and active assisted exercises should be started on
the fifth to seventh postoperative day, with precautions
taken to prevent the transfer from being stretched away
from the bone. There should be an extensive period of
postoperative splinting at night with the elbow in
extension.
Complications and Disadvantages
Loss of supination is an inherent complication of the
Steindler flexorplasty. Attachment of the transferred
muscles as far laterally on the humerus as possible mini-
mizes the severity of pronation contracture; however, even
with this precaution a varying degree of pronation defor-
mity of the forearm results in a dynamic imbalance between
a strong pronator teres and a paralyzed biceps brachii—its
chief supinator opponent. The strength of the flexorplasty
is not influenced by the degree of pronation contracture;
however, it does impair the position of the hand and impedes
its functional use. If the motor strength of the supinators
of the forearm is poor, flexor carpi ulnaris transfer to the
dorsum of the radius is performed to enhance supinator
function and prevent the development of pronation con-
tracture of the forearm.
In poliomyelitis, paralysis of the elbow without paralysis
of the muscles that control the scapulohumeral joint is
rarely seen. A flail shoulder greatly impedes the effective-
ness of the flexorplasty. In the abducted position of the
shoulder, the force of gravity assists elbow flexion, and the
amount of strength required to flex the elbow is decreased.
Arthrodesis of the shoulder markedly improves the results
of flexorplasty.
Overestimation of the motor strength of the common
flexor muscle group is a frequent pitfall that accounts for
poor results in some patients. For the transfer to function
effectively, these muscles must rate at least “good” in motor
strength. If they are weaker, other reconstructive methods
must be used. The flexor digitorum sublimis may be strong
and the flexor carpi ulnaris and carpi radialis weak. In such
an instance, after Steindler flexorplasty, flexion of the elbow
is accomplished only by clenching the fingers, and any relax-
ation of the grip allows the elbow to extend. This interferes
with function of the hand, which is the primary interest of
the patient.
e236 SECTION VI  Neuromuscular Disorders
Pectoralis Major Muscle Transfer
Techniques and Results
A portion of the pectoralis major transfer was used by Clark
to restore active elbow flexion.33 The nerve supply of the
distal third of the pectoralis major muscle (from branches
of the medial thoracic nerve) is separate from that of its
proximal part. This inferior strip of the pectoralis major
muscle, which is 5 to 7 cm in width, is freed from the chest
wall and mobilized toward the axilla as far as its nerve and
blood supply will allow. The muscle is then passed subcu-
taneously down the arm and sutured to the biceps tendon.
The reader is referred to Clark’s original description for the
specific technical details.33 The Clark operation is particu-
larly indicated in patients with traction injury of the upper
trunk of the brachial plexus, in whom the clavicular head
of the pectoralis major is paralyzed but the sternal head is
normal in motor strength. Seddon in 1949 reported satisfac-
tory results in 15 of 16 pectoralis major transfers performed
by the Clark method.145 In a 1959 report by Segal and
associates, the results of the Clark operation in 17 patients
were graded “excellent” or “good” in 47% and “fair” or
“failed” in 53%.146
Brooks and Seddon devised a technique in which the
entire pectoralis major muscle is transferred to restore
elbow flexion.18 The gap between the distal end of the
pectoralis major tendon and the tuberosity of the radius is
bridged by the long head of the biceps, which is detached
from its origin and completely mobilized. Reducing the
blood supply of the biceps brachii induced conversion of
the muscle into tendon. The procedure was recommended
by Brooks and Seddon in patients in whom either the lower
part of the pectoralis major is paralyzed (or too weak for
the Clark transfer) but the clavicular head is strong, or the
entire muscle is of such weakness that it is desirable to use
all the active muscle. These surgeons reported the results
as “excellent” or “good” in six, “fair” in two, and “failed” in
two (one patient had arthrogryposis multiplex congenita
and the other had poliomyelitis).
The operative technique of the Brooks-Seddon proce-
dure is described and illustrated in Plate 37-11. I recom-
mend its use when the Steindler flexorplasty is not
applicable; of course, it should be used only when the biceps
brachii is completely and permanently paralyzed. The pro-
cedure does restore some degree of active supination of the
forearm and rarely limits passive extension of the elbow.
Disadvantages
One disadvantage of the pectoralis major transfer is that in
the presence of weak scapulohumeral muscles, active flexion
of the elbow is often accompanied by shrugging, adduction,
and internal rotation of the shoulder. These undesirable
motions, with the hand hitting the chest wall, seriously
impair the result of the operation. If there is appreciable
paralysis of the shoulder muscle, the pectoralis major trans-
fer must be followed by arthrodesis of the scapulohumeral
joint.
Pectoralis Minor Muscle Transfer
Spira in 1957 reported successful use of the pectoralis
minor as a motor to restore elbow flexion. The patient had
complete paralysis of the pectoralis major, biceps brachii,
and brachialis muscles. A tube of fascia lata was used to
bridge the gap between the detached origin of the pectoralis
minor and the paralyzed biceps tendon.149
Sternocleidomastoid Muscle Transfer
Bunnell used the sternocleidomastoid muscle as a motor to
restore active elbow flexion.20 The sternoclavicular insertion
of the sternocleidomastoid muscle is detached and the
distal half of the muscle is mobilized by gentle blunt dis-
section. A long tube of fascia lata is used to bridge the gap.
The tube extends from the distal end of the sternocleido-
mastoid muscle and then passes forward subcutaneously in
the arm to the elbow, where the graft is attached to the
tuberosity of the radius (Fig. 37-34).
Carroll reported the results of 15 cases of sternocleido-
mastoid transfer, with a satisfactory outcome in 80%. He
stressed the importance of placing the transferred muscle
under maximal tension at the time of surgery.25
In my experience with seven patients, the strength of
elbow flexion after the Bunnell sternocleidomastoid transfer
is excellent; however, the aesthetic appearance of the pro-
cedure is grotesque and objectionable, particularly in female
patients. This procedure should be used when it is the only
method available, but it must be limited to male patients,
in whom function is the primary consideration and the
resultant deformity can be hidden by the buttoned collar of
a shirt.
Anterior Transfer of the Triceps Brachii Tendon
Anterior transfer of the triceps brachii tendon was described
by Bunnell in 1948 and in 1951 and later by Carroll, who
showed the feasibility and effectiveness of the procedure
without the use of the fascial graft that was recommended
by Bunnell.20,28
Another indication to perform anterior transfer of the
triceps is brachial plexus injuries, in which simultaneous
contraction of the triceps (the antagonistic muscle) occurs
on active flexion of the elbow and the action of the pecto-
ralis major transfer is impaired. This simultaneous flexion-
extension mass action can be successfully overcome by
anterior transfer of the triceps into the flexor apparatus.
Techniques
The operative technique described by Carroll is as follows.
The patient is placed in the lateral position. A midline
incision is made on the posterior aspect of the arm, begin-
ning in its middle half and extending distally to a point
lateral to the olecranon process; the incision is then carried
over the subcutaneous surface of the shaft of the ulna for
a distance of 5  cm. The subcutaneous tissue is divided and
the wound flaps are mobilized. The ulnar nerve is identified
and mobilized medially to protect it from injury. The inter-
muscular septum is exposed laterally. The triceps tendon
is detached from its insertion with a long tail of periosteum.
The triceps muscle is then freed and mobilized proximally
as far as its nerve supply permits. The motor branches of
the radial nerve to the triceps enter the muscle in the
interval between the lateral and medial heads as the radial
nerve enters the musculospiral groove. The distal portion
of the detached triceps is then sutured to itself to form
a tube. Through a curvilinear incision in the antecubital
fossa, the interval between the brachioradialis and the
 CHAPTER 37  Poliomyelitis e237

A B

C D
FIGURE 37-34  The Bunnell sternocleidomastoid transfer to restore active flexion of the elbow. A, Drawing showing the
sternocleidomastoid muscle transfer. B, Preoperative photograph of the patient with a flail shoulder and elbow and partially paralyzed
hand. The shoulder was fused, the sternocleidomastoid muscle was transferred, and arthrodesis of the wrist was performed in the
functional position. C and D, Postoperative photographs showing the result. Function of the useless right upper limb was greatly
improved. (From Bunnell S: Restoring flexion to the paralytic elbow, J Bone Joint Surg Am 33:569, 1951.)

pronator teres is developed. With an Ober tendon passer,
the triceps tendon is passed into the anterior wound sub-
cutaneously, superficial to the radial nerve. With the elbow
in 90 degrees of flexion and the forearm in full supination,
the triceps tendon is either sutured to the biceps tendon
or anchored to the radial tuberosity by a suture passed
through a drill hole (Fig. 37-35). The wound is closed in
routine fashion. An above-elbow cast is applied with the
elbow in 90 degrees of flexion and full supination for 4
weeks, at which time immobilization is discontinued and
active exercises are begun. Gravity provides extension to
the elbow.28
Results and Disadvantages
In 1970 Carroll and Hill reported the results of triceps
transfer in 15 patients (8 with arthrogryposis multiplex
congenita and 7 with posttraumatic and paralytic loss of
elbow flexion). The criteria of success were a preoperative
inability to flex the elbow against gravity and bring the hand
to the mouth and a postoperative ability to do so. Carroll
and Hill’s results were as follows: the posttraumatic and
paralytic group had 5 successes, 1 limited result, and 1
failure; the arthrogrypotic group had 5 successes, 1 limited
result, and 2 failures.28
Loss of active extension against gravity is a definite dis-
advantage of anterior transfer of the triceps. The operation
e238 SECTION VI  Neuromuscular Disorders
Triceps muscle,
long head
Triceps muscle,
lateral head
Radial nerve
Triceps muscle,
medial head
A B
FIGURE 37-35  The Carroll modification of Bunnell anterior transfer of the triceps for paralysis of the biceps. A, The motor branches of the
radial nerve are given off in the area between the medial and lateral heads of the triceps muscle. B, The long curvilinear incision avoids
pressure points on the elbow and gives adequate exposure. C, Only a small incision is necessary to expose the ulnar aspect. D, The
tendon of the mobilized triceps brachii is woven through the biceps tendon with the elbow in flexion. It may be anchored directly to
the radial tuberosity.
should be restricted to exceptional cases in which restora-
tion of elbow flexion is imperative and no other tendon
transfer is possible.
Latissimus Dorsi Transfer
Hovnanian described a method of transfer of the origin and
belly of the latissimus dorsi muscle into the arm.81 This is
feasible because the nerve supply of the latissimus dorsi (the
thoracodorsal nerve) is a long nerve (12 to 17 cm in length)
and is highly mobile and easily identified. In addition, the
blood supply of the latissimus dorsi muscle enters from a
wide zone in its proximal third. Thus the latissimus dorsi
can be mobilized without denervating or devascularizing the
muscle. Active elbow flexion is restored by anchoring the
origin of the latissimus dorsi muscle into the biceps tendon
near the radial tuberosity; active extension of the elbow is
obtained by suturing it to the olecranon (Fig. 37-36).
Paralysis of the Triceps Brachii Muscle
Loss of active extension of the elbow as a result of paralysis
of the triceps muscle seldom causes significant disability
because the elbow extends passively under the force of
gravity. A strong triceps is not essential for crutch walking,
provided good shoulder depressors are present. A triceps
strap or band is added to the crutch, and with the elbow
C D
locked in slight hyperextension, the patient can ambulate
well. If the patient has marked paralysis of both lower limbs
and trunk, however, a functional triceps is desirable to lock
the elbow in extension for daily activities such as arising
from a bed or chair or reaching for objects overhead.
Various operative procedures have been devised to
restore active extension of the elbow. Trapezius muscle
transfer was used in 1930 by Lange, who detached the
muscle from the acromion and joined it by long silk sutures
to the olecranon.97 Ober and Barr described a technique for
transferring the brachioradialis muscle by rerouting it at the
elbow to a more posterior position.128 The extensor carpi
radialis longus muscle was added to the brachioradialis
muscle transfer if greater strength was necessary. Transfer
of flexor carpi radialis and ulnaris muscles was proposed by
Hohmann.77,78 Friedenberg transferred the biceps brachii
for triceps paralysis.51 The posterior part of the deltoid was
proposed by d’Aubigné.41 The latissimus dorsi was used for
transfer to restore elbow extension by Hohmann,77,78
Lange,97 Harmon,71 Schottstaedt and associates,142 Hovna-
nian,81 and du Toit and Levy.43
The relative merits and shortcomings of the various
procedures are not discussed here because I have had no
personal experience with them. The Hovnanian transfer of
the origin of the latissimus dorsi to the olecranon, with its
insertion left intact, is recommended because the procedure
 CHAPTER 37  Poliomyelitis e239

Teres major muscle

Thoracodorsal artery

Subscapularis muscle
Thoracodorsal nerve

Latissimus dorsi muscle

Latissimus dorsi muscle

C
FIGURE 37-36  Latissimus dorsi transfer to restore flexion or extension at the elbow (Hovnanian operation). A, Anatomy of the axilla and
the latissimus dorsi muscle. B, Skin incision used to restore elbow flexion. The lumbar extension of the skin incision is shown by dotted
lines. C, Line of section of the latissimus dorsi muscle across its musculofascial portion inferiorly and its muscle fibers superiorly.
Continued
e240 SECTION VI  Neuromuscular Disorders

Transplanted latissimus is physiologically sound and has been successful in my

dorsi muscle experience.

Management of the Forearm

Fixed supination and pronation contractures of the forearm
are deformities in flaccid paralysis that require surgical
Thoracodorsal artery treatment.
Thoracodorsal nerve Supination contracture of the forearm is rare but dis-
abling. It results from selective paralysis of the four muscles
that originate from the medial epicondyle of the humerus
(the pronator teres, flexor carpi ulnaris, palmaris longus, and
D flexor carpi radialis) in the presence of a strong biceps
brachii muscle. Contracture of the interosseous membrane
soon develops. With growth and under the influence of
unopposed action of the biceps brachii muscle, osseous
changes take place that cause the radius to become curved
and spiral around the ulna. If the deformity remains uncor-
rected and muscle imbalance remains, a progressive fixed
deformity will develop, with permanent shortening of the
soft tissues, primarily the interosseous membrane, biceps
brachii, and supinator muscles. The radius becomes mark-
edly bowed and the radioulnar joints may subluxate. In
children younger than 12 years, closed osteoclasis of the
middle third of both bones of the forearm was recom-
mended by Blount.13 Because of recurrence of deformity,
which can occur with further growth, he advised overcor-
E rection. In two of the nine reported cases, osteoclasis
was later repeated because of recurrence of supination
contracture.
Zaoussis corrected the fixed supination deformity by
open osteotomy near the tuberosity of the radius.176 He
found more or less permanent “blocking” of forearm rota-
tion after surgery, but the synostosis of the proximal end of
the radius and ulna did not seem to impair the functional
result. Because internal fixation was not used by Zaoussis,
angulation, displacement, and delayed union of the oste-
otomy occurred; however, these complications did not
affect cosmetic and functional results.
Transfer of the biceps brachii to the side of the radial
tuberosity opposite its normal insertion was mentioned
Thoracodorsal by Schottstaedt and associates in 1958.142 A year later
nerve Grilli described the operative technique of rerouting the
Latissimus dorsi biceps tendon insertion to the radial side of the neck of the
muscle radius to convert its function from a supinator to that of
pronator.63
Zancolli included surgical release of the contracted
soft tissues in biceps transfer, especially the interosseous
Thoracodorsal membrane.175 He reported satisfactory results in 14 patients
artery with supination contracture of the forearm (8 patients
had obstetric brachial plexus paralysis, 4 had poliomyelitis,
and 2 had traumatic quadriplegia). Correction was main-
F tained in all 14 patients. Active pronation (measuring 10
FIGURE 37-36, cont’d  D, To restore elbow flexion, the belly and to 60 degrees and using the transferred biceps brachii
origin of the latissimus dorsi are transferred to the anteromedial muscle) was achieved in 8 patients. Active supination
aspect of the arm, and the origin is anchored in the biceps (measuring 20 to 80 degrees) was retained in 8 patients.
tendon near the radial tuberosity. E, Skin incision used to restore The procedure permits a more normal anatomic relation-
elbow extension. F, The latissimus dorsi muscle is transferred to ship of the radius and ulna to develop and results in a nearly
the posterior aspect of the arm and anchored to the olecranon normal shape of the forearm. For details of the operative
and triceps tendon.
technique, the reader is referred to the original paper of
Zancolli.175

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Riedel G: Zur Frage der Muskeltransplantation bei Deltoides Lahmung,
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CHAPTER 37  Poliomyelitis e247
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e248 SECTION VI  Neuromuscular Disorders

Plate 37-1  Fractional Lengthening of the Hamstrings

Operative Technique
A, The patient is positioned prone with a pneumatic tour-
niquet placed high on the proximal part of the thigh. A 3- to
4-in-long midline incision is made, starting just proximal to
the popliteal crease. The subcutaneous tissue is divided and
the incision carried to the deep fascia. The posterior femoral
cutaneous nerve will be in the proximal aspect of the wound
and should not be damaged.
B, The deep fascia is incised and the hamstring tendons are
identified by blunt dissection. It is imperative to divide the
tendon sheath of each hamstring tendon separately and Incision
mark it with 000 silk sutures for meticulous closure later.
C, In the lateral compartment of the wound, the biceps
femoris tendon is exposed. It should be gently dissected
away from the common peroneal nerve, which lies on its
posteromedial surface. A blunt instrument, such as a staph-
ylorrhaphy probe or a joker, is passed deep to the biceps
tendon.

Semitendinosus
muscle
Tendon sheath
tagged with sutures

Biceps femoris
muscle

Line of Semimembranosus
division of muscle
deep fascia Common peroneal
nerve

Tibial nerve
and vessels

B C
 CHAPTER 37  Poliomyelitis e249

Tendinous fibers of biceps femoris muscle D, With a sharp knife, the tendinous portion of the biceps
lengthened by passive straight-leg raising femoris is incised transversely at two levels 3 cm apart and
the muscle fibers are left intact. The tendon is lengthened
in continuity by straight-leg raising with the knee in
extension.
E, The semimembranosus tendon is then isolated in the
uscle
medial compartment of the wound. The tendinous portion
lies on its deep surface; to expose it the muscle is everted.
s
The tendinous fibers are divided at two levels (similar
to the biceps tendon), with the muscle fibers left in
scle continuity. Again, by extending the knee and flexing
the hip, a sliding lengthening of the semimembranosus is
performed.
F, Next the semitendinosus is exposed. The tendinous
portion is divided proximal to the musculotendinous
s muscle junction.
nerve

Forceps everting semimembranosu smuscle to Dividing tendinous portion of semitendinosus muscle

expose tendinous portion. Division at two levels. proximal to musculotendinous junction

Incision of distal
tendinous portion of
semitendinosus muscle

E F

Continued on following page

e250 SECTION VI  Neuromuscular Disorders

Plate 37-1  Fractional Lengthening of the Hamstrings, cont’d

Separate meticulous closure of each tendon sheath. Deep

fascia is not sutured.

Z-plasty alternative

G H

G, If the semitendinosus tendon ruptures inadvertently,
Z-plasty is performed.
H, The tendon sheath of each tendon is meticulously
closed. The deep fascia is not sutured. The subcutaneous
tissue and skin are closed in routine manner, and bilateral
long-leg casts are applied with the knees in full
extension.
Postoperative Care
While the patient is in the solid cast, straight-leg-raising
exercises are performed 15 times, once a day, for further
stretching of the hamstrings. At the end of 3 to 4 weeks
the casts are removed and new above-knee bivalved casts
are made. Active and passive exercises are performed to
develop knee flexion, first with the patient side lying with
gravity eliminated and then against gravity. The motor
strength of the quadriceps is developed. Whenever func-
tional range of motion of the knees is present, the patient
is allowed to be ambulatory with appropriate support.
 CHAPTER 37  Poliomyelitis e251

Plate 37-2  Iliopsoas Muscle Transfer for Paralysis of the Hip Abductors

Deep incision in cartilaginous

apophysis
Anterior superior iliac spine
Anterior superior Gluteus medius muscle
iliac spine
Tensor fasciae
latae muscle

Skin incision Iliopsoas muscle

Femoral nerve,
Fascia lata artery, and vein
Fat
Capsule of
hip joint

Lateral femoral
Rectus femoris muscle circumflex artery
and vein
Sartorius muscle

A B

Operative Technique by sharp dissection and protected by retracting it medially

with moist hernia tape. The wound flaps are undermined
The patient is positioned supine with a small sandbag
and retracted. The anterior medial margin of the tensor
under the sacrum and a larger sandbag under the ipsilateral
fasciae latae muscle is identified, and by blunt dissection,
scapula. The entire involved lower limb, the hip, the lower
the groove between the sartorius and rectus femoris
part of the abdomen and chest, and the iliac and sacral
muscles medially and the tensor fasciae latae muscle later-
regions are prepared in sterile fashion and draped so that
ally is opened. The dissection is carried deep through the
the limb that is to be operated on can be freely manipu-
loose areolar tissue that separates these structures, and
lated and the incision extended to the posterior third of
the adipose tissue that covers the front of the capsule of
the iliac crest without contamination.
the hip joint is exposed. The ascending branch of the
A, The skin incision extends forward from the junction of
lateral femoral circumflex artery and the accompanying
the posterior and middle thirds of the iliac crest to the
vein cross the midportion of the wound; they are isolated,
anterior superior iliac spine; it is then carried distally into
clamped, cut, and ligated.
the thigh along the medial border of the sartorius muscle
The origin of the sartorius muscle from the anterior
for a distance of 10 to 12 cm and ends 2 cm distal to the
superior iliac spine is detached and the muscle is reflected
lesser trochanter.
distally and medially. The free end is marked with a silk
B, The deep fascia is incised over the iliac crest, and the
whip suture for later reattachment. The origins of the two
fascia lata is opened in line with the skin incision.
heads of the rectus femoris are divided and reflected dis-
The lateral femoral cutaneous nerve is identified; it
tally. The femoral nerve and its branches to the sartorius
usually crosses the sartorius muscle 2.5 cm distal to the
and rectus femoris are identified. Moist hernia tape is
anterior superior iliac spine and lies in close proximity to
passed around the femoral nerve for gentle handling. The
the lateral border of the sartorius. The nerve is mobilized
femoral vessels and nerve are retracted medially.

Continued on following page

e252 SECTION VI  Neuromuscular Disorders

Plate 37-2  Iliopsoas Muscle Transfer for Paralysis of the Hip Abductors, cont’d

Periosteal
Gluteus medius elevator
muscle

Incision in
iliac apophysis
Iliacus muscle

Tensor fasciae
latae muscle
Level of dissection Psoas major and
minor muscles

Greater Iliopsoas muscle

trochanter

Lesser trochanter

C D

C, The cartilaginous apophysis of the ilium is split and the
dissection is deepened along the iliac crest down to bone.
With a broad periosteal elevator the tensor fasciae latae and
the gluteus medius and minimus muscles are stripped sub-
periosteally from the lateral surface of the ilium and
reflected in one continuous mass laterally and distally to the
superior margin of the acetabulum. Bleeding is controlled
by packing the interval between the reflected muscles and
ilium with laparotomy pads.
D, Then, with a large periosteal elevator, the iliacus muscle
is subperiosteally elevated and reflected medially to expose
the inner wall of the wing of the ilium from the greater
sciatic notch to the anterior superior iliac spine.
By careful blunt dissection with a periosteal elevator, the
iliacus muscle is freed, elevated, and mobilized from the
inner wall of the ilium and the anterior capsule of the hip
joint. It is important to stay lateral and deep to the iliacus
muscle and work in a proximal-to-distal direction.
 CHAPTER 37  Poliomyelitis e253

Hip flexed, abducted, and externally rotated Level of thigh at lesser trochanter viewed from below
Rectus femoris muscle
Nerves to iliacus muscle Iliacus muscle Sartorius muscle
Osteotome
Femoral vessels and nerve
Femoral nerve Pectineus muscle
Adductor longus muscle

Tensor fasciae Adductor

latae muscle brevis muscle
Vastus
Osteotome lateralis Adductor
muscle minimus muscle
Iliopsoas
attachment Obturator
Femur externus muscle
Lesser
trochanter Ischium

Quadratus
Lesser trochanter femoris muscle
osteotomized
F Gluteus maximus muscle

CAUTION: Do not injure sciatic nerve

E

CAUTION: Do not stretch nerve supply to iliacus muscle

Capsule of hip

Lateral and deep Femoral nerve

Periosteal elevation of iliacus muscle
elevator
Iliopsoas tendon
and lesser
trochanter delivered
proximally

Iliopsoas muscle

Iliopsoas tendon freed Lesser trochanter

from linea aspera removed

G
H

E to G, Next the hip is flexed, abducted, and laterally
rotated, and with the index finger the lesser trochanter is
cleared of soft tissues proximally, posteriorly, and distally.
The index finger is then placed on the posteromedial aspect
of the lesser trochanter and is used to direct a curved osteo-
tome to the superior and deep aspect of the base of the
lesser trochanter.
The lesser trochanter is osteotomized and the distal
insertion of the iliacus muscle on the linea aspera of the
femur is freed with a periosteal elevator.
H, The iliacus and psoas muscles are reflected proximally
by sharp and dull dissection. It is essential to avoid injuring
the nerve to the iliacus, which at times enters the muscle
belly distally; in addition, the femoral nerve should not be
damaged. We find the use of a nerve stimulator of great
help. Circumflex vessels are clamped, cut, and ligated as
necessary.

Continued on following page

e254 SECTION VI  Neuromuscular Disorders

Plate 37-2  Iliopsoas Muscle Transfer for Paralysis of the Hip Abductors, cont’d

Window cut into

wing of ilium

Window in ilium

CAUTION: Do not enter

sacroiliac joint or fracture
innominate bone

Skin incision

I Posterior view J

CAUTION: Do not injure

greater trochanter
epiphyseal plate

I, In the middle third of the wing of the ilium a rectangular
hole, usually 1 to 2 in, is cut with drill holes and osteotomes.
The hole should be large enough to accommodate the trans-
ferred muscle. It should be located as far posteriorly as
possible to allow a more direct line of muscle action. The
limiting factor is the nerve supply to the iliacus, which
should not be stretched.
J, With the hip in extension and medial rotation, the greater
trochanter is exposed via a longitudinal lateral incision. The
vastus lateralis muscle is split and the lateral surface of the
proximal 4 to 5 cm of femoral shaft is subperiosteally
exposed.
K, It is important to avoid damaging the apophyseal growth
plate of the greater trochanter.
 CHAPTER 37  Poliomyelitis e255

Iliopsoas muscle with

lesser trochanter pulled
through window in ilium

Ober tendon Ober tendon Split in gluteus

passer passer medius muscle
Tensor fasciae Vastus lateralis
latae muscle muscle
Gluteus medius and
gluteus minimus
muscles with periosteal
flap retracted Greater
trochanter Line of incision
in periosteum
Split in gluteus Fascia lata
medius muscle Vastus lateralis
muscle split
L

M
Split in gluteus
medius muscle above
greater trochanter
Split in gluteus
medius muscle
above greater
Iliopsoas muscle trochanter
and tendon Tensor fasciae
latae muscle
Tensor fasciae
Iliopsoas muscle
latae muscle
Lesser Periosteum
trochanter opened

Vastus lateralis
Femur roughened muscle split
with osteotome
Periosteum Lesser trochanter
anchored to femur
N
L, Next a large Ober tendon passer is inserted through O
the hole in the wing of the ilium, directed deep to the
glutei, and brought out in the greater trochanteric region by
splitting the insertion of the fibers of the gluteus medius
muscle. Iliopsoas
M and N, The iliopsoas muscle is then transferred laterally muscle
by this route with the Ober tendon passer. The nerve supply
to the iliacus is again checked to be sure that it is not under Periosteum Vastus
lateralis
great tension. Next the hip is abducted at least 45 to 60 muscle
degrees and internally rotated 10 to 15 degrees. The site of
Periosteum and
insertion of the iliopsoas tendon on the femoral shaft is vastus lateralis
determined and roughened with curved osteotomes. The muscle sutured over
muscle should be under proper tension. iliopsoas
O, The lesser trochanter is anchored to the proximal end tendon
of the femur by one or two transversely placed small staples.
Mustard recommends making a trapdoor in the femur, into P
which the lesser trochanter is drawn and anchored by heavy
wire sutures.
P, The periosteum and vastus lateralis muscle are sutured
to the edges and over the iliopsoas tendon.

Continued on following page

e256 SECTION VI  Neuromuscular Disorders

Plate 37-2  Iliopsoas Muscle Transfer for Paralysis of the Hip Abductors, cont’d

Reattachment of muscles Q and R, The rectus femoris and sartorius muscles are
sutured to the inferior and superior iliac spines, respec-
tively. The tensor fasciae latae, gluteus medius and
Iliac apophysis minimus, and abdominal muscles are sutured to the iliac
crest. The wound is closed in layers in routine manner.
A one-and-one-half hip spica cast is applied with the hip
Gluteus in 60 degrees of abduction, 10 to 15 degrees of medial
medius rotation, and slight flexion.
muscle Capsule
of hip
Femoral artery, Postoperative Care
vein,
and nerve Four to 6 weeks after surgery, the patient is readmitted
Tensor fasciae to the hospital, the cast is removed, and a new bivalved
Sartorius muscle
latae muscle hip spica cast is made. It should be cut low on the lateral
side so that hip abduction exercises can be performed in
Rectus the posterior half of the cast. Radiographs of the hips are
Q
femoris obtained to determine the stability of the hip joint.
muscle Great care should be exercised to avoid causing a patho-
logic fracture of the femur when the child is lifted out
of the cast.
Training of the iliopsoas transfer follows the same
general principles as training of tendon transfers in polio-
myelitis. In myelomeningocele, however, extensive
paralysis of the lower limb necessitates orthotic support,
and the patient is much younger. Thus as soon as the
transferred iliopsoas has fair motor strength and the
lower limbs can be adducted to neutral position, weight
bearing is permitted in bilateral above-knee orthoses.
The butterfly pelvic band keeps the hips in 5 to 10
degrees of abduction during locomotion. At night, the
hips and the transfer are protected in the bivalved hip
spica cast or in a plastic hip-knee-ankle-foot orthosis.

Iliopsoas muscle
R Iliopsoas muscle
pulled through
window in ilium
 CHAPTER 37  Poliomyelitis e257

Plate 37-3  Lloyd Roberts Technique of Intertrochanteric Oblique Osteotomy of the Proximal End
of the Femur and Internal Fixation With Coventry Apparatus (Lag Screw and Plate)

Guide pin inserted Lateral cortex of upper

in femoral neck femoral shaft reamed

Cannulated reamer
fitted over guide pin

Pin stops
immediately distal to
A capital femoral physis B

The patient is placed supine on a radiolucent operating
table. The operation is performed under image intensifica-
tion radiographic control. The iliac region, hip, and entire
lower limb are prepared in sterile fashion and draped so
that the limb can be manipulated freely.
Operative Technique
A, The incision begins 1 cm posterior and inferior to the
anterior superior iliac spine, curves across to the top of
the greater trochanter, and continues distally along the
femoral shaft for a distance of 6 to 8 cm. The subcutane-
ous tissue is divided in line with the skin incision. The
deep fascia is incised and the interval between the tensor
fasciae latae anteriorly and the gluteus medius posteriorly
is developed by blunt dissection. The vastus lateralis is
divided longitudinally by an L- or U-shaped incision, and
the part of it that originates from the anterior aspect of
the intertrochanteric area is detached. With a periosteal
elevator, the intertrochanteric region and the upper
femoral shaft are exposed. At this time the calcar femorale
is visualized, and the femoral head can be palpated within
the capsule. A sturdy stainless steel pin of appropriate
diameter, usually 0.062 in, is chosen; the operator must
be sure that its diameter fits the hole in the lag screw. With
the hip in full medial rotation, a 3-mm hole is drilled
through the center of the lateral cortex of the upper
femoral shaft, 0.75 to 1.0 cm below the growth plate of
the greater trochanter. To avoid injury to the growth plate
of the apophysis, the surgeon should verify its site with
image intensification radiography. Next the guide pin is
inserted into the femoral neck parallel to the floor in a
proximally inclined oblique plane parallel to the long
axis of the femoral neck. The tip of the pin should
stop immediately distal to the capital femoral physis.
Proper placement of the guide pin is crucial and is con-
firmed with anteroposterior and lateral image-intensified
radiographs.
B, A cannulated reamer (with a stop to prevent more than
½-in penetration) is fitted over the guide pin. The lateral
cortex of the upper femoral shaft is reamed to permit firm
fixation of the lag screw in the cancellous bone.

Continued on following page

e258 SECTION VI  Neuromuscular Disorders

Plate 37-3  Lloyd Roberts Technique of Intertrochanteric Oblique Osteotomy of the Proximal End
of the Femur and Internal Fixation With Coventry Apparatus (Lag Screw and Plate), cont’d

Lag screw inserted in

femoral neck, stops
short of capital physis

Guide pin

Drill holes marking

line of osteotomy
Graft source

C D Femoral osteotomy completed

at intertrochanteric level
parallel to calcar

Top hole of side plate

engages protruding
end of lag screw

Graft placed

Side plate (bent to

appropriate angle) Distal fragment adducted
and rotated laterally

C, Next with the special lag screw inserter, a lag screw of
appropriate length is inserted into the femoral neck. It
should stop short of the capital physis. To avoid injury to
the growth plate, the surgeon should confirm the position
of the screw with anteroposterior and lateral radiographs.
D, With an oscillating saw, the femoral osteotomy is per-
formed at the intertrochanteric level parallel to the calcar;
use the guide pin, which protrudes from the lag screw, to
guide the direction of osteotomy and verify it with image
intensification radiography. (Drill holes may be used to
mark the line of osteotomy.) Once the osteotomy is com-
pleted, gently strip the adjacent periosteum to mobilize
the bone fragments and permit free rotation of the femoral
shaft.
E, The side plate is bent to the appropriate angle. The
guide pin is removed and the top hole of the side plate is
engaged to the protruding end of the lag screw. A can-
nulated level with a handle is attached to the lag screw for
firm control of the upper fragment. The distal fragment is
adducted and rotated laterally to the desired degree. The
oblique line of the osteotomy will often make a triangle
of bone at the upper end of the femoral shaft that will
protrude anteriorly; this bone is excised and used as a local
bone graft. The osteotomized fragments are apposed and
secured by attaching the side plate to the femoral shaft
with screws and a nut at the top of the lag screw and the
proximal fragment. Final radiographs are taken to double-
check security of the fixation device. A one-and-one-half
hip spica plaster-of-Paris cast is applied.
Postoperative Care
The child is usually sent home 3 to 4 days postoperatively
and readmitted to the hospital 6 weeks later. The plaster
cast is removed, and the hip and knee are mobilized. When
able to ambulate with crutches (three-point partial weight
bearing on the affected limb), the patient is discharged,
usually within 2 to 4 days.
The plate and screws are removed 6 months
postoperatively.
 CHAPTER 37  Poliomyelitis e259

Plate 37-4  Anterior Transfer of the Peroneus Longus Tendon to the Base of the Second Metatarsal

Incisions
Peroneus brevis tendon

b Line of division
Peroneus longus
tendon

A B
a

Operative Technique
The patient is placed in a semilateral position with a
sandbag under the hip on the affected side.
A, A 3- to 4-cm-long incision (a) is made over the lateral
aspect of the foot from the base of the fifth metatarsal to
a point 1 cm distal to the tip of the lateral malleolus.
Subcutaneous tissue is divided, and the tendons of the
peroneus longus and brevis are exposed. A second incision
(c) is then made over the fibular aspect of the leg; it begins
3 cm above the lateral malleolus and extends proximally
for a distance of 7 cm. Subcutaneous tissue and deep fascia
are incised, and the peroneal tendons are exposed by divid-
ing their sheath. The peroneus longus tendon lies superfi-
cial to that of the peroneus brevis. The muscle is inspected
to ensure that it is of normal gross appearance.
B, Next the peroneus brevis muscle is detached from the
base of the fifth metatarsal and a whip suture is inserted
into its distal end.

Continued on following page

e260 SECTION VI  Neuromuscular Disorders

Plate 37-4  Anterior Transfer of the Peroneus Longus Tendon to the Base of the Second Metatarsal, cont’d

Peroneus brevis tendon with

whip suture

D
Division of
peroneus longus Stump of peroneus
tendon longus tendon sutured to
C peroneus brevis tendon

Pulling tendon into proximal wound with

two-hand technique

Peroneus
longus tendon

Deep peroneal
nerve Peroneus
brevis tendon

E F

C and D, The peroneus longus tendon is divided as far
distally as possible. The peroneus brevis tendon is sutured
to the distal stump of the peroneus longus tendon to pre-
serve the longitudinal arch and depression of the first
metatarsal.
E and F, The peroneus longus tendon is mobilized and, with
a two-hand technique, gently pulled into the proximal
wound in the leg. The origin of the peroneus brevis tendon
from the fibula should not be disrupted. An adequate
opening is made in the intermuscular septum with care
taken not to injure any neurovascular structures.

Tibia
Deep
peroneal
nerve
Ober
tendon
passer
G
Technique of anchoring tendon to bone
Drill
I J
G and H, A 2- to 3-cm-long longitudinal incision is made
over the dorsum of the foot (incision b in part A), centered
over the base of the second metatarsal. The deep fascia is
divided, and the extensor tendons are retracted to expose
the proximal fourth of the second metatarsal. The perios-
teum is divided longitudinally and the cortex of the recipi-
ent bone is exposed.
With an Ober tendon passer, the peroneus longus tendon
along with its sheath is passed into the anterior tibial com-
partment, deep to the cruciate crural and tarsal ligaments,
and delivered into the incision on the dorsum of the foot.
We do not recommend a subcutaneous route. A direct line
of pull of the peroneus longus tendon from its origin to its
insertion should be ensured.
CHAPTER 37  Poliomyelitis e261
Fibula
Peroneus
longus
tendon
I II III
Peroneus
brevis
tendon
H
Periosteal incision
Periosteal closure
Suture
Peroneus
longus t.
I and J, A drill hole is made in the base of the second
metatarsal. A star-head hand drill is used to enlarge the hole
to receive the tendon adequately. The peroneus longus
tendon is passed through the recipient hole and sutured on
itself under correct tension. If the peroneus longus tendon
is not of adequate length, two small holes are made 1.5 cm
distal to the large hole at each side of the metatarsal shaft.
The silk sutures at the end of the tendon are passed
from the large central hole to the lateral distal small holes
and the tendon is securely sutured to the bone. The ankle
joint should be in neutral position or 5 degrees of dorsiflex-
ion. The pneumatic tourniquet is released and hemostasis
is obtained. The wounds are closed in routine manner. A
long-leg cast is applied with the ankle in 5 degrees of dor-
siflexion and the knee in 45 degrees of flexion. Postopera-
tive care follows the guidelines outlined in the section on
the principles of tendon transfer (see text).
e262 SECTION VI  Neuromuscular Disorders

Plate 37-5  Anterior Transfer of the Posterior Tibial Tendon Through the Interosseous Membrane

Posterior tibial tendon

(preserve maximum length)

Incision

Incision

Stump of tendon
A B

Delivery of posterior tibial tendon Operative Technique

into proximal wound
A, A 4-cm-long incision is made over the medial aspect of
the foot, beginning posterior and immediately distal to the
tip of the medial malleolus and extending to the base of the
Incision
first cuneiform bone. A second longitudinal incision is made
1.5 cm posterior to the subcutaneous medial border of the
tibia, beginning at the center of the middle third of the leg
and ending 3 cm from the tip of the medial malleolus.
B, The posterior tibial tendon is identified at its insertion,
and its sheath is divided. The tendon is freed and sectioned
at its attachment to the bone, with maximal length pre-
served. The peritenon of the distal 3 cm of the tendon is
excised, and a 00 silk whip suture is inserted in its distal
end.
C, The posterior tibial muscle is identified in the leg inci-
sion, and its sheath is opened and freed. Traction on the
Incision
stump in the foot incision can help in its identification.
Incision Moist sponges and a two-hand technique are used to deliver
the posterior tibial tendon into the proximal wound. The
muscle belly is freed well up the tibia. The operator must
be careful to preserve the nerve and blood supply to the
posterior tibial muscle.

C D
 CHAPTER 37  Poliomyelitis e263

Window cut into

interosseous membrane

Tibialis
anterior muscle

Incision

Incision

CAUTION: Avoid injury to anterior tibial

D vessels and deep peroneal nerve

D, A longitudinal skin incision is made anteriorly one fin-
gerbreadth lateral to the crest of the tibia, starting at the
proximal margin of the cruciate ligament of the ankle and
extending 7 cm proximally. A 4-cm-long longitudinal inci-
sion is made over the dorsum of the foot, centered over the
base of the second metatarsal.
E, The anterior tibial muscle is exposed and elevated from
the anterolateral surface of the tibia, together with the
anterior tibial artery and extensor hallucis longus muscle. It
is retracted laterally, exposing the interosseous membrane.
Next a large rectangular window is cut in the interosseous
membrane. The surgeon should avoid stripping the perios-
teum from the tibia or fibula.

Continued on following page

e264 SECTION VI  Neuromuscular Disorders

Plate 37-5  Anterior Transfer of the Posterior Tibial Tendon Through the Interosseous Membrane, cont’d

Tibialis posterior muscle passed through

window in interosseous membrane

V IV III II I Tibialis posterior tendon

anchored into base
of second metatarsal

F
Ober tendon passer delivers tibialis posterior tendon
beneath extensors and cruciate ligament
into wound over base
of second metatarsal G

F and G, With an Ober tendon passer, the posterior tibial
tendon is passed posteriorly to anteriorly through the
window in the interosseous membrane into the anterior
tibial compartment. Care is needed to avoid twisting the
tendon or damaging its nerve or blood supply. Next with
the aid of an Ober tendon passer, the posterior tibial
tendon is passed beneath the cruciate ligament and the
extensors and is delivered into the wound on the dorsum
of the foot. It is anchored to the base of the second meta-
tarsal bone according to the method described for anterior
transfer of the peroneal tendons (see Plate 37-4). The
wounds are closed in layers in the usual manner. A short-
leg cast that will hold the foot in neutral position at the
ankle joint and the knee in 45 degrees of flexion is applied.
Postoperative Care
The principles of postoperative care are the same as for
any tendon transfer.
 CHAPTER 37  Poliomyelitis e265

Plate 37-6  Posterior Tendon Transfer to the Os Calcis for Correction of Calcaneus Deformity
(Green and Grice Procedure)

Partial division of
Achilles tendon
at its insertion

Incision

Operative Technique
It is best to place the patient in the prone position to facili-
tate surgical exposure of the heel. The posterior tibial and
peroneus longus and brevis tendons are divided distally at
their insertion and delivered into the proximal wound.
When the flexor hallucis longus tendon is to be transferred,
its distal portion is sutured to the flexor hallucis brevis
muscle. The anterior tibial tendon is delivered into the calf
and heel through the interosseous route.
A, A 5-cm-long posterior transverse incision is made around
the heel along one of the skin creases in the part that neither
presses the shoe nor touches the ground.
B, The skin and subcutaneous flaps are undercut and
reflected to expose the os calcis and the insertion of the
Achilles tendon. An L-shaped cut is made in the lateral two
thirds of the insertion of the Achilles tendon. The divided
portion is reflected proximally to expose the apophysis of
the os calcis.
C, Next, with a 9 64 -in drill, a hole is made through the
calcaneus, beginning in the center of the apophysis
and coming out laterally at its plantar aspect. With a Hole drilled in center of
diamond-head hand drill and curet, the hole is enlarged to calcaneal apophysis
extending to plantar
receive all the transferred tendons. aspect near lateral border

Continued on following page

e266 SECTION VI  Neuromuscular Disorders

Plate 37-6  Posterior Tendon Transfer to the Os Calcis for Correction of Calcaneus Deformity
(Green and Grice Procedure), cont’d

Tendons sutured
to periosteum
of os calcis

Drill hole
Peroneus
longus tendon
Flexor
hallucis
longus tendon

Twisted wire probe Capsule over

to pull tendons calcaneocuboid joint
through tunnel
drilled in calcaneus
E
D

D, Through a lateral incision, the intermuscular septum is
widely divided between the lateral and posterior compart-
ments. An Ober tendon passer is inserted through the
wound and directed anterior to the Achilles tendon into
the transverse incision over the os calcis. The threads of the
whip sutures at the ends of the peroneal tendons are passed
through the hole in the tendon passer and the tendons are
delivered at the heel. The posterior tibial tendon is deliv-
ered at the heel by a similar route, through an incision in
the intermuscular septum between the medial and posterior
compartments and anterior to the Achilles tendon. Next,
with a twisted wire probe, the tendons are inserted into the
hole and pulled through the tunnel in the calcaneus.
E, At their point of exit on the lateral aspect of the calca-
neus the tendons are sutured to the periosteum and liga-
mentous tissues. The tendons are sutured under enough
tension to hold the foot in 15 degrees of equinus when the
remaining ankle dorsiflexors are fair in motor strength and
in 30 degrees of equinus if they are good or normal. The
tendons are sutured to each other and to the periosteum of
the apophysis of the calcaneus at the posterior end of the
tunnel.

peroneus longus tendon
Achilles tendon sutured
to its distal stump
F G
F and G, The divided portion of the Achilles tendon is
resutured in its original position posterior to the transferred
tendons.
The wounds are closed and a long-leg cast is applied to
hold the knee in 45 to 60 degrees of flexion and the hind-
foot in 15 to 30 degrees equinus, but the forefoot in neutral
position. Cavus deformity of the forefoot should be avoided.
Postoperative Care
Three to 4 weeks after surgery the solid cast is removed
and a new above-knee bivalved cast is made to protect the
limb at all times when exercises are not being performed.
It is imperative to prevent forced dorsiflexion of the ankle
and stretching of the transferred tendons.
Exercises are first performed in the side-lying position
with gravity eliminated and then in the prone position
against gravity. To teach the patient the new action of the
transferred muscle, the patient is asked to move the foot in
the direction of a component of the original action of the
muscle and then to plantar flex the foot. For example,
when the peroneals are transferred, the patient is asked to
evert and plantar flex the foot or, when the anterior tibial
is transferred, to invert and plantar flex the foot. Soon,
under supervision, guided dorsiflexion of the foot is per-
formed along with plantar flexion. It is important to develop
reciprocal motion and motor strength of the agonistic and
antagonistic muscles. Weight bearing is not allowed.
CHAPTER 37  Poliomyelitis e267
Tendons sutured to
periosteum of os calcis
Peroneus brevis tendon
sutured to distal stump of
peroneus longus tendon
New course of
and flexor
hallucis longus tendon
Ambulation is permitted in an above-knee bivalved cast
with crutches.
In about 4 to 6 weeks, when the transferred tendons are
fair in motor strength, the patient is allowed to stand on
both feet. The heel of the foot that was operated on rests
on a 3-cm-thick block to prevent stretching of the trans-
ferred tendons. Bearing partial weight on the foot, the
patient should rise up on tiptoes while holding onto a table
with the hands or using two crutches.
When the transplant functions effectively during tiptoe
standing, walking with crutches is begun with three-point
gait and partial weight bearing on the affected limb. The
heel of the shoe is elevated with a 1- to 1.5-cm lift that
tapers in front (toward the toes). Walking periods are grad-
ually increased. When the transplant works effectively in
gait and take-off has been developed in walking, standing-
tiptoe rising exercises are started without the support of
crutches. The knee should not be flexed and the patient
should not lean forward while rising up on the toes at least
three times. This may take a long time (as much as a year
or more), but it is an important phase of postoperative
management.
A plantar flexion spring orthosis or an orthosis with pos-
terior elastic is worn when the patient is uncooperative in
the use of crutches or when muscular control of the knee
and hip is poor because of extensive paralysis. A stop at the
ankle prevents dorsiflexion of the ankle beyond neutral
position.
e268 SECTION VI  Neuromuscular Disorders

Plate 37-7  Triple Arthrodesis

Incisions

Talonavicular
capsule

Peroneal tendons

Flap reflected distally

Extensor digitorum
Fat in sinus tarsi brevis muscle

Cruciate ligament

Periosteum Calcaneocuboid
capsule

A
Incision
B

Operative Technique elevated in one mass from the calcaneus and lateral aspect
of the neck of the talus and retracted distally. It is essential
A pneumatic tourniquet is placed on the proximal aspect of
to provide a viable soft tissue pedicle to obliterate the dead
the thigh, and the patient is positioned semilaterally with a
space remaining at the end of the operation.
large sandbag under the hip on the affected side.
Next an incision is made superiorly over the periosteum
A, A curvilinear incision centered over the sinus tarsi is
of the talus, and the head and neck of the talus are carefully
made. It starts one fingerbreadth distal and posterior to the
exposed. The upper flap of the skin, subcutaneous tissue,
tip of the lateral malleolus and extends anteriorly and dis-
and periosteum should be kept as thick as possible to avoid
tally to the base of the second metatarsal bone.
necrosis. Traction sutures are placed on the periosteum. At
B, Skin flaps should not be developed. The incision is
no time are the skin edges to be retracted. It is not necessary
carried to the floor of the sinus tarsi. By sharp dissection
to divide the peroneal tendons or their sheaths. By subperi-
with scalpel and periosteal elevator, the periosteum of the
osteal dissection, the peroneal tendons are retracted poste-
calcaneus, the adipose tissue contents of the sinus tarsi, and
riorly to expose the subtalar joint.
the tendinous origin of the extensor digitorum brevis are

Periosteum
Talonavicular
capsule opened
C D
Sinus tarsi cleared
of all soft tissue
Calcaneocuboid
capsule opened
Periosteum
C and D, The capsules of the calcaneocuboid, talonavicular,
and subtalar joints are incised. These joints are opened and
their cartilaginous surfaces clearly visualized by turning the
foot into varus position. A lamina spreader placed in the
sinus tarsi will aid in exposure of the posterior subtalar joint.
Before excision of the articular cartilaginous surfaces, the
surgeon should review the deformity of the foot and decide
on the wedges of bone to be removed for correction of the
deformity. Circulation of the talus and the complications of
avascular necrosis of the talus and arthritis of the ankle after
triple arthrodesis should always be kept in mind. The height
of the foot is another consideration. A low lateral malleolus
CHAPTER 37  Poliomyelitis e269
Wedge to be removed
Angles and direction of osteotomes
dependent on type and degree
of deformity to be corrected
causes difficulty wearing shoes. At times, it is best to add a
bone graft rather than resect wedges of bone. With a sharp
osteotome, the cartilaginous surfaces of the calcaneocuboid
joint are excised. Next the articular cartilage surface of the
talonavicular joint is exposed, the plane of osteotomy being
perpendicular to the long axis of the neck of the talus and
parallel to the calcaneocuboid joint. When the beak of the
navicular is unduly prominent medially or when, in a varus
foot, one cannot obtain adequate exposure of the talona-
vicular joint without excessive retraction, a second dorso-
medial incision may be used to expose the talonavicular
joint.
Continued on following page
e270 SECTION VI  Neuromuscular Disorders

Plate 37-7  Triple Arthrodesis, cont’d

E to H, With a lamina spreader in the sinus tarsi, the Talus

subtalar joint is widely exposed and the cartilage of the Lines of division
anterior and posterior joints is excised. The surgeon should Calcaneus
keep in mind the neurovascular structures behind the
medial malleolus. The wedges of bone that must be
removed to correct the deformity are excised in one mass Lamina spreader
with the articular cartilage. It is of great help to leave the
osteotome used on the opposing articular surface in place
and held steady by the assistant as a second osteotome or
gouge is used to take contiguous cartilage and bone. The
divided articular surfaces of the joints to undergo arthro­
desis are fish-scaled for maximum raw cancellous bony
contact.
The skin is closed with interrupted sutures. A well-
molded long-leg cast is applied with the foot held in the E
desired position. We have not found fixation of the joints
by staples necessary and do not recommend it. In foot
stabilization in children with cerebral palsy, especially in
the severely athetoid or spastic child, secure crisscross
Kirschner wires are used to maintain position. These wires
are removed in 6 to 8 weeks.

G H
 CHAPTER 37  Poliomyelitis e271

Plate 37-8  Extraarticular Arthrodesis of the Subtalar Joint (Grice Procedure)

Operative Technique
A, A 2-in-long, slightly curved incision is made over the
subtalar joint, centered over the sinus tarsi. Incision
B, The incision is carried down to the sinus tarsi. The cap-
sules of the posterior and anterior subtalar articulations are
identified and left intact. The operation is extraarticular. If
the capsule is opened inadvertently, it should be closed with
interrupted sutures.
The periosteum on the talus corresponding to the lateral
margin of the roof of the sinus tarsi is divided and reflected
proximally. The fibrofatty tissue in the sinus tarsi along with
the periosteum of the calcaneus corresponding to the floor
of the sinus tarsi and the tendinous origin of the short toe A
extensors from the calcaneus are elevated and reflected
distally in one mass.
C, The remaining fatty and ligamentous tissue from the Lines of incision
sinus tarsi is thoroughly removed with a sharp scalpel and to excise fat pad
curet. Fat in sinus
tarsi

Cruciate lligament
B Peroneal tendons
Extensor digitorum
brevis muscle

CAUTION: Do not
open articular capsules

C Curet excising fat

from sinus tarsi

Continued on following page

e272 SECTION VI  Neuromuscular Disorders
Plate 37-8  Extraarticular Arthrodesis of the Subtalar Joint (Grice Procedure), cont’d
Osteotome measuring
length of graft to be used
Sinus tarsi
D, Next the foot is manipulated into equinus position and
inversion and the calcaneus rotated into its normal position
beneath the talus to correct the valgus deformity. Broad
straight osteotomes of various size (¾ to 11 4 in or more) are
inserted into the sinus tarsi to block the subtalar joint and
determine the length and optimum position of the bone
graft and the stability that it will provide. The long axis of
the graft should be parallel to that of the leg when the ankle
is dorsiflexed into neutral position, and the hindfoot should
be in 5 degrees valgus or neutral, but never varus. Even a
slight degree of varus deformity of the heel seems to
increase with growth.
Bone graft bed on
inferior surface of talus
Bone graft bed on
superior surface of calcaneus
E, The optimal site of the bone graft bed is marked with
the broad osteotome. A thin layer of cortical bone (⅛ to 116
in) is removed with a dental osteotome from the inferior
surface of the talus (the roof of the sinus tarsi) and the
superior surface of the calcaneus (the floor of the sinus
tarsi) at the site marked for the bone graft. It is best to
preserve the most lateral cortical margin of the graft bed to
support the bone block and prevent it from sinking into soft
cancellous bone.

Shaping of bone graft
from tibia
Shaped fibular graft
(our preferred method)
F, A bone graft of appropriate size can be taken from the
anteromedial surface of the proximal tibial metaphysis as a
single cortical graft, which is then cut into two trapezoidal
bone grafts with their cancellous surfaces facing each other.
We prefer to use fibular bone grafts with the cortices intact.
The corners of the base of the graft are removed with a
rongeur so that it is trapezoidal and can be countersunk into
cancellous bone and thereby prevent lateral displacement
after surgery.
The bone graft is placed in the prepared graft bed in the
sinus tarsi by holding the foot in varus position. An impactor
may be used to fix the cortices of the graft in place. The
longitudinal axis of the graft should be parallel to the shaft
of the tibia with the ankle in neutral position.
CHAPTER 37  Poliomyelitis e273
Bone graft bed on
superior surface of calcaneus
Longitudinal axis of graft placed
parallel to shaft of tibia
With the foot held in the desired position, the distal soft
tissue pedicle of fibrofatty tissue of the sinus tarsi, the
calcaneal periosteum, and the tendinous origin of the short
toe extensors are sutured to the reflected periosteum from
the talus. The subcutaneous tissue and skin are closed with
interrupted sutures, and an above-knee cast is applied.
Postoperative Care
The cast is removed 6 to 10 weeks after surgery and radio-
graphs are taken. If there is solid healing of the graft, gradual
weight bearing is allowed with the protection of crutches.
Active and passive exercises are performed to strengthen the
muscles and increase range of motion of the ankle and knee.
e274 SECTION VI  Neuromuscular Disorders

Plate 37-9  Arthrodesis of the Ankle Joint via the Anterior Approach Without Disturbing
the Distal Tibial Growth Plate

Tibialis anterior muscle Tibia

perficial fibular nerve
Crest of tibia

Transverse crural ligament Incision

Extensor digitorum
longus muscle Long saphenous vein
Fibula
Anterior tibial artery
Extensor hallucis Epiphyseal
longus muscle plates Epiphyses
Medial malleolus
CAUTION:
Lateral malleolus
Cruciate ligament Do not disturb
Digital branches of Tendon of tibialis
medial dorsal anterior muscle
cutaneous nerve Cruciate ligament

A B

Operative Technique
A and B, A longitudinal skin incision is made beginning 7 cm
proximal to the ankle joint between the extensor digitorum
longus and extensor hallucis longus tendons and extended
distally across the ankle joint in line with the third meta-
tarsal; the incision ends 4 cm distal to the ankle joint.
The subcutaneous tissue is divided and the skin flaps are
mobilized and retracted to their respective sides. The veins
crossing the field are clamped, divided, and coagulated. The
intermediate and medial dorsal cutaneous branches of the
superficial peroneal nerve are identified and protected by
retraction to one side of the wound.
 CHAPTER 37  Poliomyelitis e275

Anterior tibial vessels

and deep peroneal nerve Capsule retracted

Tibia
Superficial
bular nerve
Extensor Transverse crural ligament
digitorum Talus
longus
muscle Tibialis anterior
Extensor muscle
hallucis
longus
muscle

Deep
peroneal Cruciate
artery, ligament
vein,
Fatty layer
and nerve
Silk suture
Median dorsal Cruciate
cutaneous ligament
nerve CAUTION: Do not injure
neurovascular bundle
Crural ligaments and deep
Capsule opened by
fascia divided and retracted
transverse incision
C with silk sutures D

C, The deep fascia and transverse crural and cruciate crural
ligaments are divided in line with the skin incision. The liga-
ments are marked with 00 silk suture for accurate closure
later.
D, The neurovascular bundle (deep peroneal nerve, anterior
tibial–dorsalis pedis vessels) is identified, isolated, and
retracted laterally with the extensor hallucis longus, exten-
sor digitorum longus, and peroneus tertius tendons. The
anterolateral malleolar and lateral tarsal arteries are isolated,
clamped, divided, and ligated. The distal end of the tibia,
ankle joint, and talus are identified. A transverse incision is
made in the capsule of the talotibial joint from the posterior
tip of the medial malleolus to the lateral malleolus. The
edges of the capsule are marked with 00 silk suture for
meticulous closure later.

Continued on following page

e276 SECTION VI  Neuromuscular Disorders

Plate 37-9  Arthrodesis of the Ankle Joint via the Anterior Approach Without Disturbing
the Distal Tibial Growth Plate, cont’d

Epiphyseal
growth plates

Fibula
Fibula Tibia
Tibia

Epiphyseal
growth plate
Posterior Anterior

Talus
Talus
Wedge of bone graft
Articular parts of from ilium to be inserted
tibia and talus
to be resected E
F Articular parts of
tibia and talus
to be resected

E to G, The capsule is reflected and retracted distally

Epiphyseal
on the talus and proximally on the tibia. The periosteum
growth plate
of the tibia should not be divided. The distal tibial and
fibular epiphyseal plates should not be disturbed in
Posterior capsule growing children. With thin curved and straight osteo-
of ankle joint
Epiphyseal tomes, the cartilage and subchondral bone are Tibia
removed
growth plate from the opposing articular surfaces of the distal tibia
CAUTION: Do
not disturb
and proximal talus down to raw bleeding cancellous
bone. Cartilage chips should not be left posteriorly.

Talus

Softened
H cancellous
bone Wedge
from ilium

Foot in 10˚–15˚ equinus

when placing wedge
in joint for arthrodesis
Medial
malleolus

G Cancellous
surface of talus
Capsule retracted
with silk sutures
I
 CHAPTER 37  Poliomyelitis e277

H, Next a large piece of bone for grafting is taken from the Epiphyseal
ilium and fashioned to fit snugly in the ankle joint. The graft growth plate
should have both cortices intact and should be thicker at
one end and wedge shaped. The cortices of the graft are
perforated with multiple tiny drill holes. The ankle joint is
Tibia
held in the desired position, and the bone graft is firmly
fitted into the joint with an impactor. If any space is left on
each side of the graft, it is packed with cancellous bone from
the ilium. The graft in the ankle joint gives compression
force to the arthrodesis and adds to the height of the foot
and ankle. The capsule of the ankle joint and the transverse
crural and cruciate crural ligaments are closed carefully in
layers. The deep fascia and the wound are closed in the
usual manner. Anteroposterior and lateral radiographs are Talus
taken to ensure that the ankle joint is in the desired
position.
I, A long-leg cast is applied with the ankle joint in the Softened
desired position of plantar flexion (boys, 10 degrees; girls, H cancellous
15 to 20 degrees) and the knee in 45 degrees of flexion. bone Wedge
from ilium

Postoperative Care
Periodic radiographs are taken to determine the position of
Foot in 10˚–15˚ equinus
the graft and the extent of healing. Eight to 10 weeks after when placing wedge
surgery, the solid cast is removed and radiographs are taken in joint for arthrodesis
with the cast off. Ordinarily, by this time the fusion is solid
and the patient is gradually allowed to be ambulatory. Full
weight bearing is begun 2 to 3 weeks later.

I
e278 SECTION VI  Neuromuscular Disorders

Plate 37-10  Flexorplasty of the Elbow (the Mayer and Green Modification of the Steindler Technique)

A
Incision

Incision of deep fascia

Triceps brachii muscle

Line of division of fascial

roof over ulnar nerve

B Medial
epicondyle
Ulnar nerve retracted

B, The subcutaneous tissue and fascia are divided in line

Operative Technique
A, With the elbow in extension, a curved longitudinal inci-
sion is made over the anteromedial side of the elbow, begin-
ning approximately 3 in above the flexion crease of the
elbow joint over the medial intermuscular septum and
extending distally to the anterior aspect of the medial epi-
condyle. At the joint level it turns anterolaterally on the
volar surface of the forearm along the course of the pronator
teres muscle for a distance of approximately 2 in.
with the skin incision, and the skin flaps are widely mobi-
lized and retracted. Next the ulnar nerve is located poste-
rior to the medial intermuscular septum and lying in a
groove on the triceps muscle. It is isolated, and moist hernia
tape is passed around it for gentle handling. The ulnar nerve
is traced distally to its groove between the posterior aspect
of the medial epicondyle of the humerus and the olecranon
process. The fascial roof over the ulnar nerve is carefully
divided under direct vision over a grooved director.
 CHAPTER 37  Poliomyelitis e279

Ulnar nerve

Cut edge of
deep fascia

Triceps brachii
muscle
Medial epicondyle
exor carpi ulnaris muscle

Olecranon

Biceps brachii tendon

Cutaneous nerve Lacertus fibrosus

Brachioradialis Biceps brachii

muscle muscle

Common flexors Ulnar nerve

Line of incision of deep fascia

and lacertus fibrosus

C, The ulnar nerve is dissected free distally to the point D, Next the biceps tendon is identified over the anterior
where it passes between the two heads of the flexor carpi aspect of the elbow joint. The deep fascia and the lacertus
ulnaris muscle. Inadvertent damage to branches of the ulnar fibrosus are divided along the medial aspect of the biceps
nerve to the flexor carpi ulnaris should be avoided. A second tendon.
piece of hernia tape is passed around the ulnar nerve in the
distal part of the wound, and the nerve is retracted
posteriorly.

Continued on following page

e280 SECTION VI  Neuromuscular Disorders

Plate 37-10  Flexorplasty of the Elbow (the Mayer and Green Modification of the Steindler Technique), cont’d

Brachioradialis muscle Biceps Median nerve

brachii tendon

Biceps brachii muscle retra

Cutaneous nerve
Brachial artery Brachialis muscle
(veins omitted)

Common flexors
Branch of median
nerve to pronator
Ulnar teres muscle
nerve

E
Medial
epicondyle

Biceps brachii tendon

Median nerve

Brachialis muscle
Lacertus fibrosus
cut
Brachial artery
Common flexors Triceps brachii muscle

Ulnar nerve

F
Osteotomy detaching common flexors
from medial epicondyle
E, By digital palpation, the interval between the biceps and F, Next, with an osteotome, the common flexor origin of
pronator teres muscle is developed. The brachial artery with the pronator teres, the flexor carpi radialis, the palmaris
its accompanying veins runs along the medial side of the longus, the flexor digitorum sublimis, and the flexor carpi
biceps tendon. The median nerve, lying medial to the bra- ulnaris is detached en bloc with a flake of bone from the
chial artery, is dissected free of surrounding tissue and medial epicondyle.
gently retracted anteriorly with moist hernia tape. The
branches of the median nerve to the pronator teres muscle
must be identified and protected from injury.
 CHAPTER 37  Poliomyelitis e281

Biceps brachii Median nerve and

tendon brachial artery
Brachioradialis muscle

Common flexors
Distal dissection of common Line of division
flexors with periosteal elevator of brachial muscle
Triceps brachii muscle

Ulnar nerve

G CAUTION: DO NOT INJURE NERVES

Periosteum
Split brachialis muscle
Chandler periosteal
elevator

Radius Two small holes for

anchoring tendon
sutures
Ulna

H Hole in distal humerus shaped to

receive tendon of common flexors

G, By sharp and blunt dissection, the flexor muscle mass is
freed and mobilized distally away from the joint capsule and
the ulna as far as the motor branches of the median nerve
and ulnar nerve will permit. A no. 1 silk whip suture is
placed in the proximal end of the common flexors.
H, The biceps muscle, brachial vessels, and median nerve are
retracted laterally, and the atrophied brachial muscle is split
longitudinally. The periosteum is incised and stripped to
expose the anterior aspect of the distal end of the humerus.
The elbow is then flexed to 120 degrees to determine
the site of attachment of the transfer (usually 2 in proximal
to the elbow). With a drill, a hole is made on the anterior
surface of the humerus. The opening is enlarged with pro-
gressively larger diamond-head hand drills to receive the
transferred muscle. The action of the transfer as a pronator
of the forearm is decreased by transferring it laterally on
the humerus. With smaller drill points, two tunnels are
made from the lateral and medial cortices of the humerus
and connected to the larger hole for passing the suture.
e282 SECTION VI  Neuromuscular Disorders

Plate 37-10  Flexorplasty of the Elbow (the Mayer and Green Modification of the Steindler Technique),
cont’d

Split brachialis muscle

Common flexors Periosteum

Brachialis muscle

Lateral view showing new

attachment site of common
flexors (Note: attachment
is 5 to 7 cm proximal
to medial epicondyle)

Common flexors

Tendon firmly
I Medial epicondyle attached to humerus
J

I and J, Because the elbow will be immobilized in acute
flexion, it is best to close the distal half of the wound
before anchoring the transplant to the humerus. The ends
of the whip suture are brought out through the tunnels,
and the common flexors and the origin are firmly secured
in the larger hole. The periosteum is closed with
interrupted sutures over the transferred tendon, thus rein-
forcing its anchorage. The proximal half of the wound is
closed, and a long-arm cast is applied with the elbow in
acute flexion and the forearm in full supination.
For postoperative care, see the guidelines outlined in
the text on principles of tendon transfer.
 CHAPTER 37  Poliomyelitis e283

Plate 37-11  Pectoralis Major Transfer for Paralysis of the Elbow Flexors

Proximal
incision

Cephalic vein
Deltoid muscle
Line of muscle
splitting

Distal
incision

Pectoralis major muscle

A Operative Technique
B
A, The patient is positioned
supine with the upper limb
supported on a hand table and
the shoulder in 45 degrees of
abduction and 30 degrees of
external rotation. Two incisions
are made, the first one follow-
ing the deltopectoral groove
and extending from the clavi-
cle down to the junction of the
Cephalic vein upper and middle thirds of the
Deltoid muscle
ligated and divided
retracted arm. The second incision is
Bicipital groove centered over the anteromedial
of humerus Pectoralis major aspect of the elbow.
tendon detached B, Through the first incision
Coracobrachialis the subcutaneous tissue and
muscle
deep fascia are divided, and the
cephalic vein is ligated if
necessary.
C, The pectoralis major tendon
is identified and divided at its
insertion, as close to the bone
Biceps brachii muscle, short head as possible. By blunt dissection
the muscle is mobilized from
the chest wall toward the clav-
icle. The deltoid muscle is then
Biceps brachii muscle, long head, detached retracted laterally and the
tendon of the long head of the
biceps is exposed as it runs
C upward toward the shoulder
joint. It is severed at the upper
end of the bicipital groove and
pulled distally into the wound.

Continued on following page

e284 SECTION VI  Neuromuscular Disorders
Plate 37-11  Pectoralis Major Transfer for Paralysis of the Elbow Flexors, cont’d
Deltoid muscle
Brachialis muscle
Biceps brachii
muscle, short
head
Biceps brachii muscle,
long head, freed
to its insertion
D Postoperative Care
Rerouting of biceps
brachii muscle, long head,
through pectoralis major
tendon
Origin of biceps brachii
muscle, long head,
sutured to its insertion
E on radial tuberosity
D, By blunt and sharp dissection, the muscle belly of the
long head of the biceps is mobilized to the lowest third of
the arm by freeing it from the short head. The vessels and
nerves entering the muscle belly are divided and ligated
as necessary. The tendon and muscle of the long head are
delivered into the distal second incision and freed down
to the tuberosity of the radius. Often, freeing the muscle
from adhesions to the overlying fascia requires sharp dis-
section. After complete mobilization of the long head of
the biceps by traction on its proximal end, the operator
should be able to flex the elbow.
E, The long head of the biceps is pulled into the upper
wound. Two slits are made in the tendon of the mobilized
pectoralis major through which the tendon of the long
head is passed, looped on itself, and brought down again
into the distal wound. With the elbow acutely flexed, the
proximal end of the tendon is sutured to its own tendon
of insertion through a slit in the distal part of the tendon.
Silk sutures are also inserted at the level of the tendon of
the pectoralis major. The incisions are then closed in
routine manner. A plaster-of-Paris–reinforced Velpeau
bandage is applied with the elbow acutely flexed.
Plaster-of-Paris immobilization is continued for 3 weeks.
At the end of this time active flexion and extension exer-
cises of the elbow are started, first with gravity eliminated
and then against gravity. A sling is used to protect the
transferred tendon from stretching. Care should be taken
to extend the elbow gradually so that active flexion above
the right-angle position is maintained. Extension of the
elbow is regained slowly.
 C H A P T E R 3 8 
Disorders of the
Peripheral Nervous
System
Chapter Outline
Hereditary Motor and Sensory Neuropathies
Congenital and Acquired Analgia
Guillain-Barré Syndrome
(Acute Polyradiculoneuritis)
Sciatic and Peroneal Nerve Palsy
Hereditary Motor and Sensory
Neuropathies
Hereditary motor and sensory neuropathies (HMSNs)
are a group of genetically acquired progressive peripheral
neuropathies (Box 38-1). The most common of this group
is Charcot-Marie-Tooth disease, described by the team
of Charcot and Marie, and independently by Tooth, in
1886. Dyck and Lambert classified the HMSNs in 1968
(Table 38-1).70-72
Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth disease (CMT) has classically been
divided into demyelinating and axonal forms. Although
types 1A, 1B, and 1C are characterized by demyelination
and type 2 by axonal degeneration, studies have established
intermediate forms such as type C and X-linked CMT, sug-
gesting a continuum of disease encompassing demyelination
and axonal degeneration. Studies have indicated that demy-
elination renders the axon susceptible to degeneration,
which may explain the overlap between what were tradi-
tionally considered demyelinating and axonal forms.345
Charcot-Marie-Tooth disease type 1 (CMT-1), also
known as HSMN I and II, is the most common heritable
chronic demyelinating neuropathy. The overall incidence
of the various forms of CMT ranges from 1/2500 to
1/5000.124,202 The disease is characterized by progressive
weakness and atrophy of distal musculature, depressed
tendon reflexes, slowed motor nerve conduction velocity,
and frequently a family history of the disorder.25 CMT-1
usually manifests in the second decade of life, but it may
become evident earlier in some patients.
Charcot-Marie-Tooth disease type 2 comprises a group
of peripheral neuropathies that are inherited as an autoso-
mal dominant or recessive disorder. Although CMT-1 is
generally described as a demyelinating process, CMT-2 is
David A. Podeszwa
characterized by axonal degeneration. It is characterized by
older age at onset (usually in the third decade) and normal
to only slightly diminished nerve conduction velocities, but
severely reduced compound motor action potentials. Deep
tendon reflexes are preserved. The prevalence of CMT-2 is
approximately one third that of CMT-1.164
Although CMT-2 is clinically indistinguishable from
CMT-1, it is pathologically and genetically distinct from
CMT-1.14,49,164 One form of CMT-2 maps to chromosome
1p36, which encodes for MPZ (CMT-2A), another maps to
chromosome 3p (CMT-2B), and another maps to chromo-
some 7p (CMT-2D)134,153,193 (Table 38-2). Unlike in CMT-1,
there is no enlargement of the peripheral nerves, and sensory
changes are infrequent.265 Nerve biopsy does not show
hypertrophy; rather, axonal degeneration is seen. The ortho-
paedic manifestations of the disease are the same as those
seen in CMT-1.
Genetics
An explosion in the number of CMT subtypes has occurred
as a result of localization of their different genetic abnor-
malities18,164,179 (see Table 38-2). There are many described
subtypes, including CMT-1 (hypertrophic demyelinating
form), CMT-2 (axonal form), and X-linked CMT neuropa-
thy (CMTX). CMT-1 is inherited as an autosomal dominant
trait. Genetic loci for CMT-1 have been mapped to chromo-
some 17 (CMT-1A), chromosome 1 (CMT-1B), and the
SIMPLE gene (CMT-1C).13,15,48 CMT-1A is most often asso-
ciated with a duplication in chromosome 17p11.2-12, an
area that codes for the peripheral myelin protein 22
(PMP22), a glycoprotein expressed in the myelin sheath of
Schwann cells.203,217,228,243,296,307
Patients with duplications have three copies of a normal
gene, a situation producing disease by what is termed a gene
dosage effect—too much of a normal gene.182,210 CMT-1B is
associated with point mutations in the myelin protein zero
(P0 or MPZ) gene.113 P0 is the major structural membrane
protein expressed in Schwann cells of peripheral nerves.328
CMTX is associated with mutations in the connexin32 gene
(more recently renamed the gap junction protein beta one
gene, GJB1), which codes for connexin, a gap junction
protein that enhances conduction across paranodes of the
peripheral nerves.20,26,31,164,230 Although the specific genetic
defects responsible for CMT have become known, there is
little correlation between genotype and phenotype, as evi-
denced by the variability seen in the clinical features among
affected family members. The Inherited Peripheral Neu-
ropathies Mutation Database (IPNMDB) provides a com-
prehensive and updated database of all known mutations.18
Prenatal diagnosis using molecular genetic techniques is
e285
e286 SECTION VI  Neuromuscular Disorders

now available but has led to ethical debates regarding
the use of prenatal genetic screening for nonlethal
diseases.23,175,213
Clinical Features
The age of onset varies in CMT, with some patients present-
ing before 5 years of age and others in adulthood. Physical
examination in infants and young children with CMT
proved by genetic analysis may be normal.19 Motor mile-
stones are usually achieved at normal ages in those with
most forms of CMT. Usually patients present in the second
decade of life. Boys and girls are affected in equal numbers,
although boys with CMTX are more significantly involved
than girls, who may be asymptomatic.69
Physical examination reveals diminished to absent deep
tendon reflexes, with the ankle reflex disappearing before
the knee reflex.19 Sensory loss occurs in two thirds of
affected individuals but is rarely noticed by the patients
themselves.19 There may be palpable enlargement of the
peripheral nerves. Motor testing results vary among patients
but usually include diminished strength in the anterior tibi-
alis and peroneus brevis. Tibialis anterior weakness can be
identified by the inability to stand on the heels. As the
patient actively tries to dorsiflex the ankle, the metatarso-
phalangeal (MTP) joints of the toes extend, and the great
toe may dorsiflex to augment the weak anterior tibialis.
Some patients have weakness throughout all the distal calf
musculature, and those with the most severe involvement

Box 38-1  Dyck-Lambert Features of

Hereditary Motor Sensory Neuropathies Table 38-1  Classification of Hereditary Motor
and Sensory Neuropathies*
1. The predominant involvement is of peripheral motor
neurons, with lesser involvement of peripheral sensory and Type Example
peripheral autonomic neurons.
2. The disorders are inherited. HMSN I Charcot-Marie-Tooth disease
3. The disorders are slowly progressive. (hypertrophic demyelinating type)
4. The neurologic signs are symmetric. HMSN II Charcot-Marie-Tooth disease (axonal type)
5. The disorders are system degenerations in that several
populations of neurons of similar structure and function are HMSN III Dejerine-Sottas disease
affected. HMSN IV Refsum disease
6. The pathologic features are nonfocal, and nerve fiber
degeneration consists of axonal atrophy and degeneration. HMSN V Spastic paraplegia
HMSN VI Similar to type I, with optic atrophy
From Dyck PJ: Inherited neuronal degeneration and atrophy affecting
peripheral motor, sensory, and autonomic neurons. In Dyck PJ, Thomas HMSN VII Similar to type I, with retinitis pigmentosa
PK, Lambert EH, et al, editors: Peripheral neuropathy, vol 2, ed 2,
Philadelphia, 1984, Saunders, p 1600. *Hereditary peripheral neuropathies.

Table 38-2  Charcot-Marie-Tooth Disease Subtypes

Type Genes and Loci Features Inheritance

1A PMP22 (peripheral myelin protein);
17p11.2 duplication
1B MPZ or P0 (myelin protein zero);
chromosome 1 point deletion
1C SIMPLE gene, 16p13.1-p12.3; early
growth response 2 gene
2 2a, chromosome 1
2b, chromosome 3
2c, chromosome 7
2d, chromosome 7
2e, chromosome 8
LMNA gene—encodes for lamin A/C
C Chromosome 1p34-p35
4 Chromosome 5; periaxin gene
(PRX); SBF2; GDAP1 gene (8q21)
X Connexin32 (CX32) gene
X chromosome
Most common form (70%); demyelinating Autosomal dominant
Less common (>10% of CMT1) Autosomal dominant
Demyelinating Autosomal dominant
Axonal Autosomal dominant and
recessive forms
Intermediate; axonal and demyelinating features Autosomal dominant
Outfolding of myelin sheaths; can be associated Autosomal recessive
with glaucoma; axonal or demyelinating;
usually early onset
Second most common form (7%-10%); X-linked dominant
abnormal gap junction communication;
intermediate slowing of nerve conduction
velocities; demyelinating and axonal features;
boys more severely affected

FIGURE 38-1  Father and daughter with Charcot-Marie-Tooth
disease type 1. Atrophy of the calves is striking, particularly in the
father.
have generalized muscle weakness and are unable to walk.
Atrophy of the calves can be seen in severely involved indi-
viduals, giving a so-called stork’s leg appearance (Fig. 38-1).
Foot deformity such as pes cavus, pes cavovarus, or claw
toes is very common. Calluses along the lateral border of
the foot, particularly over the base of the fifth metatarsal,
may be present.
Observation of the gait in patients with early CMT
reveals a subtle drop foot in swing phase. As the dorsiflexors
become weaker, a steppage gait develops, characterized by
plantar flexion of the ankle, hyperflexion of the knee, and
hyperflexion of the hip in swing phase. Often the hemipel-
vis also elevates during swing phase to allow clearance of
the foot, and the leg may circumduct.263 Other character-
istics of gait in patients with types I and II CMT include
failure of plantar flexion and increased foot supination,
hyperextension in stance, excessive external rotation of the
hip, and decreased hip adduction in stance (typical of a
broad-based gait).214
Examination of the hand reveals intrinsic atrophy. The
patient may have difficulty grasping a goniometer placed
between the fingers.
A careful examination of the spine should be performed.
Although CMT is the most common cause of pes cavus, a
spinal cord lesion such as a tethered cord or lipomeningo-
cele may manifest initially with pes cavus or cavovarus. The
back should be examined for evidence of underlying spinal
dysraphism, such as a hairy patch, dimpling, or hemangi-
oma. Scoliosis may be seen in teenagers with CMT but is
not seen in young children; therefore, any sign of abnormal
curvature in a young child should be further evaluated with
magnetic resonance imaging (MRI).
CHAPTER 38  Disorders of the Peripheral Nervous System e287
Central nervous system involvement such as sensorineu-
ral deafness has been described in a few patients with the
X-linked dominant form of the disease.294 Regardless of
the type and severity of CMT, the disorder has been
shown to affect the quality of life in childhood negatively,
with affected children exhibiting lower physical, psycho-
logical, and social well-being than the general pediatric
population.41
Diagnostic Evaluation
Up to 80% to 90% of all patients with CMT can now be
diagnosed only a blood test for the known gene muta-
tions.30,164 Patients who are suspected of having CMT should
be referred to a neurologist for further diagnostic testing.
Electromyography (EMG) and the measurement of nerve
conduction velocities can support the diagnosis in question-
able cases. In demyelinating forms of CMT, electrophysio-
logic testing reveals slowing of motor nerve conduction
velocities in the upper and lower extremities because of the
loss of myelin (Fig. 38-2). Conduction is slowed uniformly
from side to side and between different motor nerves.149 In
demyelinating forms of the disease, slowed nerve conduc-
tion velocities are present by 3 years of age, although symp-
toms may not be apparent.91 EMG may show fibrillation
caused by denervation.
In occasional patients, the diagnosis remains in question
after electrical studies and genetic testing, and a nerve
biopsy should be performed for definitive diagnosis. The
sural nerve is chosen as the site of biopsy. A 1.5-cm-long
segment of nerve is removed in the interval between the
posterolateral border of the Achilles tendon and lateral
malleolus.279 The nerve lies together with the lesser saphe-
nous vein, and the two structures should not be confused
when the surgeon is obtaining the biopsy specimen. Histo-
pathologic study of sural nerve biopsy specimens from
patients with CMT-1 reveals large onion bulb formations
resulting from cycles of demyelination and remyelination.
The myelin appears folded or uncompacted on ultrastruc-
tural examination.88 There is less demyelination and fewer
onion bulbs in CMTX than in classic CMT-1.269 Muscle
biopsy in CMT-1 shows scattered atrophic fibers and neu-
ropathic degeneration.75
MRI and computed tomography (CT) of the spine show
diffuse enlargement of the cauda equina, nerve roots, and
ganglia.45,52,208 A difference in the location of fatty infiltra-
tion of muscles on MRI has been identified between
CMT-1A and CMT-2A; patients with CMT-1A have selec-
tive fatty infiltration primarily in the anterior and lateral
compartment (peroneal nerve innervated) musculature,
whereas those with CMT-2A have involvement primarily of
the superficial posterior compartment muscles.53
Medical Treatment
Neuropathic pain is a significant problem for many people
with CMT. In one study, 71% of patients who participated
stated that they had neuropathic pain, most frequently in
the lower back, knees, and feet.44 The pain may be severe
enough to require treatment with medication.
There is no proven medical treatment for the various
forms of CMT. Animal models have been developed,
and progesterone antagonists and antioxidants, such as
vitamin C, coenzyme Q, and lipoic acid, have been under
e288 SECTION VI  Neuromuscular Disorders
Right Median Motor Right Median Motor
Wrist
Elbow
A 2000 (µV) 5 (ms) B 2000 (µV)
FIGURE 38-2  A, Normal median nerve conduction velocity (NCV) of 57 m/sec and amplitude of 12 mV. B, NCV from patient with
Charcot-Marie-Tooth (CMT) disease type 1. Because of demyelination, the NCV is significantly diminished (26 m/sec), whereas the
amplitude is 8.8 mV (within normal limits). C, NCV from patient with CMT-2. The velocity is 38 m/sec, which is low normal, but the
amplitude has significantly diminished to 1.3 m/sec. This result supports an axonal, rather than demyelinating, process.
investigation.264,275 With further delineation of the molecu-
lar genetic defects responsible for CMT, treatment with
gene transfer may be feasible in the future.
Orthopaedic Manifestations
and Surgical Treatment
Foot
Manifestations.  The most common orthopaedic manifesta-
tion of CMT is pes cavovarus.125,262,279 One study has found
that patients with bilateral cavovarus feet have a 78% prob-
ability of being diagnosed with CMT; a family history of
CMT increases the probability to 91%.211 Patients often
present initially to the orthopaedic surgeon for evaluation
of pes cavovarus, and the diagnostic workup leads to the
diagnosis of CMT. Atrophy and contracture of the intrinsic
musculature of the foot occur because of denervation,
which leads to collagen replacement of the intrinsic muscles
of the foot. There is an increase in the connective tissue
within and around the muscle tissue.262 These pathologic
changes produce elevation of the longitudinal arch because
of contracture of the plantar fascia, which increases the
pressure on the metatarsal heads and leads to painful cal-
luses along the lateral border of the foot and beneath the
metatarsal heads (Fig. 38-3).96 Varus of the hindfoot is
caused initially by the plantar flexion of the first ray and
forefoot equinus. In addition, the posterior tibialis and pero-
neus longus remain strong relative to the weak peroneus
brevis and anterior tibialis, leading to depression of the first
ray and increased varus.125,190 It is believed that the peroneus
longus remains relatively stronger than the peroneus brevis
because it is normally approximately twice as strong as the
brevis.190 Toe deformity results from nonfunctional intrinsic
muscles, which normally flex the MTP joints and extend
the distal and proximal interphalangeal (IP) joints of the
foot. With absent intrinsic function, the long toe flexors
create flexion deformities of the IP joints of the toes, and
the toes eventually hyperextend through the MTP joints,
assuming a dorsally displaced position with metatarsal head
prominence on the plantar aspect of the foot.105
Right Median Motor
Wrist
Wrist
Elbow
Elbow
5 (ms) C 2000 (µV) 5 (ms)
Standing lateral radiographs of the cavus foot in patients
with CMT show an increase in the Meary angle, measured
along the longitudinal axis of the talus and first metatarsal.
Normal values for the Meary angle range from 0 to 5
degrees, but values average 18 degrees in patients with
CMT.5 Varus is seen as parallelism of the talus and calcaneus
on the lateral radiograph. Finally, the lack of hindfoot
equinus can be documented by measurement of the calca-
neal pitch, which usually reveals dorsiflexion of the calca-
neus and the presence of forefoot equinus with the apex of
the deformity in the midfoot (Fig. 38-4).2
Azmaipairashvili and colleagues have described the
Coleman block lateral radiograph, a mediolateral weight-
bearing view for evaluating the flexibility of the hindfoot,
rotational correction in the ankle, and degree of correction
of forefoot supination.9a To obtain this view, the patient
stands on a 2-inch block of radiolucent material, allowing
the first, second, and third rays to drop down on the edge
of the block, as in the Coleman block test. The x-ray plate
is placed on the lateral side of the foot and the beam is
directed from medial to lateral. The authors suggested that
this radiographic view may help delineate the need for a
midfoot osteotomy versus soft tissue surgery alone to
correct a cavovarus foot deformity.
MRI studies have found that the appearance of fatty
infiltration differs according to the severity of CMT-1A,
ranging from fatty infiltration of only the intrinsic foot
muscles to fatty infiltration of the lateral, anterior, and
superficial posterior leg muscles; these MRI features cor-
related with the severity of symptoms.90
Treatment.  The treatment of pes cavovarus foot is described
in greater detail in Chapter 23. The Coleman block test,
performed by having the patient stand on a block with the
head of the first metatarsal hanging medially off the block,
is useful when planning surgical correction of the foot defor-
mity. When hindfoot varus is caused by plantar flexion of
the first metatarsal, the heel will evert to neutral as the first
metatarsal head drops off the block and is allowed to plantar
flex (Fig. 38-5).55 With time, the varus deformity becomes

A B
C D
E
fixed and does not correct when the block test is
performed.
The surgical correction of the cavovarus foot in patients
with CMT can be divided into two components—deformity
correction and rebalancing of deforming muscle forces (Fig.
38-6). When done early in the disease in young patients,
soft tissue surgery consisting of plantar fascia release or
extensive plantar release, including capsulotomies with
tendon transfer, may be sufficient to postpone or avoid
triple arthrodesis.*
*References 35, 198, 220, 229, 258, 268, 272, 282, 292.
CHAPTER 38  Disorders of the Peripheral Nervous System e289
FIGURE 38-3  Pes cavovarus in a 12-year-old girl with Charcot-
Marie-Tooth disease. A, The longitudinal arch of the foot is
elevated, and there is clawing of the great toe (hyperextension
of the metatarsophalangeal joint and flexion of the
interphalangeal joint). B, Hindfoot varus of the right foot is
apparent. C, A callus is present over the base of the fifth
metatarsal. D, Clawing of the lesser toes is present bilaterally.
E, Pressure is abnormally distributed, with excess loading along
the lateral border of the foot, on the first metatarsal head, and
on the tips of the claw toes.
Dynamic pedobarography has shown that operative
treatment, even when the foot deformity is corrected, may
not correct abnormal foot pressure patterns, especially
increased heel pressure, which was correlated with a
decrease in ankle power generation.47 These residual abnor-
mal pressure patterns may cause persistence of symptoms,
and the patient and parent(s) should be informed of this
before surgery.
Tendon transfers used in CMT include transfer of the
posterior tibialis tendon to the dorsum of the foot and
transfer of the peroneus longus to the peroneus brevis to
decrease the plantar flexion of the first ray. The anterior
e290 SECTION VI  Neuromuscular Disorders
tibialis tendon is not transferred because it is usually weak
in this disease. Proximal metatarsal osteotomy of the first
metatarsal alone or of multiple metatarsals corrects plantar
flexion of the forefoot in patients who have flexible varus
hindfeet.96,198,229,268,330 Care must be taken when performing
a proximal first metatarsal osteotomy in a young patient
because the open physis is located proximally.
Transfer of the posterior tibialis tendon through the
interosseous membrane to the dorsum of the foot may be
performed to decrease hindfoot varus and provide ankle
dorsiflexion. Weakness of the tibialis anterior leads to a
steppage gait and foot drop during swing phase in patients
with CMT. Although the posterior tibialis is considered a
stance phase muscle, transfer of the posterior tibialis has
FIGURE 38-4  Standing lateral radiograph of the foot of a
14-year-old girl with Charcot-Marie-Tooth disease and cavovarus
deformity. The Meary angle is increased (20 degrees) and there is
parallelism of the talus and calcaneus, demonstrated by the ability
to “see through” the subtalar joint. The calcaneus is dorsiflexed
relative to the tibia.
FIGURE 38-5  Coleman block test. The heel of the foot and lateral border are placed on a wooden block, allowing the head of the first
metatarsal to drop into plantar flexion. If the hindfoot varus is secondary to the tripod effect of the plantar flexed first ray, the hindfoot
will correct to neutral or valgus alignment (middle). If the hindfoot varus is rigid, it will not correct (right).
been performed in this patient population with some
success (see Plate 39-1).205
When fixed cavovarus deformities are present, bony
surgery, such as calcaneal osteotomy, midfoot dorsal closing
wedge, or dome osteotomy, is recommended (Figs. 38-7
and 38-8).333 Although triple arthrodesis has been discour-
aged in patients with CMT, it may be preferable to midfoot
osteotomy, which can lead to arthrosis because of the
need to cross multiple joints with the osteotomy.105 In
severe deformity, a triple arthrodesis may be necessary
to restore a plantigrade foot (Fig. 38-9).108 Careful plan-
ning of wedges to be resected during the triple arthrodesis
is necessary to correct the complex hindfoot and midfoot
deformities because the lack of normal protective sensa-
tion may lead to poor results over time if residual defor-
mity persists.
Despite frequent residual deformity and poor objective
results, patient satisfaction with triple arthrodesis has been
reported to be high (85% to 95%) at intermediate and long-
term follow-up. Long-term follow-up studies have found
deteriorating results, likely because of progressive weakness
and degenerative changes in a neighboring joint, especially
the ankle joint.5,189,201,231,235,266
Cavus feet in CMT are difficult to treat because the
progressive neuropathy leads to a significant rate of recur-
rence of deformity after all forms of surgery.105,220 A long-
term follow-up study (26 years) of 25 adults who were
treated for flexible cavovarus deformities with first meta-
tarsal osteotomy and selected muscle transfers has reported
that degenerative changes and reoperations were less fre-
quent than after triple arthrodesis, even though almost all
patients had recurrence of some hindfoot varus.327
Patients with CMT often walk on their toes, and it is
tempting to perform an Achilles tendon lengthening proce-
dure in these patients. It is important to note that the
forefoot is in equinus in CMT and the calcaneus usually is
not, as evidenced by lack of calcaneal plantar flexion or
normal calcaneal pitch on standing lateral radiographs of the
foot. Therefore, lengthening of the Achilles tendon is not
advised. In addition, when a plantar release is performed, a
cast is used to maintain dorsiflexion of the forefoot.
2 cm 2 cm

Step 1. Deformity correction
Plantar flexed first
Global interior cavus metatarsal with
± hindfoot varus correctable
hindfoot varus
1. PFR
1. PFR
2. Multiple metatarsal
or mid-tarsal osteotomy 2. First metatarsal
osteotomy
3. ± calcaneal osteotomy
Step 2. Rebalancing of deforming
muscle forces
Dorsiflexion weakness
EDL transfer or posterior
tibial tendon transfer
FIGURE 38-6  Algorithm for treatment of cavus foot deformity in the pediatric patient with Charcot-Marie-Tooth disease. EDL, Extensor
digitorum longus; PFR, plantar fascia release. (Redrawn from Olney B: Treatment of the cavus foot: deformity in the pediatric patient with
Charcot-Marie-Tooth, Foot Ankle Clin 5:314, 2000.)
Manipulating the foot into dorsiflexion in the presence of a
surgically lengthened Achilles tendon usually leads to over-
lengthening of the Achilles tendon and loss of correction of
the forefoot equinus.
Weakness in the ankle dorsiflexors also leads to the
development of claw toes because the intrinsic muscles are
paralyzed and contracted and the toe extensors are recruited
to help dorsiflex the ankle. When the condition is symp-
tomatic, a Jones transfer of the extensor tendons of the
great and lesser toes can help relieve pain on the dorsum of
the toes. The long toe extensors are inserted through bone
into the necks of the metatarsals so that they help dorsiflex
the ankle rather than clawing the toes.96 Fusion of the IP
joint of the great toe and of the proximal IP joints of the
lesser toes helps prevent flexion deformity of the toes and
should be done concomitantly with extensor tendon
transfer.
Hip
A second orthopaedic problem seen in patients with CMT
is hip dysplasia (Fig. 38-10).86,225,323 It has been proposed
that subtle weakness in the proximal musculature leads to
progressive dysplasia of the hip. Although there are rare
cases of hip instability in newborns with CMT, subluxation
and acetabular dysplasia are usually asymptomatic until ado-
lescence, when pain and gait abnormalities may occur.47,165,225
Early recognition and appropriate treatment are essential to
avoid serious morbidity associated with the condition.47
CHAPTER 38  Disorders of the Peripheral Nervous System e291
Plantar flexed first Severe, stiff cavovarus
metatarsal with deformity not
uncorrectable correctable with other
hindfoot varus options
1. PFR
1. PFR
2. First metatarsal
osteotomy 2. Triple arthrodesis
3. Calcaneal osteotomy
Overpowering peroneus
Hindfoot equinus
longus muscle
Peroneus longus
Achilles tendon
to peroneus brevis
lengthening
tendon transfer
Surgical treatment, consisting of varus osteotomy of the
femur or an acetabular redirectional osteotomy such as the
Steel osteotomy or Bernese periacetabular osteotomy, has
been useful in these patients in our practice.311 The treat-
ment of teenagers with CMT requires correction of the
acetabular and femoral components of the dysplasia and is
similar to the treatment of adolescent idiopathic hip dys-
plasia outlined in Chapter 16 (Fig. 38-11). However, the
treatment of the acetabular dysplasia in the CMT popula-
tion may be associated with a higher rate of major and minor
complications.303
Spine
Scoliosis is seen in up to 37% of adolescents with CMT.324
Curves may resemble idiopathic curves in location but
usually have increased thoracic kyphosis, unlike idiopathic
scoliosis, which is typically lordotic (Fig. 38-12).60,151 There
is also an increased incidence of left-sided thoracic curves
in patients with CMT. Patients at highest risk for scoliosis
are girls and those with CMT-1.324
Orthotic management rarely is successful, and the pre-
scription of a spinal orthosis should be considered in view
of the patient’s other orthotic needs and ambulatory abili-
ties.151 Posterior spinal fusion surgery may be needed if
orthotic management fails and the curves are progressive.118
Spinal cord monitoring of somatosensory evoked potentials
is usually impossible because of the peripheral neuropathy,
so an intraoperative wake-up test may be necessary in
e292 SECTION VI  Neuromuscular Disorders

D E

F G
FIGURE 38-7  A to C, Bilateral residual pes cavovarus in a 15-year-old boy with Charcot-Marie-Tooth disease after transfer of the posterior
tibialis to the dorsum of the foot, plantar fascia release, and first metatarsal osteotomy. A, Bilateral hindfoot varus is present. B, The
longitudinal arch remains elevated, and there is clawing of the second through fifth toes. C, A callus is present on the lateral aspect of the
plantar surface of the left foot because of excessive pressure. D to G, Clinical appearance of the foot at 18 years of age, after calcaneal
osteotomies and Jones transfers. D, Varus has been improved but is not obliterated. E, The longitudinal arch is restored to normal. F, The
toes lie in neutral alignment after Jones transfers and proximal interphalangeal joint fusions. G, Distribution of weight across the sole of
the foot has improved.
 CHAPTER 38  Disorders of the Peripheral Nervous System e293

A B

C
FIGURE 38-8  A and B, Radiographs of an 11-year-old child with cavovarus feet secondary to Charcot-Marie-Tooth disease. The hindfoot
varus was inflexible. C and D, Postoperative radiographic appearance. Surgery consisted of a calcaneal osteotomy, first metatarsal
osteotomy, plantar fascia release, and peroneus longus to peroneus brevis transfer.
e294 SECTION VI  Neuromuscular Disorders

A B

C D

E F
FIGURE 38-9  A to C, Standing radiographs of a 13-year-old boy with Charcot-Marie-Tooth disease. Severe cavovarus is present bilaterally.
D to F, Photographs reveal clawing of the toes, excessive lateral plantar pressure, and elevation of the arch of the foot.
 CHAPTER 38  Disorders of the Peripheral Nervous System e295

G FIGURE 38-9, cont’d  G and H, Triple arthrodesis was

performed.

A B

FIGURE 38-10  Radiographic appearance in a 17-year-old girl with

Charcot-Marie-Tooth disease and symptomatic left hip dysplasia.
A, Preoperative radiograph. B, Postoperative radiograph obtained after
C a Steel osteotomy and varus derotation osteotomy. C, At 6-month
follow-up, the patient was asymptomatic.
e296 SECTION VI  Neuromuscular Disorders
A B
FIGURE 38-11  A, Anteroposterior radiograph of the pelvis in a
14-year-old boy with Charcot-Marie-Tooth disease type 1A. Left
hip dysplasia is evidenced by the break in the Shenton line and
a decreased center edge angle. B, The false-profile view shows
anterior deficiency. C, A Ganz periacetabular osteotomy was
performed.
A B
FIGURE 38-12  Scoliosis in a 14-year-old with Charcot-Marie-Tooth
disease. A, Anteroposterior view. B, Lateral view demonstrates
increased thoracic kyphosis.
C
patients with sufficient lower extremity strength.151,163 Sur-
gical fusion does not appear to be associated with a high
rate of complications in patients with CMT, but a long
instrumented posterior fusion usually is necessary.151 A
subset of patients with CMT may have thoracic hyperky-
phosis without scoliosis.324
Hand
Manifestations.  Hand involvement also occurs in patients
with CMT, but intrinsic muscle atrophy and weakness
usually become symptomatic later in the course of the
disease.206 The onset of hand symptoms can occur in the
first decade or as late as 30 years of age. The appearance
of hand involvement may lag behind the appearance of
lower extremity symptoms by 8 years.39 One study,
however, has found that hand involvement is present in
all children with CMT-1A, even in its earliest stages.40
A delay in the recognition of hand problems may delay
rehabilitation, which becomes more difficult with age
because of worsening of day to day problems, such as
poor handwriting, weakness, pain, and sensory symptoms.
Approximately 75% of children have only mild hand
involvement, 20% have hand problems severe enough to
require daily rehabilitation, and approximately 5% have
problems so severe that independence in activities of daily
living (ADLs) is compromised.322 Patients with significant

upper extremity weakness are at risk for weakness of the
respiratory muscles as well.212
Intrinsic weakness with clawing of the ring and small
digits occurs first. Intrinsic paralysis of muscles innervated
by ulnar and median nerves is common, whereas muscles
innervated by the radial nerve are usually spared. Weakness
of the forearm musculature innervated by median and ulnar
nerves also occurs.185
Treatment.  Reports of treatment to augment upper limb
function in patients with CMT have not been widely pub-
lished. Although nerve conduction velocities are typically
slowed, this appears to be a problem intrinsic to the nerve
and is not caused by a compressive neuropathy. Thenar
muscle wasting and increased median motor and sensory
nerve latencies in this diagnosis are not indicative of carpal
tunnel syndrome. A carpal tunnel release, therefore, may
not relieve symptoms.
The specific functional problems related to the intrinsic
weakness of the hands include loss of opposition of the
thumb, loss of side to side pinch, and clawing of the fingers
(Fig. 38-13). Surgical procedures to augment function are
available to take advantage of donor tendons that are
unlikely to deteriorate with time or to use bony procedures
to correct the deformity. Electrodiagnostic evaluation of
potential donor muscles for tendon transfers can help select
the best muscle. Opponensplasty using the extensor carpi
ulnaris or extensor indicis proprius can greatly increase pre-
hension.231 Transfers to augment side pinch use the radially
A B
C
CHAPTER 38  Disorders of the Peripheral Nervous System e297
innervated extensor pollicis brevis, abductor pollicis longus,
or the extensor indicis proprius routed to the first dorsal
interosseous or adductor pollicis. Transfers that do not
require pulleys are preferred and where a pulley is neces-
sary, it should be static and not another tendon or tendon
loop because of the potential for deterioration.335
Arthrodesis of the thumb metacarpophalangeal (MCP)
joint or carpometacarpal joint can predictably stabilize one
of the unstable motion segments. Intrinsic transfer proce-
dures build in flexion at the MCP joint to help balance the
extrinsic metacarpal extensors. Flexor digitorum superficia-
lis looped around the A1 pulley, as described by Zancolli,
or metacarpal capsulodesis, restores a more useful posture
to the hand.344
Performing an upper extremity tendon transfer proce-
dure in a young patient should be considered cautiously.
Because hand deformities are likely to progress and because
aftercare for the tendon transfers requires protection from
excessive abuse, it may be best to wait until the patient
reaches an age at which he or she understands the limita-
tions of what can be done and what is expected of him or
her afterward.
Hypertrophic Interstitial Neuritis
(Dejerine-Sottas Disease)
Dejerine-Sottas disease, also known as HMSN III, is a
severe, infantile-onset, demyelinating polyneuropathy.
Dejerine and Sottas described this chronic familial
FIGURE 38-13  A, Intrinsic atrophy in a child with Charcot-
Marie-Tooth disease. B, There is clawing of the long and ring
fingers and wasting of the thenar and hypothenar musculature.
C, Functional problems include loss of thumb opposition and
pinch.
e298 SECTION VI  Neuromuscular Disorders
polyneuropathy in 1893.65 It belongs in the family of
HMSNs and is related to but more severe than CMT
disease.49
Dejerine-Sottas disease was traditionally thought to be
inherited in an autosomal recessive pattern, but molecular
genetic research has shown autosomal dominant inheritance
in many patients.227,252,293,306,318 Mutations in the genes
coding for MPZ on chromosome 1, PMP22 on chromosome
17, and periaxin on chromosome 19, as well as in early
growth response 2 genes, have been demonstrated in
patients with this disease and in patients with CMT.†
Whereas CMT-1A is caused by a duplication of the
PMP22 gene, Dejerine-Sottas disease can be caused by a
point mutation of the same gene.
Pathology
Peripheral nerves are enlarged as a result of the proliferation
of perineural and endoneural connective tissue. Classic
onion bulb formation is seen on cross section of nerve
biopsy specimens because of demyelination and remyelin-
ation of the surviving axons, with Schwann cell prolifera-
tion.236,342 There is a lower density of myelinated fibers.224
Muscle biopsy reveals atrophy.
Clinical Features
Although the disease can present in the newborn period as
respiratory failure, the usual presenting complaint is poor
gait in a child younger than 3 years.7 A history of delayed
walking is present. The child is ataxic and unsteady, falls
frequently, has difficulty climbing stairs, and cannot run.
Sensory disturbances such as paresthesias may occur.
Physical examination reveals weak floppy feet. Deep
tendon reflexes are absent or markedly reduced. Sensory
loss involves all modalities of sensation and occurs in a
stocking-glove pattern. Proprioception is disturbed, and
Romberg’s sign is positive. Nystagmus and slurred speech
occur in some patients.
The gait is similar to a steppage gait. Muscle weakness is
seen distally, and pes cavus occurs at an early age. Paralysis
of the intrinsic muscles of the hand appears later. Flexion
contractures of the wrist and fingers occur in late childhood.
Scoliosis develops in early adolescence.
Diagnosis
The diagnosis is usually made by genetic testing for
known mutations. Results of electrodiagnostic studies are
notably abnormal because the nerve conduction velocity is
markedly prolonged, even more so than in CMT.17,72,316
EMG shows fibrillation in the stimulated muscle caused by
denervation.
Cerebrospinal fluid (CSF) shows an elevation in total
protein. Blood cell counts are within normal ranges. Labora-
tory measurements of serum aldolase and creatine phospho-
kinase levels are normal.
MRI of the spine is performed to rule out an intraspinal
tumor. Enlargement of the spinal nerves, cauda equina, and
sciatic nerve can be seen in older patients with Dejerine-
Sottas disease.45,188,194,298
†
References 29, 114, 192, 223, 236, 316, 329.
Nerve biopsy and muscle biopsy may be needed to
confirm the diagnosis.
Prognosis and Treatment
The disease progresses slowly. In mild cases the neuropathy
may plateau and life expectancy may be normal. Many but
not all of the patients lose the ability to walk in early adult-
hood.87 Death in childhood has been described in severe
cases.29
There is no specific treatment. Corticosteroids are
reported to improve the condition and may be tried in
severe cases or during acute exacerbations. Orthopaedic
management usually consists of prescribing orthoses to
improve gait. Pes cavus may require surgical reconstruction.
Carpal tunnel syndrome has been reported in this patient
population.320 Scoliosis may progress and require orthotic
management or surgery. Spinal cord and cauda equina com-
pression have been reported in patients with Dejerine-
Sottas disease as a result of hypertrophy of the nerve
roots.43,62,156
Refsum Disease
Refsum disease (HMSN IV), also known as heredopathia
atactica polyneuritiformis, is a rare disorder of lipid metabo-
lism characterized by peripheral neuropathy, retinitis pig-
mentosa, cerebellar ataxia, and increased protein in the
CSF.248,291 Other clinical findings may include cataracts and
cardiac arrhythmias.54 The condition is one of the inherited
peroxisomal disorders and is caused by a defect in phytanoyl–
coenzyme A (CoA) hydroxylase, the enzyme responsible for
the degradation of phytanic acid, a dietary branched-chain
fatty acid.139,140,290 This results in an accumulation of phy-
tanic acid in the blood and tissues. The abnormal fatty acids
are incorporated into cell membranes and lead to axonal
degeneration and demyelination.238 As is the case with the
vast majority of enzyme deficiencies, the disease is inherited
in an autosomal recessive pattern. The gene responsible for
Refsum disease has been mapped to chromosome 10, and
infantile Refsum disease has been linked to the peroxin
PEX gene.204,238
There are two clinical presentations of the disease. In the
infantile form, hypotonia and developmental delay are first
noted. Growth retardation, mental retardation, hepato-
splenomegaly, and retinitis pigmentosa then develop.273
Abnormalities in peroxisomal function are present in the
infantile type.237,257,326 Peroxisomes are organelles involved
in the metabolism of lipids critical to the functioning of the
nervous system.38
In the classic form of Refsum disease, symptoms develop
between 4 and 7 years of age. The gait becomes unsteady,
and the limbs weaken as the distal musculature atrophies.
Deep tendon reflexes are absent, and there is no spasticity.
The Babinski reflex is absent, but the Romberg sign may be
present. Vibration and position sense in the legs may be
disturbed. Ophthalmologic changes may be present, and
deafness is seen in some patients. Hepatosplenomegaly
occurs because of the fatty accumulation.
The skeletal changes in Refsum disease include osteope-
nia, mild epiphyseal dysplasia (especially in the knees and
elbows), and shortening and deformity of the tubular bones

in the hands and feet.235,325 Pes cavus may result from the
peripheral neuropathy.
The diagnosis is made by documenting increased serum
phytanic acid levels. Carriers can be detected by a phytol
loading test.119 Nerve biopsy shows onion bulb formation
and fatty deposits. Motor nerve conduction velocities are
slow. CSF protein levels are increased.
Conditions from which Refsum disease must be distin-
guished include Friedreich ataxia, the other rare inherited
ataxias, and peroneal muscular atrophy. Retinitis pigmen-
tosa is seen only in Refsum disease.
Treatment of both forms of Refsum disease is first
dietary, with avoidance of foods that contain phytanic
acid.254 Low phytanic acid intake is achieved by restricting
fat while allowing free amounts of fruit and green vegeta-
bles.59 Medical treatment by plasmapheresis can lower the
phytanic acid levels, especially during acute attacks.6,93,130,331
Cascade filtration, a procedure resembling plasmapheresis,
similarly lowers the serum phytanic acid level while avoid-
ing loss of albumin and decreasing the loss of immunoglobu-
lins.104 The main indication for plasma exchange is a severe
deterioration in the patient’s clinical condition. A lesser
indication is failure of dietary management to reduce the
plasma phytanic acid level.109 Lowering the serum phytanic
acid level can improve clinical symptoms of ataxia and
weakness.
Congenital and Acquired Analgia
In children, indifference to pain, termed analgia, may be
congenital or acquired. Congenital analgia may be one of
the following types:
1. Congenital insensitivity to pain
2. Familial dysautonomia, also known as Riley-Day
syndrome
3. Congenital sensory neuropathy
4. Hereditary sensory radicular neuropathy
5. Congenital insensitivity to pain with anhidrosis
Acquired indifference to pain may be caused by syringomy-
elia, spinal cord tumor, or diabetes mellitus. The differential
diagnosis of absent pain perception in a child is presented
in Table 38-3.
Physical examination should assess the different sensory
modalities. The physician should assess for temperature
sensation with cold and warm items, for light touch sensa-
tion, and for deep pain sensation. Deep pain may be tested
by applying firm pressure to the bones or muscles and by
assessing the response to insertion of needles. It may be
difficult to assess small children accurately but if pain is felt,
the pulse rate, respiratory rate, and blood pressure will rise,
and the pupils will dilate. It is important to try to determine
whether a painful stimulus is not felt at all or whether the
stimulus is felt but not perceived as painful.
Radiographic evaluation is rarely diagnostic, but MRI of
the brain and spinal cord should be done to assess for patho-
logic processes such as syringomyelia or tumor.
Finally, nerve conduction studies of the motor and
sensory nerves should be performed. Often a nerve and
muscle biopsy is necessary to confirm the diagnosis. Skin
CHAPTER 38  Disorders of the Peripheral Nervous System e299
biopsy may be helpful in cases with anhidrosis and to assess
for dermal innervation.
Congenital Insensitivity to Pain
This rare disorder is characterized by the absence of subjec-
tive and objective responses to noxious stimuli in patients
with intact central and peripheral nervous systems.64,305
Temperature and touch sensation are preserved.123 The
onset of disease is at or shortly after birth. The cause is
unknown. The cutaneous nerve endings in the skin and
periosteum are normal in congenital insensitivity to pain.183
Nerve biopsies in childhood are normal, although it is
suspected that the condition may be caused by a sensory
neuropathy and that pathologic changes may be seen in
adulthood.172 Substance P, a nociceptive cytokine protein,
is absent in the synovial fluid in individuals with congenital
insensitivity to pain.67 One case report has associated con-
genital indifference to pain with terminal deletion of the
long arm of chromosome 10.148 The disease may be inher-
ited in an autosomal recessive pattern81 but is usually
sporadic.169
As soon as the teeth erupt, the condition becomes
evident from the child’s biting her or his tongue, lips, and
fingers. Burns and bruises do not elicit crying. Corneal
damage can be caused by trauma and foreign bodies in the
eye. Intelligence is normal.
The orthopaedic manifestations of the disease vary
among patients.99 Traumatic fractures are common and,
because of the lack of pain, may go unrecognized for pro-
longed periods, resulting in malunions or pseudarthroses
(Fig. 38-14). Multiple neglected fractures in patients with
burns and bruises may lead to confusion of this condition
with child abuse.287 Epiphyseal separations may occur in
infancy and may resemble rickets radiographically. Avascu-
lar necrosis of the talus, femoral head, or femoral condyles
may occur. Recurrent dislocation of the hip that is refrac-
tory to cast management has also been described in patients
with congenital insensitivity to pain.253
Repetitive trauma to the joints can lead to effusion,
hemarthrosis, synovial hypertrophy, and ligamentous laxity.
A Charcot joint may be the end result, particularly in
weight-bearing joints such as the ankle and knee (Fig.
38-15).103 Increasing laxity can lead over time to dislocation
of the involved joint.183 Surgical treatment is rarely success-
ful, and conservative treatment with protective orthoses is
advised (Fig. 38-16).99 Septic arthritis is also seen with
increased frequency in these patients. Some patients with
congenital insensitivity to pain have required amputation for
treatment of their Charcot or septic joints.100 It is important
to anticipate and prevent neuropathic joints in these chil-
dren. Patient and parent education in joint protection and
surveillance for injury is the most important component of
the treatment plan for these children.183
Spinal manifestations of congenital insensitivity to pain
include instability caused by the development of Charcot-
like changes from neuropathic arthropathy of the spine and
scoliosis.131,232 Radiographs initially show disk space narrow-
ing, facet arthropathy, and hypertrophic spurs. With time,
osteopenia, fragmentation, large osteophytes, and sublux-
ation can be seen.232 Flexion-extension lateral radiographs
 e300

Table 38-3  Differential Diagnosis of Congenital and Acquired Analgia Syndromes

Hereditary Familial Sensory Acquired Sensory
Congenital Congenital Sensory Sensory Radicular Neuropathy With Neuropathy (Toxic,
Parameter Insensitivity Familial Dysautonomia Neuropathy Neuropathy Anhidrosis Infectious) Syringomyelia

Heredity None Recessive None, occasionally Dominant Recessive None None

dominant
Age at onset Birth Birth Birth Early adolescence Birth Adult Young adult
Physiologic pain Present Absent Absent Absent Absent Absent Absent
reactions
SECTION VI  Neuromuscular Disorders

Touch perception Normal Normal Lost Lost Normal Normal Normal

Temperature Normal Diminished Lost Lost Diminished Normal Normal
perception
Distribution of Universal Incomplete Islands of normal Legs and feet, Islands of normal Legs and feet, Arms and hands
sensory loss sensation occasionally sensation occasionally hands
hands
Axon reflex Normal Absent Absent Absent Absent Absent Normal
Nerve Normal Normal Sensory absent, Sensory absent, Sensory absent, Motor and sensory Normal or slightly
conduction motor present motor present motor present abnormal reduced
Motor strength Normal Normal Normal Normal Normal Weak (atrophied) Weak (atrophied)
Sensory nerve Normal Absence of fungiform No myelinated No myelinated Myelinated fibers Loss of myelinated Normal
biopsy papillae on tongue fibers fibers present fibers
Skin biopsy Normal Normal No nerve endings; — Normal Degeneration of nerve Normal
no cholinesterase Normal cholinesterase
Brain and other Normal Normal Normal Normal Normal; absence Normal Normal
Autonomic nervous of Lissauer
system—lack of tract and small
lacrimation; excessive dorsal root
perspiration; axon
poor temperature control
Intelligence Normal Dull to average Dull to average Normal Defective Normal Normal

Adapted from Winkelmann RK, Lambert EH, Hayles AB: Congenital absence of pain: report of a case and experimental studies, Arch Dermatol 85:334, 1965.
 CHAPTER 38  Disorders of the Peripheral Nervous System e301

B C D E
FIGURE 38-14  A, Radiographs of a right forearm showing nonunion of fracture in the middle third of the ulna in a 4-year-old with
congenital insensitivity to pain. After immobilization in an above-elbow cast for 3 months, there was no evidence of healing. Thus, an
open reduction, intramedullary fixation with a Steinmann pin, and onlay bone grafting were performed. B and C, Radiographs of the
forearm obtained 3 months after surgery. D and E, Radiographs obtained 1 year later, showing progressive healing of the fracture.

can demonstrate instability. Patients may present with neu-
rologic deficits, and surgical fusion (posterior or combined
anteroposterior) has been successfully performed in small
numbers of patients with congenital insensitivity to pain
(Fig. 38-17).68,131
Osteomyelitis is seen more frequently than in the
general population, probably as a result of neglected foci of
infection, such as dental abscesses and bitten fingers. The
most frequent sites are the fingers and toes. Osteomyelitis
is usually indolent and chronic rather than acute in
presentation. Aspiration for cultures should be undertaken
whenever infection is suspected. Wide surgical débridement
is usually necessary.11
Familial Dysautonomia (Riley-Day
Syndrome; Hereditary Sensory and
Autonomic Neuropathy Type III)
This disturbance in pain perception is the result of an auto-
somal recessive trait and is the most common of the
e302 SECTION VI  Neuromuscular Disorders

A B

C D
FIGURE 38-15  A, Charcot knees in an 8-year-old boy with congenital insensitivity to pain. Anteroposterior (B) and lateral (C) radiographs
obtained at age 16 years show destruction of joint with multiple loose bodies. D, Charcot changes at the ankle are also present at age
16 years.
 CHAPTER 38  Disorders of the Peripheral Nervous System e303

E F
FIGURE 38-15, cont’d  E, Clinical appearance of the lower extremities. F, Self-inflicted ulcerations of the tongue.

A B C
FIGURE 38-16  A and B, Clinical appearance of a 15-year-old boy with congenital insensitivity to pain, bilateral Charcot knees, and
insensate wounds on his feet. C, Treatment consisted of a knee-ankle-foot orthosis to protect the knees.
e304 SECTION VI  Neuromuscular Disorders

A B C D
FIGURE 38-17  A, Posteroanterior spine radiograph of an 8-year-old boy with congenital insensitivity to pain. B and C, The patient
underwent anteroposterior spinal fusion for treatment of scoliosis. D, At 14 years of age, an amputation of his left great toe was
performed because of chronic ulceration and osteomyelitis.

hereditary sensory and autonomic neuropathies.121 It is

usually seen in patients of Ashkenazi Jewish descent; the
carrier frequency in this population is 1 in 30.251 The genetic
locus has been mapped to chromosome 9q31.27,150,285 It
is believed that incomplete maturation of unmyelinated
neurons in the sensory, sympathetic, and parasympathetic
systems may be responsible for the disease.251 Infants
present with lack of tears (alacrima), excessive perspiration,
labile blood pressure, abnormal gastrointestinal motility, and
poor temperature control. A characteristic lack of fungiform
papillae on the tongue is seen. Speech development is fre-
quently delayed, and the patients usually are of subnormal
intelligence. Walking is delayed, and gait is ataxic because
of lack of normal proprioception.
Neurologically, patients with familial dysautonomia have
diminished temperature and vibration sensation but pre-
served touch perception.121 They have a lack of objective
response to painful stimuli. Deep tendon reflexes are absent.
Orthopaedic manifestations are the same as in those
with congenital insensitivity to pain and include fractures,
Charcot joints, and osteomyelitis. In a study of 182 patients
with Riley-Day syndrome, 60% had sustained fractures and
11% had one or more neuropathic joints, most commonly
the knee.171 Foot deformity is seen in a subset of the
patients.
Limited atlantooccipital and cervical sagittal range of
motion has been identified in patients with familial dysau-
FIGURE 38-18  Posteroanterior radiograph of the spine of a boy
tonomia.117 Scoliosis is seen in up to 90% of children with with Riley-Day syndrome. Note the right hip dislocation and
Riley-Day syndrome and can be extremely difficult to severe scoliosis.
manage (Fig. 38-18).150 Most patients are diagnosed with
scoliosis before 10 years of age.115 Curves tend to be rigid

and may also exhibit significant kyphosis, unlike the defor-
mity seen in idiopathic scoliosis. Left thoracic curves are
common in this group of patients. Orthotic management
usually fails. In 89% of 65 braced patients with Riley-Day
syndrome, orthotic management of their scoliosis failed.115
When preparing a patient for spinal fusion, a preoperative
nutritional evaluation should be performed to rule out mal-
nutrition and reflux with aspiration. Posterior spinal fusion
with instrumentation is usually recommended for the treat-
ment of scoliosis in patients with Riley-Day syndrome, but
combined anterior and posterior spinal fusion with instru-
mentation has been advocated for patients with kyphosco-
liosis.260 Fusion should extend to the proximal thoracic
spine to decrease the likelihood of junctional kyphosis.11
Patients are prone to autonomic dysfunction while anesthe-
tized, with wide swings in blood pressure.255 Intraoperative
fatal cardiac arrest has been described in these patients.342
After surgery, monitoring in an intensive care setting is
necessary. The patient should be immobilized after surgery,
and a thoracolumbosacral orthosis (TLSO) is preferred over
a cast because of the tendency for unrecognized skin break-
down beneath the nonremovable cast.118,260 Treatment com-
plications are very common in this patient population and
range from infection to wound breakdown to failure of fixa-
tion.4 The patients do not notice loss of fixation caused by
hook pullout because of the lack of painful sensation.
Instrumentation should be planned to maximize bone pur-
chase to decrease the likelihood of loss of fixation because
high rates of proximal instrumentation failure have been
reported in these patients.10,117
Life expectancy is decreased, with many patients dying
from pulmonary infections.342 In one study, the probability
that a child born after 1982 would reach the age of 30 years
was 50%, whereas another study found that the mean age
at the time of death in patients with Riley-Day syndrome
was 23 years.9,171 Cause of death is most frequently related
to pulmonary compromise as a result of aspiration and
pneumonia.10
Congenital Sensory Neuropathy
Congenital sensory neuropathy is a very rare, nonprogres-
sive disease that is usually inherited as an autosomal reces-
sive trait. In this disorder, touch, temperature, and pain
sensation are absent.8,13 Motor nerve conduction is normal,
but sensory nerve conduction is absent. Nerve biopsy shows
the absence of myelinated nerve fibers and dermal nerve
networks. The brain and spinal cord are normal. Deep
tendon reflexes are diminished or absent. Retinitis pigmen-
tosa may be present. There is an association with mental
retardation and deafness.
Hereditary Sensory Radicular Neuropathy
(Hereditary Sensory and Autonomic
Neuropathy Type I)
This autosomal dominant disorder is characterized by a
primary degenerative neuropathy of the dorsal root
ganglia.66,314 The disorder is inherited as an autosomal domi-
nant trait on chromosome 9.215 All sensory modalities are
lost, but there is no disturbance of sweating. Deep tendon
reflexes in the lower extremities are absent. This disorder
CHAPTER 38  Disorders of the Peripheral Nervous System e305
usually presents in the second or third decade of life, unlike
the previously discussed disorders, which manifest in
infancy. The sensory changes begin distally in the lower
extremities and progress proximally. Rarely does the neu-
ropathy extend proximal to the knees. Owing to the lack
of protective pain and temperature sensation, severe neu-
ropathic foot ulcers are frequently seen in these patients.199,278
Paradoxically, although sensation is disturbed, severe neuro-
pathic pain is frequently present.164
Congenital Insensitivity to Pain
With Anhidrosis (Hereditary Sensory
and Autonomic Neuropathy Type IV)
This neuropathy, also known as familial sensory neuropathy
with anhidrosis and as hereditary sensory and autonomic
neuropathy type IV, is characterized by the absence of tem-
perature and pain sensation but intact touch perception.234
Sweating is absent because of the lack of eccrine sweat
gland innervation.135 The inability to sweat leads to prob-
lems with body temperature regulation and hyperpyrexia.
The disease is present from birth and affects the entire
body.196
The disease is inherited as an autosomal recessive trait.
It is most common in Israeli Bedouins.280 Molecular genetic
research has suggested that the gene responsible for con-
genital insensitivity to pain with anhidrosis is the TRKA
gene on chromosome 1, which encodes for a tyrosine kinase
receptor for nerve growth factor.132,133
Electron microscopy has revealed mitochondrial abnor-
malities in muscle biopsy specimens of patients with con-
genital insensitivity to pain with anhidrosis.73 Nerve
histopathologic studies have shown a loss of the small
myelinated and unmyelinated fibers.299 Results of EMG and
nerve conduction velocity studies are variable and may show
slow conduction and decreased amplitudes, especially in the
sensory nerves. Results of the sympathetic skin response
test are abnormal.283 Skin biopsy reveals lack of epidermal
and sweat gland innervation.32 Radiographs show evidence
of fractures, joint deformity and dislocation, avascular
necrosis, osteomyelitis, and acro-osteolysis.271
Systemic findings include mental retardation, and self-
mutilating behavior is frequently a problem.21 Patients bite
their tongues and extract their own teeth.6 Corneal ulcer-
ations occur as a result of lack of protective sensation.336
Orthopaedic manifestations are the same as in the other
sensory neuropathies, with fracture, nonunions, deformity,
Charcot joints, and osteomyelitis seen.102,162,166,196,297 In
comparison to hereditary sensory and autonomic neuropa-
thy (HSAN) type III, in which osteonecrosis is the initial
lesion preceding destructive arthropathy, HSAN type IV is
most commonly associated with Charcot arthropathy of
joint subluxation and dislocation, with the Charcot arthrop-
athy affecting both sides of the joint and leading to collapse
and fragmentation.83 Recurrent hip dislocation has been
described in this patient population that was refractory to
conservative treatment with a Pavlik harness. Open reduc-
tion with femoral osteotomy failed to prevent redisloca-
tion.111,160 The merit of operative reduction in these patients
is questionable. Cardiac complications during anesthesia
have been described, and temperature regulation in the
operating room must be monitored.259,308
e306 SECTION VI  Neuromuscular Disorders

The inability to sweat renders affected patients suscep-

tible to high fevers when the environmental temperature is
high. Death from hyperpyrexia occurs in up to 20% of
patients with congenital insensitivity to pain with anhidrosis
by 3 years of age.271

Lesch-Nyhan Syndrome
Lesch-Nyhan syndrome is a rare congenital disorder of
purine synthesis characterized by self-mutilating and aggres-
sive behavior, mental retardation, choreoathetosis, and
hyperuricemia.177 The frequency of this syndrome has been
estimated to be 0.18/100,000 live births.197 The syndrome
is caused by the absence of hypoxanthine guanine phospho-
ribosyltransferase (HPRT). It is inherited as an X-linked
recessive trait and, therefore, is seen in boys.76 The gene
locus on the X chromosome has been identified.61,274,301
Most boys with Lesch-Nyhan syndrome are initially mis-
diagnosed with athetoid cerebral palsy because of the rarity
of the condition and presence of choreoathetosis.289 The
diagnosis is made by determining the blood uric acid level,
which is elevated in Lesch-Nyhan syndrome. The blood uric
acid level should be determined in the diagnostic evaluation
of all children with suspected congenital insensitivity to
pain. Uric acid crystals are also seen in the urine of affected
patients.218 Prenatal diagnosis by the measurement of HPRT
or molecular genetic testing is possible.3,98,195,337
A decrease in large myelinated fibers has been seen
on sural nerve biopsy in a patient with Lesch-Nyhan
syndrome.221
Affected boys exhibit self-injurious behavior, most com-
monly biting the lips and fingers. Dental extraction has been
performed to reduce the self-mutilation.79 Although self-
injurious behavior is rarely the presenting feature of the
illness, it eventually develops in almost all cases. The emer-
gence of the behavior often provides the essential clue to
the diagnosis in a case with known developmental delay or
hyperuricemia.143
A multicenter international study of the largest cohort
of patients to date has found that the most prominent
feature of the motor syndrome in all patients is dystonia.143
Essentially, all parts of the body were affected. Multidirec-
tional cervical dystonia was universal. Truncal twisting and
arching was present in all, particularly with efforts to stand.
Dystonia of the upper limbs prevented their use for most
tasks such as feeding or grasping in all patients. All these
patients regularly used wheelchairs because lower limb dys-
function prevented them from walking or standing unas-
sisted. Oromandibular and lingual dystonia were evident
during speaking or eating in most. Several also exhibited
blepharospasm, most prominently during ocular testing;
some developed fixed abnormal postures of the hands or
feet, and fixed contractures of the hamstring muscles with
incomplete extension at the knee were common. Muscle
hypertrophy resulting from long-standing dystonia was
evident in several patients in the neck and arms. No studies
have delineated the natural history of Lesch-Nyhan disease,
but available evidence has suggested a stereotypical pattern
of progression, with hypotonia and developmental delay
early in the first year of life. Other involuntary movements
emerge later, between 6 and 24 months of age. Once
established, significant progression of the severity of the
FIGURE 38-19  Supine radiograph of a 17-year-old boy with
Lesch-Nyhan syndrome. There is a left hip dislocation and
scoliosis. A baclofen pump has been implanted for tone
management.
motor syndrome with further aging is uncommon, although
progression of disability from long-standing dystonia
becomes more apparent—for example as contractures or
scoliosis.143
Hip subluxation and dislocation were seen in 50% of hips
in one study (Fig. 38-19).289 Surgical treatment with muscle
release, femoral osteotomy, and pelvic osteotomy, when
needed, was successful. Postoperative heterotopic ossifica-
tion was common.289
In addition to the classic clinical syndrome, patients with
less severe disease and partial syndromes have been recog-
nized.142 In these milder variants, self-injury may not occur,
cognition may be normal, or dystonia may be mild or even
absent. Some may have overproduction of uric acid and its
consequences alone. These patients are identified by the
overproduction of uric acid caused by HPRT deficiency.
Collectively, they are referred to as Lesch-Nyhan
variants.142
There is no treatment for this disease at present, but
research is directed at bone marrow transplantation and
potential gene therapy.74,180
Syringomyelia
Syringomyelia, defined as a cerebrospinal fluid (CSF)-filled
dilation of the central canal of the spinal cord, is the most
common spinal cord anomaly that can lead to an acquired
sensory neuropathy. Presenting signs and symptoms in chil-
dren with syringomyelia are most commonly scoliosis, with
or without back pain, and sensory disturbances, usually in
the upper extremities. Decreased pain sensation may be
present in the arms and hands, but temperature sensation
is usually normal. Unlike in most of the congenital forms
of insensitivity to pain, motor weakness in the upper

extremities may accompany the sensory changes seen in
patients with syringomyelia.99
Charcot neuropathic joints do not commonly occur in
the upper extremities, but when a Charcot joint is present,
it is usually the result of syringomyelia. There is a predilec-
tion for destruction of the shoulder.103,112,147 Neuropathic
joint changes are rarely seen in the hands, but diminished
sensation in the hands may result in self-injurious behavior
such as multiple burns. Diminished sensation on the trunk
in a bandlike dermatomal distribution may be seen. Motor
findings are present, and clawing of the hand may be noted
on physical examination. Asymmetry of the abdominal
reflexes may support the diagnosis of syringomyelia.
Radiographic findings include scoliosis, which may be
upper thoracic in location or convex to the left. Curves
caused by syringomyelia are notable for their lack of typical
apical lordosis seen in idiopathic curves, with some of the
curves exhibiting true kyphosis in the sagittal plane.80,222,288
A radiographic study of 87 children and adolescents with
syringomyelia has found atypical curve patterns in almost
50% of them.242 The authors suggested that atypical curve
patterns, atypical features in typical curve patterns, and a
normal to hyperkyphotic spine may suggest the need for
MRI evaluation before surgery and that kyphosis may be
indicative of progressive scoliosis. Spinal radiographs may
also reveal congenital scoliosis—patients with congenital
vertebral malformations have been found to have a higher
incidence of intraspinal abnormalities, such as syringomy-
elia.295 The diagnosis of syringomyelia is established by
spinal MRI (Fig. 38-20).
Symptomatic syringomyelia is treated by neurosurgical
posterior fossa decompression or by shunting.120 Sensory
changes usually resolve, although the scoliosis may persist,
progress, and require treatment in up to 50% of cases (see
Fig. 38-20).50,80,309 A retrospective review of 20 patients
with syringomyelia and scoliosis has concluded that early
diagnosis and treatment of a syrinx in scoliosis patients,
before the age of 10 years, are crucial and may decrease
curve size and limit curve progression.339 At our center, we
usually treat small asymptomatic syringomyelias by neuro-
surgical observation. A study of 13 patients with syringo-
myelia who had scoliosis surgery reported 48% correction;
however, 3 patients progressed significantly following ante-
rior surgery and 4 patients progressed more than 10 degrees
after arthrodesis. The authors cautioned that fusion levels
should be carefully chosen, and the underlying pathology
should be kept in mind.36 Scoliosis surgery appears to be
safe in these patients with treated syrinx when spinal cord
monitoring or wake-up tests are used.
Guillain-Barré Syndrome
(Acute Polyradiculoneuritis)
With poliomyelitis approaching eradication in most of the
world, Guillain-Barré syndrome (GBS) is the most common
cause of acute flaccid paralysis in children.12,219 This rare
disease is characterized by symmetric motor and sensory
paresis of the limbs and, at times, the trunk. The paralysis
may ascend rapidly and involve the muscles of respiration
and the cranial nerves. The disease was first described by
Landry in 1859170 but was further described by Guillain,
CHAPTER 38  Disorders of the Peripheral Nervous System e307
Barré, and Strohl in 1916.101 GBS is rare, with an incidence
of 0.84 to 1.91 cases/100,000 population 15 years of age
or younger.200,239,246,284 It is more common in the older adult
population, with an incidence of 3.3/100,000/yr in indi-
viduals older than 50 years.200
Cause and Pathophysiology
The disease is autoimmune and directed against the periph-
eral nervous system myelin, axon, or both.77 GBS has been
divided into three subtypes—acute inflammatory demyelin-
ating polyradiculoneuropathy (AIDP), a more severe acute
motor axonal neuropathy (AMAN), and a mixed variant.302
The disease is triggered by a preceding bacterial or viral
illness51,94,106; therefore, patients present most frequently
in winter when upper respiratory infections are more
common.129 A study of 56 children diagnosed with GBS has
found that upper respiratory infection is the most frequent
preceding event and limb weakness is the most frequent
symptom at the onset of the disease.176 Functional status at
nadir was found to be more important than electrophysio-
logic findings in predicting long-term outcome. One fre-
quently identified cause of GBS is Campylobacter jejuni
infection.127
The possibility of a vaccination leading to GBS has been
investigated, but no cause and effect relationship has been
proved.28,154,173,244,315 An 8-year study in the United Kingdom
that included almost 2 million patients found no association
between immunization and GBS.126 Although some data
from the Centers for Disease Control and Prevention
(CDC) have indicated a small increased risk of GBS after
meningococcal conjugate vaccination, the CDC continues
to recommend routine vaccination for adolescents, college
freshmen living in dormitories, and other populations at
increased risk because of the morbidity and mortality asso-
ciated with meningococcal disease.46
The pathophysiology of the AIDP subtype is an acute
demyelinating process. The posterior nerve roots and
ganglia, proximal portion of the peripheral nerves, and ante-
rior nerve roots are involved. Pathologic findings in sural
nerve biopsies show demyelination and lymphocytic infiltra-
tion in the AIDP form and normal or few degenerating
fibers in the AMAN variant.181 In severe cases the peripheral
nerves undergo wallerian degeneration.
Diagnosis
The CSF shows a characteristic increase in protein level,
with a normal cell count (i.e., without pleocytosis). The
increase in CSF protein levels peaks at 2 to 4 weeks and
then declines.
Nerve conduction is delayed in the motor and sensory
nerve fibers. Sensory evoked potentials are absent or
decreased.37 Subtypes of the disease have been described
based on electrical diagnostic studies.310
MRI of the spine shows thickening of the cauda equina
and nerve roots. There is enhancement of the intrathecal
spinal nerve roots with gadolinium.59,137 Enhancement
diminishes as the clinical symptoms improve.57 The differ-
ential diagnosis includes acute poliomyelitis, transverse
myelitis, tick paralysis, toxic neuropathy, infantile spinal
muscular atrophy, and myasthenia gravis.145,209,247,340
e308 SECTION VI  Neuromuscular Disorders

A B C

D E F
FIGURE 38-20  A, Posteroanterior radiograph of the spine of a 15-year-old girl with scoliosis measuring 52 degrees. B, Lateral radiograph
reveals increased thoracic kyphosis (which is atypical for idiopathic scoliosis). C and D, Foot radiographs reveal a right foot deformity.
E, Magnetic resonance imaging shows an extensive syrinx. F, After neurosurgical decompression and shunting, the curve progressed.

G H
FIGURE 38-20, cont’d  G, Clinical appearance of the patient. H and I, Radiographs after uneventful posterior spinal fusion with
instrumentation. A wake-up test was performed because intraoperative neurologic monitoring was not possible because of lack of signal
before incision.
Clinical Features
There is variation in the mode of onset, severity of motor
and sensory involvement, and distribution of paresis. Ante-
cedent symptoms include fever, cough, sore throat, or diar-
rhea.158 Patients may be seen in the emergency department
or by a pediatric orthopaedist with acute deterioration in
gait or inability to walk. They may also complain of acute
severe leg or back pain, and therefore may be referred to
the orthopaedic surgeon.138,191 Because the child may ini-
tially present with an inability to walk, and because the
paralysis can rapidly ascend, leading to death, it is impera-
tive for the pediatric orthopaedic surgeon to be aware of
this rare disease.
Paralysis is usually symmetric and more marked distally
than proximally. The deep tendon reflexes are diminished
or absent. Motor weakness is usually accompanied by some
sensory disturbance, which varies widely. Bowel and bladder
involvement may be seen in severe cases. Cranial nerve
involvement is most frequently seen in the facial and acces-
sory nerves. Occasionally papilledema may be present.
Tachycardia and hypertension may be seen.56 Intelligence is
usually preserved.
Treatment
Treatment is managed by the pediatric neurologist. Patients
are immediately admitted to the hospital and monitored for
autonomic and respiratory involvement.145 Intubation and
mechanical ventilation may be necessary in some patients.
CHAPTER 38  Disorders of the Peripheral Nervous System e309
I
Plasma exchange or intravenous immune globulin
(IVIG) shortens the duration and severity of the disease
significantly when started early in the course of the
disease.77,126,141,168,186,341 IVIG treatment has been shown to
decrease hospital days and decrease the number of patients
who require mechanical ventilation.161 Repeated plasma-
pheresis works in GBS by removing the pathogenic autoan-
tibodies. The use of IVIG is based on the theory that it may
inactivate specific antimyelin antibodies and inhibit their
production indirectly.270 The administration of IVIG has
gained favor because of its simplicity and similar clinical
results, with clinical improvement noted within 1 to 2.4
days in various series.1,3,216 The number of IVIG infusions
necessary to obtain the best results is unknown, but one
study has recommended a total empiric dose of 2 g/kg
administered over 2 consecutive days; relapse may occur 2
to 3 weeks posttreatment.161,276,343 Treatment with com-
bined selective plasmapheresis and IVIG administration is
not beneficial.128 The efficacy of plasmapheresis or IVIG
therapy in established severe disease has been debated.97,248,277
Corticosteroids have not been proven effective for the
treatment of GBS; however, combined methylprednisolone
and IVIG has been reported to shorten the time needed to
regain independent walking.276,319
The paralyzed limbs are exercised with physical therapy
to maintain motion, and orthoses are used as needed to
position the joints. When the child regains the ability to
walk, orthoses may be helpful to provide support. Tendon
transfer or arthrodesis may be useful in the treatment of
the child with permanent neurologic deficits, but surgery
e310 SECTION VI  Neuromuscular Disorders
should be delayed at least 2 years after the onset of the
disease to allow for any return of function.22,95
Prognosis
The clinical course varies with the type and severity of
disease.110,136 Overall, recovery is more rapid and complete
in the pediatric population.129 Patients with the AMAN
form are usually younger, have more rapid clinical deteriora-
tion, have a higher incidence of respiratory failure, and
experience slower recovery.226 In patients with mild involve-
ment, complete recovery may occur within a few months.
In severe forms, recovery may take up to 2 years, and there
may be residual paralysis. Mild long-term muscle weakness
has been documented in up to 23% of children with GBS,
but this rarely affects functional activities.317 In very severe
cases, all voluntary musculature may become paralyzed, and
death may rarely occur from respiratory arrest or pneumo-
nia.174 The need for mechanical ventilation has been cor-
related with high CSF protein levels and cranial nerve
involvement.245,266 Death from cardiac arrhythmias caused
by autonomic nervous system involvement has also been
described.34
In a multicenter study of 175 patients between 11
months and 17.7 years of age, 26% of patients remained
able to walk, but 16% had to be mechanically ventilated at
the peak of neurologic involvement. The median time from
onset of symptoms to the first sign of recovery was 17 days,
to walk unaided, 37 days, and to complete resolution of
symptoms, 66 days. There was a large group with a benign
course and a smaller group with a more protracted course.
At long-term follow-up, 98 of 106 patients were free of
symptoms and the remainder were able to walk unaided.159
Sciatic and Peroneal Nerve Palsy
The sciatic nerve is made up of the tibial and peroneal divi-
sions. The peroneal division is most prone to palsy because
of its more superficial anatomic location. The common
peroneal nerve is most likely to suffer injury within the
fibular tunnel—that is, between the proximal fibular neck
and tendinous origin of the peroneus longus.261,304
Causes
A common cause of sciatic nerve injury in infants and chil-
dren is an intramuscular injection of antibiotics or other
medications into the gluteal region. The medication is
injected into or adjacent to the nerve as it exits from the
sciatic notch and is crossed by the piriformis muscle. The
child may be emaciated and have gluteal atrophy or may be
a well-nourished child who is kicking at the time of the
inoculation.24,58,167,321 Children younger than 5 years are
most at risk.82
Parenteral administration of medications through the
umbilical vessels in a newborn may also cause thrombosis
or vasospasm of the inferior gluteal arteries and damage
the sciatic nerves. The buttock skin may slough in this
situation.63,92,241,281
Other causes of sciatic nerve palsy include trauma (e.g.,
posterior dislocation of the hip or acetabular fracture) and
stretch incurred during femoral lengthening or reduction of
developmental dislocation of the hip.122,146,155 The sciatic
nerve may also be injured during pelvic osteotomies such as
the Salter innominate osteotomy, Chiari osteotomy, or
Bernese periacetabular osteotomy.16,84,240,303 Sciatic nerve
palsy has been described after intramedullary nailing of the
femur and as a result of stretch incurred during hamstring
lengthening in children with cerebral palsy and knee flexion
contractures.7,152 Finally, the sciatic nerve may be injured
during a difficult obstetric delivery or as a result of a pen-
etrating missile injury (e.g., gunshot wound).78,144,267,300
Peroneal nerve palsy has been described as being caused
by the presence or resection of proximal fibular osteochon-
dromas, after proximal tibial osteotomy for angular defor-
mity, or caused by direct compression in patients with
anorexia nervosa.42,178,184,233,286 Patients undergoing applica-
tion of external fixation for tibial lengthening may also
develop peroneal nerve palsy, which may be discovered
intraoperatively with the use of somatosensory evoked
potential monitoring.89,187 Peroneal nerve palsy has been
documented in patients who had early spica cast application
for the treatment of femoral shaft fractures and in patients
who underwent delayed nailing of shortened femur frac-
tures.250,332 Peroneal nerve palsy has also been seen in the
presence of a perineuroma of the nerve, a rare benign
growth present in and around the substance of the nerve.116
Clinical Features
In sciatic nerve injury resulting from an injection, an acute
inflammation of the intraneural and perineural tissues
develops first. Destruction of the axons and disappearance
of the myelin sheath follow, with eventual fibrosis of the
nerve.
Grossly, the nerve appears withered and fibrotic. The
nerve becomes adherent to the surrounding fatty and mus-
cular tissues, and there is local hypervascularity.
Loss of motor function and sensory disturbances occur
immediately after injection of or injury to the nerve. Usually
there is intense local and referred pain in the distribution
of the nerve in cases of injection injury, and there may be
local gluteal tenderness.
If the peroneal nerve division of the sciatic nerve is
selectively involved, dorsiflexion of the ankle and toes and
eversion of the ankle are lost, and sensation over the lateral
aspect of the calf and the dorsum of the foot is absent. If
the tibial component of the nerve is injured as well, the
entire foot will be anesthetic and the ankle will be flail. The
neurologic injury is maximal immediately after injury, and
the paresis remains static or slowly improves. Atrophic
changes in the lower extremity mirror the severity of the
nerve deficit. Muscle wasting, atrophic skin changes, and
decreased bone growth with leg length inequality should be
anticipated.
Radiographic Findings
Routine radiographic studies should be performed to rule
out fracture of the lesser trochanter, posterior hip disloca-
tion, and heterotopic ossification when these entities are
suspected. MRI of the sciatic nerve can show inflammation
or transection in the case of iatrogenic laceration of the

nerve. MRI is also useful in establishing the presence of
lesions within the nerve, such as a ganglion, neurofibroma,
or perineuroma.
Treatment
Prevention is the most important approach regarding sciatic
and peroneal nerve palsies. Surgical retraction must be
gentle, especially in cases of proximal tibial osteotomy for
angular correction.286 Surgeons must remain aware of the
effect of hip flexion and knee extension on the tension
within the sciatic nerve during surgical procedures such as
lengthening the hamstrings in a child with cerebral palsy.33
The use of intraoperative electrophysiologic monitoring
during acetabular fracture surgery and pelvic osteotomy
remains controversial.107,240
It is crucial to prevent sciatic nerve palsy resulting from
gluteal injections. Tachdjian has outlined the following pre-
ventive measures:
1. Intramuscular (IM) injections in the anterior and lateral
portions of the midthigh should be made in the quadri-
ceps muscle.
2. If multiple IM injections must be given, rotate them
from the right to left sides.
3. Inject into the upper outer quadrant of the buttock if
the gluteal site must be used.
4. Use an assistant to immobilize the kicking child, and
observe the site of injection at all times.
5. Pick up the muscle with one hand and perform the injec-
tion with the other.
6. Control the depth of penetration and do not use long
needles.
7. Double-check the site of injection before and after
administering the medication.
8. If repeat injections are necessary, consider an intravenous
route of administration.
As soon as a neurologic injury is suspected, thorough
documentation of the extent of the deficit is imperative.
The neurologic examination is repeated monthly. The prog-
nosis for recovery is good when the paralysis is incomplete
initially and when a monthly examination reveals improve-
ment in motor function.
Medical treatment generally begins with the prescription
of pain medication (usually narcotics) to treat the dysesthe-
sias and pain. Medications to stabilize the membrane of the
injured nerve, such as gabapentin, may be used to decrease
the hyperesthesia felt during nerve recovery.
If there is no improvement in motor or sensory function
3 months after injury, electrical studies should be performed
to document the status of the nerve. Nerve conduction
velocities may delineate early recovery from complete
palsy.85 Tachdjian has recommended exploration of the
sciatic nerve in children with complete palsy 3 months after
injury and in children whose neurologic recovery remains
incomplete and who have significant functional limitations
because of residual deficits 12 months after injury. When
intraoperative nerve action potential recordings indicate
distal transmission of signal, neurolysis may be helpful for
regaining motor and sensory function.157
Grafting the damaged sciatic nerve by using the sural
nerve has been studied in adult and pediatric populations
CHAPTER 38  Disorders of the Peripheral Nervous System e311
with sciatic nerve injury. It was found that young pediatric
patients have the best chance of recovering motor function
after sural nerve grafts.313 Protective sensation improves
more than motor strength in these patients, but 50% of the
children were able to decrease their reliance on orthoses for
ankle stability.312 Recovery in the tibial division of the nerve
occurs more often than recovery in the peroneal division
after surgery.157
Similarly, if peroneal nerve function fails to recover by 3
to 6 months after the onset of the palsy, or if nerve lacera-
tion is suspected as the cause of the palsy, surgical explora-
tion of the nerve is merited, with sural nerve grafting as
needed.207,334 Mont and colleagues have recommended per-
forming the studies at 3 months if the palsy persists, with
operative exploration in the fourth month if recovery is not
seen. Their results indicated a faster and more complete
recovery after exploration and neurolysis.207
Supportive orthopaedic care consists of the prescription
of ankle-foot orthoses for treatment of the flail ankle or foot
drop. In patients with permanent peroneal nerve palsy,
anterior transfer of the posterior tibialis tendon through the
interosseous membrane to the middorsum of the foot may
restore some dorsiflexion, or at least serve as a tenodesis
and improve the steppage gait from the foot drop.249,256
Although clinical results are usually good, only 30% of ankle
dorsiflexion power, as measured by dynamometry, is
restored with this transfer.338
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 C H A P T E R 3 9 
Muscle Diseases
Chapter Outline
Muscular Dystrophies
Myotonic Dystrophy
Metabolic Diseases of Muscle
Polymyositis and Dermatomyositis
Myositis Ossificans
Progressive Fibrosis of the Quadriceps
Myasthenia Gravis
Muscular Dystrophies
Overview
The muscular dystrophies are a group of genetically deter-
mined, progressive diseases of skeletal muscle (Table 39-1).
Muscular dystrophies are not inflammatory and thus are
classified as myopathies rather than as myositis. By defini-
tion, pathologic changes occur within the muscle fibers
themselves, but innervation of the muscle is normal, and
the peripheral nerves are also normal.
Historical Background
The first documentation of muscular dystrophy was pro-
vided by Meryon in 1852 when he described a family in
which progressive atrophy and weakness of the muscles
developed in four boys during childhood.182 Even though
autopsy revealed degeneration of muscle, Meryon still con-
fused the condition with progressive neurologic atrophy.
In 1868 Duchenne characterized the entity as a muscle
disease of childhood or adolescence, most commonly seen
in boys, that is typified by progressive weakness of the
muscles, beginning in the lower limbs and spreading to
the trunk and arms; enlargement (pseudohypertrophy) of
the weakened muscles; hyperplasia of interstitial connective
tissue; and an increase in fat cells in the affected muscles.64
Duchenne also noted that the changes occurred only in the
muscles; no pathologic changes were evident in the nervous
system.
In 1879 Gowers described the classic clinical sign of a
patient “climbing up the legs” (Fig. 39-1) and later delin-
eated another form of muscular dystrophy that affected
primarily the distal musculature.95,96 Limb-girdle, facioscapu-
lohumeral, and myotonic dystrophies were all described in
the late 1800s.73,74,152
Classification
The classification of progressive muscular dystrophy that is
most relevant from clinical and genetic standpoints is the
system proposed by Walton (Box 39-1).277,278
e320
Lori A. Karol
Etiology
Significant advances in molecular genetic research have
helped establish the cause of the primary progressive mus-
cular dystrophies. The gene responsible for Duchenne mus-
cular dystrophy is located on the Xp21 region of the X
chromosome and spans 2 million base pairs.119,149 One third
of all cases of Duchenne muscular dystrophy occur as a
result of spontaneous mutation.244 The Xp21 region of the
X chromosome encodes for dystrophin, a 400-kilodalton
protein present in skeletal, smooth, and cardiac muscle and
in the brain.127 Dystrophin is critical to the stability of the
cell membrane cytoskeleton. Boys with Duchenne muscular
dystrophy have mutations that disrupt the translational
reading frame or the promoter region of DNA, thereby
resulting in a lack of dystrophin.
Becker muscular dystrophy, which is a more benign
form, occurs in males and is transmitted in an X-linked
recessive manner, similar to Duchenne muscular dystrophy.
The gene responsible for Becker muscular dystrophy is the
same gene that encodes dystrophin. However, boys with
Becker muscular dystrophy have in-frame mutations that
result in the production of low-molecular-weight dystro-
phin or lower amounts of normal-molecular-weight dystro-
phin.119 Genetic testing has revealed that 60% to 80% of
children with Duchenne or Becker muscular dystrophy have
demonstrable mutations or deletions of the dystrophin
gene.24,227
Dystrophin is not abnormal in other forms of muscular
dystrophy. The gene locus for Emery-Dreifuss muscular
dystrophy is located on the long arm of the X chromosome
at Xq28.34,57,286 This gene encodes for emerin, a protein that
is present in the nuclear membranes of skeletal and cardiac
muscle.163 Even though dystrophin is normal in Emery-
Dreifuss syndrome, emerin is absent.
The gene associated with myotonic dystrophy is located
on chromosome 19. This disease is epitomized by expansion
of a sequence of three nucleotides: cytosine, thymine, and
guanine. The number of repeats of this trinucleotide (CTG)
increases as the gene is passed to subsequent generations,
and the clinical manifestations of myotonic dystrophy
become more severe with an increasing number of repeats.
Thus, anticipation is characteristic of the phenotype of the
disease, with children of affected mothers exhibiting greater
severity.
The locus for facioscapulohumeral dystrophy is located
on chromosome 4 at the 4q35 region.21,280
Pathology
The pathologic changes in muscles are similar in all forms
of muscular dystrophy.116 Yet each disease is a separate
entity based on its genetic transmission, age at onset, clinical
course, distribution of involvement, and results of molecu-
lar genetic testing.
The most important histologic feature of muscular dys-
trophy is loss of muscle fibers, which is caused by segmental
 CHAPTER 39  Muscle Diseases e321

Table 39-1  Clinical Features of Principal Types of Muscular Dystrophy

Clinical Features Duchenne Becker Emery-Dreifuss Limb-Girdle Facioscapulohumeral

Incidence Most common Less common, but Uncommon Less common Not common
not rare
Age at onset Usually before 3 yr; Usually after 7 yr Variable (usually Variable (usually in
some between 3 by second second
and 6 yr decade, decade)
occasionally
later)
Sex prevalence Male Male Male Either sex Either sex
Inheritance X-linked recessive X-linked recessive X-linked recessive Autosomal Autosomal dominant
recessive
Responsible gene Xp21 region of X Xp21 region of X Xq28 region of X Located on 4q35 region of
chromosome chromosome chromosome chromosome chromosome 4
15 and
responsible for
production of
calpain 3
Pattern of muscle Proximal (pelvic and Proximal (similar to Humeroperoneal Proximal (shoulder Face and shoulder
involvement shoulder girdle Duchenne type, distribution and pelvic girdle; later
muscles affected but loss of girdle, spreads spreads to pelvic
early; spreads to muscle strength to periphery girdle
periphery of is slower) late)
limbs late in
course)
Muscles spared Gastrocnemius, toe Similar to Duchenne — In upper Back extensors,
until late flexors, posterior type extremity, iliopsoas, hip
tibial, hamstrings, brachioradialis abductors,
hand muscles, and hand; in quadriceps
upper trapezius, lower
biceps, triceps, extremity, calf
face, jaw, muscles
pharyngeal,
laryngeal, and
ocular
Pseudohypertrophy 80% of cases (calf Same as Duchenne — Less than 30% of Rare
muscles) cases
Contractural Common Common in severe Common Develop late in Mild, occur late
deformities cases; less course; less
common in severe than in
milder cases Duchenne type
Scoliosis and Common in late More common in Does occur but Mild in late stage Mild, occur late
kyphoscoliosis stage severe cases may
self-stabilize
Cardiac Hypertrophy and Electrocardiographic Cardiomyopathy, Very rare Very rare
involvement tachycardia abnormalities most
common; in late common; dilated commonly
stages, cardiomyopathy manifested as
widespread in high heart block
degeneration, percentage of
fibrosis, and fatty patients; mitral
infiltration regurgitation and
heart failure seen
in late stages
Intellectual level Commonly Normal Normal Normal Normal
decreased
e322 SECTION VI  Neuromuscular Disorders

FIGURE 39-1  Gowers sign: a patient with hip extensor weakness “walks” his hands up his legs to raise his trunk to an upright position.

Box 39-1  Walton’s Classification of The histopathologic findings vary with disease severity.
Progressive Muscular Dystrophy Fiber necrosis, splitting, phagocytosis, and fatty replace-
ment are most pronounced in Duchenne muscular dystro-
PURE MUSCULAR DYSTROPHIES phy. In later-onset dystrophies (e.g., distal muscular
X-linked recessive inheritance dystrophy), fiber size variation, fibrosis, and central nucle-
Duchenne ation are more common. In myotonic dystrophy, a unique
Becker finding of rows of central nuclei and annulets is sometimes
Emery-Dreifuss seen. Histochemistry often reveals a predominance of small
Autosomal recessive inheritance
type I fibers.
Scapulohumeral—”limb-girdle”
Early onset in childhood—”Duchenne-like”
Analysis of dystrophin in muscle biopsy specimens has
Congenital become an integral part of the evaluation and diagnosis of
Autosomal dominant inheritance muscular dystrophy.117,118,185 The content of dystrophin in
Facioscapulohumeral muscle biopsy specimens can be determined by immuno-
Scapuloperoneal fluorescent staining with antibodies against parts of the
Late onset proximal dystrophin molecule. Commonly, a Western blot of a
Distal (adult) homogenate of muscle tissue is examined for the presence,
Distal (infantile) amount, and molecular weight of dystrophin.125 An enzyme-
Ocular linked immunosorbent assay is also used to quantify the
Oculopharyngeal
amount of dystrophin.48
DYSTROPHIES WITH MYOTONIA Because dystrophin is absent in the vast majority of boys
Myotonia congenita with Duchenne muscular dystrophy, a definitive diagnosis
Dystrophia myotonica can be made when no dystrophin is present.203 In patients
Paramyotonia congenita with Becker muscular dystrophy, dystrophin is altered in
size, amount, or both. The amount of dystrophin present
has been correlated with the clinical phenotype; specifically,
the age at which the patient loses the ability to walk inde-
necrosis and eventual fragmentation of the fibers (Fig. pendently.202 The presence of normal dystrophin rules out
39-2).1 The size of individual muscle fibers displays marked Duchenne or Becker muscular dystrophy while raising the
variation, with fibers ranging from 10 to 230 µm. In addi- possibility of limb-girdle dystrophy or one of the other less
tion, the arrangement of large and small fibers is random. common forms.
Enlarged, “hypercontracted” fibers may contain abnormally Analysis of dystrophin has also been used in genetic
increased amounts of calcium. The muscle fibers retract testing to help distinguish potential carriers of Duchenne
from their endomysial sheaths, with forking or branching and Becker muscular dystrophy. In some women who are
(“splitting”) of the fibers, which some researchers hypoth- carriers, dystrophin immunostaining has been documented
esize may represent an attempt at regeneration. Necrosis of as abnormal.45,120,168
the muscle fibers is accompanied by phagocytosis and his-
tiocytic proliferation in the areas of necrosis. The sarcolem- Laboratory Findings
mic nuclei are enlarged in regenerating fibers. Interstitial The level of creatine kinase (CK) in blood is elevated in
connective tissue is increased, with substantial infiltration patients with muscle disease and is not specific to the mus-
of adipose tissue.118 cular dystrophies.196 As the muscle cell degenerates, CK is

A 50 m/sec) are usually seen by 6 years of age.
B
FIGURE 39-2  Histologic changes in progressive muscular
dystrophy. A, Transverse section taken from the vastus lateralis
muscle of a 7-year-old boy with early-stage disease (hematoxylin-
eosin, ×400). Note the substantial variation in the size of
individual muscle fibers and retraction of the muscle fibers from
the endomysial sheaths. B, Longitudinal section from an enlarged
gastrocnemius muscle (hematoxylin-eosin, ×250). Note the
accumulation of adipose tissue and reduction in the number of
muscle fibers.
released and serum CK levels can be elevated 20 to 200
times higher than normal.244 Serum CK levels are generally
higher in children with Duchenne muscular dystrophy than
in those with the Becker type; however, the two diseases
do have some overlap, and a distinction cannot be made
simply by measuring serum CK levels. In Duchenne mus-
cular dystrophy, the CK level is elevated in the presymp-
tomatic phase of the disease, falls as the disease worsens,
and approaches nearly normal levels in end-stage disease,
when almost all skeletal muscle has been replaced.54 In
some cases, female carriers of Duchenne muscular dystro-
phy have elevated CK levels; however, genetic counseling
based only on this finding is ill advised.120,169
Aldolase is another enzyme that is elevated in children
with muscular dystrophy. Its course is similar to that of CK:
serum levels are highest in the early phase of the disease,
decline as the disease progresses, and approach normal
CHAPTER 39  Muscle Diseases e323
levels in end-stage disease.54 Serum glutamic-oxaloacetic
transaminase (also known as aspartate transaminase) and
lactate dehydrogenase may also be elevated, but abnormali-
ties in these enzyme levels are nonspecific for muscle
disease.
Electromyography and Nerve Conduction
Velocity
An electromyogram (EMG) can help differentiate myo-
pathic and neuropathic processes. The EMG recording in
patients with muscular dystrophies is distinguished by a
pattern of low-amplitude, short-duration, polyphasic motor
unit potentials.244 Nerve conduction velocity is normal in
patients with muscular dystrophies. It should be noted that
nerve conduction velocity increases with age as myelination
occurs in young children.191,222 Normal adult values (i.e.,
Duchenne Muscular Dystrophy
Etiology and Diagnosis
Duchenne muscular dystrophy, the most common form of
muscular dystrophy, occurs in 1 in 3500 boys.71,244 It is
transmitted in an X-linked recessive fashion whereby all
affected persons are male; females are carriers of the gene.
On very rare occasion, females with Turner syndrome
exhibit the disease because of their XO genotype. Other
rare chromosomal events, such as translocations, can also
result in clinically affected girls.
The first responsibility of the orthopaedic surgeon is to
establish the diagnosis. It may be difficult for an orthopae-
dist to diagnose Duchenne muscular dystrophy at a child’s
initial visit. Duchenne muscular dystrophy and polymyositis
have some similarities, but certain features of the two dis-
eases can help establish the correct diagnosis (Table 39-2).
It is extremely important to diagnose Duchenne muscular
dystrophy as soon as possible because a delay may lead to
further pregnancies in a carrier and the birth of affected
children in an uninformed family.226
Molecular genetic testing has eliminated the need for
muscle biopsy in many patients, but in some cases, muscle
biopsy is still necessary. The vastus lateralis is the usual site
for biopsy. It is important to excise enough muscle so that
dystrophin analysis can be performed in addition to light
microscopy. The muscle sample must not be traumatized;
careful surgical technique is used so that the specimen is not
stretched or crushed, and handling of the specimen should
be minimized. Preoperative consultation with the patholo-
gist is essential so that the tissue is delivered promptly and
not placed in an inappropriate solution. Fresh tissue for
cryostat section is necessary for an accurate diagnosis.
Debate exists whether open biopsy is preferable to
needle biopsy. Special clamps to maintain muscle length
have fallen out of favor as more specific testing of the tissue
has become available. Mubarak and associates found needle
biopsy to be diagnostic in most patients; in addition, it
required less anesthetic and left minimal scarring.194
In utero fetal muscle biopsy has been used to establish
the diagnosis of Duchenne muscular dystrophy following
the diagnosis of one previously affected male in whom no
gene deletion could be identified.109
e324 SECTION VI  Neuromuscular Disorders

Table 39-2  Differential Diagnosis of Duchenne Muscular Dystrophy and Polymyositis

Features Duchenne Muscular Dystrophy Polymyositis

Sex prevalence Males Females

Inheritance Sex-linked recessive None
Pattern of muscle involvement Proximal, much more selective Proximal, sometimes distal
Facial muscle weakness May be present in some forms Almost never
Weakness of neck and back extensors Rare except very late Common
Dysphagia Very rare except terminally Frequent
Muscular atrophy Severe Mild (with tenderness)
Pseudohypertrophy Common Rare
Deep tendon reflexes Preserved until late Preserved longer
Skin changes Not observed Present
Electromyography Short, low-amplitude potentials Short, low-amplitude potentials; fibrillations
Serum enzymes (creatine kinase and Elevated Elevated
aldolase)
Muscle biopsy Variable fiber size degeneration Degeneration and inflammatory cells
Specific treatment None Steroids (definite clinical response if given early
in high dosage)
Prognosis Usually death within 20 yr Spontaneous remission in 80%

Clinical Features
The disease is usually manifested in children between 3 and
6 years of age. The onset of weakness is insidious. Affected
boys may achieve motor milestones at somewhat older ages,
and a slight delay in walking may be noted. Although the
disease is not usually evident until after 3 years of age, the
Gowers sign may be present as early as 15 months.
Initial signs can range from a waddling gait to difficulty
climbing stairs to marked muscle weakness and clumsiness.
In the early stages of the disease, boys may have notable
toe-walking during ambulation. Duchenne muscular dystro-
phy should be considered in any young boy with ankle
equinus and a normal birth history.
The muscle weakness develops symmetrically. Weakness
is noted initially in the proximal musculature, with the hip
extensors often being the first muscles affected. Lower
extremity involvement usually precedes upper extremity
disease by 3 to 5 years. As the disease progresses, contrac-
tures occur predictably in certain muscle groups while
sparing others. Weakness coupled with contractures leads
to deviations in gait.
Ankle equinus is frequently the first sign of Duchenne
muscular dystrophy. Contracture at the ankle leads to toe-
walking and a tendency to hyperextend the knees. Knee
hyperextension locks the posterior capsule of the knee,
thereby augmenting the weak quadriceps and preventing
buckling of the knee. Hip extensor weakness leads to ante-
rior tilt of the pelvis, which results in hyperlordosis of the
lumbar spine during gait.255 The body realigns itself to take
advantage of the stability offered by the hip and knee
joints.124 The hip becomes more stable as the ground reac-
tion force comes to lie posterior to the joint, whereas the
knee gains stability when the ground reaction force is
located anterior to the joint.124,254 Thus, the patient partially
overcomes weakness in the quadriceps by locking the knee
joint via the posterior capsule in full extension (Fig. 39-3).
Muscle weakness is also present in the gluteal muscles
early in the disease and leads to the development of a Tren-
delenburg gait.124,254,255 The stance-phase limb abductors are
not strong enough to hold the pelvis up as the contralateral
limb enters the swing phase. As a result, the child brings
the weight of the upper part of the body over the stance
limb via trunk sway to augment abductor strength (Fig.
39-4). Such compensation results in a waddling appearance
as the trunk sways back and forth over each limb during the
stance phase. The base of the gait also widens in an attempt
to improve stability and avoid falling. Subsequent contrac-
tures of the iliotibial band cause further widening of the
base of the gait.
As the disease progresses and muscle weakness becomes
more pronounced, the stance phase of gait is prolonged and
the swing phase shortens. The child’s cadence decreases as
it becomes more difficult to take steps.255 The amount of
time spent in double-limb support increases as the patient
experiences more difficulty standing on a single limb.
Behavioral studies have shown that patients with Du­­
chenne muscular dystrophy have cognitive impairment with
lower than normal intelligence. Abnormal central nervous
system architecture and loss of neurons, as well as electro-
encephalographic abnormalities, have been documented.10
Physical Examination
Findings on physical examination vary depending on the
stage of the disease. Initially, the only discernible contrac-
ture is in the gastrocsoleus. The muscle belly of the gastroc-
soleus is usually enlarged (termed pseudohypertrophy) (Fig.

Ground
reaction
force
FIGURE 39-3  Typical posture of ambulatory patients with
Duchenne muscular dystrophy. To compensate for a weak
quadriceps and prevent buckling of the hip, the patient locks the
knee joint in full extension. Stability is increased when the ground
reaction force is posterior to the hip and anterior to the knee.
Normal Positive
FIGURE 39-4  Trendelenburg gait. The stance-phase limb
abductors are not strong enough to hold the pelvis up as the
contralateral limb enters the swing phase. As a result, the patient
brings the weight of the upper part of the body over the stance
limb via trunk sway to augment abductor strength. When viewing
the patient from behind, the clinician can see a drop in the
hemipelvis on the side of the non–weight-bearing limb, which
indicates weakness of the gluteal muscles.
CHAPTER 39  Muscle Diseases e325
FIGURE 39-5  In patients with Duchenne muscular dystrophy, the
muscle belly of the gastrocsoleus is usually enlarged (termed
pseudohypertrophy).
39-5). Enlargement results from fibrofatty replacement of
muscle fibers, which is most notable in the gastrocsoleus
muscle and feels like hard rubber. The patient is unable to
fully dorsiflex the ankles.
Careful, complete muscle testing reveals weakness in the
proximal musculature of the lower extremities. Hip abduc-
tor weakness can be demonstrated by having the patient
attempt to stand on one leg. When viewing the individual
from behind during this maneuver, the clinician can see a
drop in the hemipelvis on the side of the non–weight-
bearing limb (Trendelenburg sign), which indicates weak-
ness of the gluteal muscles (see Fig. 39-4). If the examiner
is not sure whether the patient has muscular weakness, the
child should be asked to sit on the floor of the examining
room and then rise quickly to a standing position without
assistance. Difficulty performing such a maneuver leads the
patient to use the arms to push up on the lower extremities
to assist in hip and knee extension while standing up. A boy
with Duchenne muscular dystrophy “walks” his hands up
his legs to raise his trunk to an upright position (Gowers
sign; see Fig. 39-1).96 A second clinical sign is the Meryon
sign182; when the examiner lifts the child by the chest, the
child’s arms abduct and slide through the embrace of the
examiner’s arms because of shoulder girdle weakness.
As the severity of the disease increases, contractures
occur throughout the lower extremities. Abduction con-
tractures of the hips develop because of tightness of the
iliotibial bands. Such contractures can be demonstrated
with the Ober test, which is performed with the child lying
on his side. The leg is abducted, and the hip is extended
and brought into adduction in the extended position.
Abduction contractures in children with Duchenne muscu-
lar dystrophy usually exceed 30 degrees. Ankle equinus
becomes more pronounced, and varus of the hindfoot
appears as the posterior tibialis muscle becomes contracted
(Fig. 39-6). Knee and hip flexion contractures develop as
e326 SECTION VI  Neuromuscular Disorders
the child loses the ability to walk and starts using a wheel-
chair more often. When measuring hip flexion contractures,
the hip must be adducted because the abduction contrac-
ture may mask the severity of the flexion contracture.
Scoliosis appears in late childhood or early adolescence.
It is mild at first but progresses relentlessly in most patients.
The curve is frequently accompanied by an increase in
lumbar kyphosis after the patient starts using a wheelchair.
While in the wheelchair the patient’s trunk lists to the side,
and sitting without the assistance of the upper extremities
becomes progressively more difficult (Fig. 39-7).
In the upper extremities, contractures eventually develop
in the elbow flexors. The patient loses the ability to abduct
the shoulders. Hand function is not usually affected until
FIGURE 39-6  Equinovarus contracture of the foot in a
nonambulatory patient with Duchenne muscular dystrophy.
A B
FIGURE 39-7  A and C, Thirteen-year-old boy with Duchenne muscular dystrophy and scoliosis. Clinical photographs and radiograph (B)
show listing to the right and waist asymmetry.
late in the course of the disease. Boutonnière and swan-neck
deformities develop in the fingers but rarely interfere with
the patient’s ability to use a motorized wheelchair.
Medical Concerns
As the myopathy worsens, the pulmonary and cardiac
systems are affected. The first sign of pulmonary insuffi-
ciency is a reduction in expiratory muscle strength. With
advancing age, pulmonary function steady declines.104
Cardiac changes include right ventricular hypertrophy, sinus
tachycardia, mitral valve prolapse, and diminution of the
QRS wave.20,204 A policy statement has been published that
provides recommendations for cardiac evaluation in boys
with Duchenne muscular dystrophy.9
Treatment
No definitive treatment is available for Duchenne muscular
dystrophy, and the disease is inevitably fatal. Coordinated
multidisciplinary care, including orthopaedic surgery, neu-
rology, pulmonology, cardiology, nutrition, and physical
therapy, focuses on maximizing the child’s function. The
primary goal of early treatment is to help the patient main-
tain functional ambulation as long as possible. When the
patient becomes nonambulatory, management is directed
toward treating scoliosis when it develops and addressing
the problems associated with nonambulation as they occur.
Physical Therapy
Physical therapy is provided to prolong mobility and stretch
the muscles to prevent or minimize contractures. A stretch-
ing program at home, combined with the use of orthoses at
night, can delay the progression of equinus. The patient is
trained in the use of orthoses while still ambulatory.110
Upper extremity weakness generally precludes the use of
C

walkers or crutches. After surgery or fractures, aggressive
mobilization of the patient in a physical therapy setting is
crucial to minimize postoperative weakening of the muscles.
When the child is no longer able to walk, appropriate wheel-
chair seating is prescribed, and the patient is trained in
transfers and use of a motorized chair.
Lower Limb Surgery
As muscle weakness worsens and contractures develop,
walking becomes more labored and unstable, which results
in many falls. Soft tissue surgery can improve gait and
prolong the child’s ability to walk.
Timing of Surgery. The timing of this surgery is controver-
sial.274 Surgery for lower limb contractures in patients with
Duchenne muscular dystrophy has been classified by
Shapiro and Specht (Box 39-2).244
The strongest proponents of early surgery (i.e., per-
formed between 4 and 6 years of age, before contractures
develop) believe that the quality of ambulation without
braces is enhanced and the child’s need for a wheelchair is
delayed.18,81,90,228 However, a randomized trial by Manzur
and associates164 reported no beneficial effect on strength
or function at 12 to 37 months of follow-up. Smith and
colleagues248 found that patients who underwent surgery at
a later age (>10 years) maintained their ability to walk an
average of 2 years longer than did those who did not undergo
surgery, and they were able to stand almost a year after they
lost the ability to walk. With the advent of steroid therapy,
muscle strength is preserved for longer periods and there-
fore early surgery has fallen out of favor.
It is difficult to compare the results of the various studies
of lower extremity surgery in patients with Duchenne
muscular dystrophy. On average, such operations prolong
walking time 2 to 3 years, but the age at which children
who are not treated with steroids lose ambulation varies
from 7 to 16 years (whereas with Becker muscular dystro-
phy, loss of ambulation may occur after 16 years). It may
Box 39-2  Shapiro and Specht Classification
of Contracture Surgery of the Lower Limbs
in Patients With Duchenne Muscular
Dystrophy
• Early-extensive ambulatory approach: release at the hip,
hamstrings, and heel cords and posterior tibialis transfer
before the onset of significant contractures
• Moderate ambulatory approach: rarely includes hip
abductor releases, with surgery being performed while
the child is still able to walk but is experiencing increasing
difficulty
• Minimum ambulatory approach: correction of only equinus
contractures
• Rehabilitative approach: operative intervention after the
child ceases walking but surgery pursued with the goal of
reestablishing ambulation
• Palliative approach: surgical correction of equinovarus after
full-time wheelchair use has begun, with the goals of pain
relief and improved ability to wear shoes
From Shapiro R, Specht L: The diagnosis and orthopaedic treatment of
inherited muscular diseases of childhood, J Bone Joint Surg Am 75:439,
1993.
CHAPTER 39  Muscle Diseases e327
be that the children who were able to walk for the longest
time after surgery had milder disease to start with—that is,
they may have had some dystrophin present—and thus
severe Becker muscular dystrophy should have been diag-
nosed instead of Duchenne muscular dystrophy. A more
accurate diagnosis may be achieved through dystrophin
analysis.244
It is agreed that if the child has already lost the ability
to walk, the operation must be done in a timely manner if
ambulation is to be reestablished.273 Once the patient
becomes nonambulatory, muscle strength is lost quickly. A
small window of opportunity—3 to 6 months—is available
after the child stops walking when surgery can make ambu-
lation possible again in rare instances.248 Operations after
this time do not help the patient walk; however, foot surgery
in a nonambulatory patient can make wearing shoes
possible.
Factors other than age play an important role in deter-
mining the success of tendon surgery in patients with Duch-
enne muscular dystrophy.272 The child’s motivation to retain
walking ability and to cooperate with postoperative bracing
and physical therapy cannot be overlooked. Depression,
which is common in patients in the surgical age group, can
interfere with postoperative care and home exercise pro-
grams. The parents’ motivation must also be taken into
account. Another factor is obesity, which is common in boys
with Duchenne muscular dystrophy68 and is a poor prognos-
tic sign for regaining the ability to ambulate after surgery.38
Techniques. Equinus is managed by percutaneously length-
ening the Achilles tendon.282,286 Varus is treated by surgery
on the posterior tibialis tendon. Some authors recommend
tenotomy or lengthening of the posterior tibialis, but most
advocate anterior transfer of the tendon through the inter-
osseous membrane to the center of the dorsum of the foot
(Plate 39-1).186 This approach not only corrects varus of the
hindfoot but also augments dorsiflexion of the ankle, which
leads to less frequent recurrence of deformity.99,273
Scher and Mubarak reported that patients who under-
went multilevel surgery to prolong ambulation did not
believe that the results were worth the surgery, bracing, and
therapy, and families stated that they would not choose to
do it again.238 However, satisfaction with the status of the
feet after Achilles tendon lengthening and posterior tibialis
tendon transfer was high, and patients who underwent pos-
terior tibialis tendon transfer were more likely to be able to
wear whatever shoes they liked.238 The authors recom-
mended that Achilles lengthening, posterior tibialis tendon
transfer, and toe flexor tenotomies be offered to all boys
with Duchenne muscular dystrophy. It should be noted that
their surgical technique of posterior tibialis tendon transfer
was novel in that the tendon was divided longitudinally
proximal to the fibrocartilaginous insertion and extended in
length by doubling back the divided tendon from the mus-
culotendinous junction. The site of transfer chosen was the
base of the second metatarsal, which necessitated a longer
tendon for transfer.
Another study in which patients who underwent Achilles
tendon lengthening and posterior tibial tendon transfer
were compared with patients who had no foot surgery
found no differences between the two in terms of the ability
to wear shoes, foot pain, and patient satisfaction, although
e328 SECTION VI  Neuromuscular Disorders
FIGURE 39-8  Early physical therapy in long-leg casts immediately
after soft tissue releases in a boy with Duchenne muscular
dystrophy.
FIGURE 39-9  Postoperative lightweight knee-ankle-
foot orthoses used by a patient with Duchenne
muscular dystrophy. A, Braces can be used for
standing and walking. B, When the patient is using A B
a wheelchair, the knees of the braces are unlocked.
greater degrees of equinus were noted in the nonsurgical
group.155 Based on the different results of these two studies,
it can be concluded that foot surgery consisting of tendon
lengthening and transfer can benefit some boys with Duch-
enne muscular dystrophy, but many patients remain asymp-
tomatic despite the presence of contractures. The decision
to perform surgery should be made on an individualized
basis in consultation with the family.
Knee surgery consists of lengthening or tenotomy of the
hamstrings. Abduction contractures of the hips are treated
by resecting the iliotibial band through a proximal Ober
release, with or without a distal Yount resection, or via
fasciectomy of the iliotibial band. Hip flexion contractures
can be improved by release of the sartorius, rectus femoris,
and tensor fasciae latae.98
Postoperative care should include early weight bearing
and ambulation, with the child placed in a standing position
on the first postoperative day (Fig. 39-8). Because every day
of bed rest adds to the child’s weakness, effort must be
made to mobilize the child immediately. Casting should be
limited to below the hips so that the child can take steps
with the cast on. Short-leg casts are preferable when immo-
bilization of the knees is not crucial. When surgery is per-
formed on children 10 years or older, bracing with
lightweight knee-ankle-foot orthoses (KAFOs) is necessary
to prolong ambulation (Fig. 39-9).273 The need for bracing
should be anticipated before surgery so that the orthoses
are ready immediately afterward. Locked-knee KAFOs are
needed postoperatively for ambulation. Many children have
a well-founded fear of falling in their KAFOs because upper
extremity weakness prevents them from breaking the fall.
In children with sufficient arm strength, a walker may be
of assistance.

Spinal Surgery
Scoliosis develops in nearly all children with Duchenne
muscular dystrophy who are not treated medically, and it
becomes increasingly pronounced after the child is nonam-
bulatory.134 Historically, scoliosis developed in one in four
children before becoming nonambulatory.40 Currently, the
use of corticosteroids in boys with Duchenne muscular
dystrophy is reducing the incidence and delaying the devel-
opment of scoliosis. Curves are long and sweeping and are
associated with pelvic obliquity. The pattern of the defor-
mity does not resemble that seen with idiopathic scoliosis;
instead, it is neuromuscular in appearance (Fig. 39-10).
Thoracolumbar kyphosis is commonly present, but lumbar
hyperlordosis may be seen in some boys. If left untreated,
many curves progress beyond 90 degrees. Such curves make
it difficult for the child to sit comfortably and lead to skin
breakdown because the muscle weakness interferes with
the patient’s ability to relieve pressure during sitting.247
Timing of Surgery and Indications. The appropriate treat-
ment of scoliosis is surgical intervention. Bracing has been
tried but is not recommended in this patient population for
several reasons. First, the goal of bracing is to prevent pro-
gression of the curvature during the time of spinal growth,
yet progression occurs in these patients despite bracing.49,55,65
Second, the risk for progression is prolonged because of the
patient’s profound muscle weakness. Third, bracing can
FIGURE 39-10  Long sweeping thoracolumbar curve in a patient
with Duchenne muscular dystrophy.
CHAPTER 39  Muscle Diseases e329
impede full respiratory effort. Pulmonary function is already
precarious in these children, with forced vital capacity
(FVC) decreasing by approximately 4% each year and by
another 4% for each 10 degrees of thoracic scoliosis.150
Because curve progression is the rule rather than the excep-
tion and because pulmonary function deteriorates rapidly
when the patient is no longer able to walk, it is preferable
to perform surgery earlier, when the child’s respiratory
status is functionally better. Delaying surgery because of
brace treatment may make any subsequent operation less
safe as a result of the presence of pulmonary disease.229,252,253
A lesser known reason for early stabilization of scoliosis
is to prevent any subluxation or dislocation of the hip that
may result from the pelvic obliquity. Hip abnormalities,
though rare, have a deleterious effect on balanced seating
of nonambulatory boys with muscular dystrophy.50,53
The indications for spinal fusion to correct scoliosis in
patients with Duchenne muscular dystrophy are different
from those for idiopathic scoliosis. Surgery should be per-
formed once a curve reaches 30 degrees and the patient
is nonambulatory because curve progression is guaranteed
and pulmonary function will deteriorate as the curve
worsens.123,247,251,252 Mubarak and associates recommended
surgery for curves greater than 20 degrees in children whose
FVC is greater than 40% of normal.195 Surgery is best toler-
ated before the patient’s FVC is less than 35% of age-
matched normal values.187 Although surgery has been
performed successfully in children with more advanced
pulmonary disease,166,257 the risk for prolonged mechanical
ventilation and postoperative pneumonia increases. Use of
noninvasive mask ventilation such as bilevel positive airway
pressure (BIPAP) has improved postoperative outcomes in
patients with poor preoperative pulmonary function (i.e.,
FVC <30%).106 Preoperative planning must include cardiac
evaluation242 and pulmonary function tests. If the child’s
projected life span is less than 2 years, surgery may be
contraindicated.256
Techniques. Surgery consists of posterior spinal fusion with
instrumentation. Luque instrumentation with sublaminar
wires provides segmental fixation at each vertebra.160 Rigid
cross-linking of the rods is essential to maintain correction.
Use of a unit rod has also been recommended for posterior
spinal fusion in patients with Duchenne muscular dystrophy
(Fig. 39-11). Good correction of scoliosis and pelvic obliq-
uity with segmental fixation via hook–screw constructs has
also been reported.112 Posterior spinal fusion with segmental
pedicle screw fixation is currently favored by many surgeons
because of improved curve correction and reduced blood
loss in comparison to sublaminar wires (Fig 39-12).16,105
Debate continues about the need to extend the fusion
to the pelvis. Mubarak and associates reported that for mild
curves without preexisting pelvic obliquity, fusion to L5 was
sufficient.195 More recently, Sengupta and co-workers found
that with smaller curves and no preoperative pelvic obliq-
uity, fixation to L5 with lumbar pedicle screws and thoracic
sublaminar wires prevented pelvic obliquity at a 3.5-year
follow-up.239 Most recently, all pedicle screw constructs to
L5 have been shown to maintain correction of severe scolio-
sis with pelvic obliquity as long as L5 tilt measured less than
15 degrees preoperatively.257 Alman and Kim are propo-
nents of fusion to the pelvis in boys with Duchenne
e330 SECTION VI  Neuromuscular Disorders
FIGURE 39-11  Posterior spinal fusion with unit rod
instrumentation for Duchenne muscular dystrophy.
A B
FIGURE 39-12  A and B, Posterior fusion from T2 to the sacrum
using pedicle screw segmental fixation with iliac screws in a boy
with Duchenne muscular dystrophy.
muscular dystrophy.6 In a review of 38 patients with the
pelvis fused to L5, worsening pelvic obliquity occurred in
10 patients, 2 of whom required further spinal surgery.
In clinical practice, most patients have preexisting pelvic
obliquity at the time of treatment of the spinal curvature.
Because one of the primary goals of the operation is to
ensure a level pelvis for comfortable seating, most surgeons
continue to fuse to the pelvis with the Galveston or Dunn-
McCarthy technique or iliac screws (Figs. 39-13 and 39-
14).3,4,39,84,170,184 Marchesi and associates described the use
of sacral screws at S1 in patients with Duchenne muscular
dystrophy rather than Galveston rods between the tables
of the ilium.165 Regardless of the particular technique
used, caudal fixation is recommended to control pelvic
obliquity.
Results and Complications. The effect of spinal fusion and
correction of scoliosis on pulmonary function has been
studied by a number of investigators. Most authors have
found no difference in the rate of pulmonary deterioration
or long-term survival between patients who underwent
spinal fusion and those who did not, although all agree that
surgery improves sitting.139,184,185,242 Conversely, Velasco and
colleagues found that the rate of decline in pulmonary func-
tion was half the annual preoperative rate of decline in a
group of 56 patients following posterior spinal fusion.270
Additionally, an average perioperative decrease in pulmo-
nary function of 1% has been reported, which should be
considered in the preoperative assessment of the patient.231
Galasko and associates, on the other hand, found that chil-
dren whose scoliosis was stabilized maintained better pul-
monary function and lived longer.85,86
The complication rate of spinal surgery in patients with
Duchenne muscular dystrophy is a concern. Major compli-
cations occurred in 27% in one study.225 During spinal
fusion, loss of blood can be substantial.241 Although the
results of laboratory analysis of platelet function are normal,
bleeding times may be increased, and blood vessel reactivity
is impaired.205,264 Platelet adhesion has also been found to
be deficient in boys with Duchenne muscular dystrophy.80
Therefore, one should be prepared for the transfusion of
several units of blood.279 Intravenous administration of an
antifibrinolytic medication such as tranexamic acid has been
shown to decrease blood loss in this patient group.245 Post-
operative infection is not uncommon, and instrumentation
failure can occur. Medical complications, such as pneumo-
nia, also occur more frequently in this patient population.
Miller and Hoffman noted pulmonary complications in 17%
of 183 patients who underwent surgery.188 Cardiac compli-
cations have been reported during anesthesia128 and in the
postoperative period.52 Sudden death can occur on rare
occasion in these children during the perioperative period.225
Studies have shown that the families of children with
Duchenne muscular dystrophy believe that the patients’
quality of life is enhanced by spinal fusion surgery.97,225
Without surgery, scoliosis interferes with comfortable sitting
in a wheelchair, thereby deterring children from getting out
into the community and forcing them into their beds during
the terminal phase of the disease. One substantial func-
tional change noted by parents is that their children can no
longer feed themselves after spinal fusion surgery because
the spine can no longer collapse and enable the head to be
 CHAPTER 39  Muscle Diseases e331

A B C
FIGURE 39-13  Preoperative (A) and postoperative (B and C) radiographs of posterior spinal fusion with Luque-Galveston instrumentation
in a patient with Duchenne muscular dystrophy.

A B C
FIGURE 39-14  A, Anteroposterior radiograph of the spine of an 11-year-old boy with Duchenne muscular dystrophy and 30-degree
scoliosis. B and C, Posterior spinal fusion via hybrid fixation, including hooks, pedicle screws, and Dunn-McCarthy sacral fixation, was
performed.
e332 SECTION VI  Neuromuscular Disorders
lowered to the level of the food tray. Postoperative malnu-
trition has been documented in some of these children.126
Families should be counseled about the serious risks associ-
ated with this surgery and the consequences if the surgery
is not performed. A validated outcome tool has been devel-
oped to assess symptoms and functional abilities important
to children with scoliosis and muscular dystrophy and their
parents.285
Anesthetic Considerations
Malignant hyperthermia has been associated with muscular
dystrophies, particularly the Duchenne and Becker types.
Use of succinylcholine and inhalational agents should be
avoided during surgery.138,153 Intraoperative cardiac arrest,128
intraoperative anaphylaxis as a result of latex allergy,63 and
complete airway obstruction because of tracheobronchial
compression after intubation230 have also been described in
children with Duchenne muscular dystrophy. Hypotensive
anesthetic techniques to minimize blood loss have been
used in selected patients with Duchenne muscular dystro-
phy and mild scoliosis.42,83
Upper Extremities
Children with Duchenne muscular dystrophy commonly
have elbow flexion and shoulder adduction contractures,
but these conditions do not require treatment. Wrist flexion,
ulnar deviation, and finger flexion contractures may develop,
and these conditions are best treated with daily passive
stretching exercises. When wrist dorsiflexion is limited to
neutral, splinting is indicated.244 Surgery is not generally
required to treat conditions in the upper extremity second-
ary to Duchenne muscular dystrophy.
Fractures
Patients with muscular dystrophy are prone to fractures for
several reasons. First, the bone mineral density of the lower
extremities is decreased, even in ambulatory patients with
Duchenne muscular dystrophy.12,29,154 Corticosteroid use
results in further decreases in bone mineral density. Second,
lower extremity weakness predisposes the patient to falling,
and upper extremity weakness generally precludes the use
of walking aids that might prevent falls. A study of 378 boys
with Duchenne muscular dystrophy (median age, 12 years)
found that 21% had sustained fractures.172 Forty-eight
percent of the fractures occurred in ambulatory patients.
Unfortunately, 20% of ambulatory patients and 27% of
those who were able to walk with orthoses permanently lost
the ability to ambulate after the fracture. Furthermore, 40%
of boys who sustain a fracture of the femur lose their ability
to walk.271 Therefore, aggressive management of lower
extremity fractures with early mobilization and therapy
should be pursued. Fractures in ambulatory patients should
be treated with internal fixation when appropriate to mobi-
lize the patient as soon as possible.
Steroid and Other Drug Therapy
The efficacy of oral steroids in slowing the progression of
Duchenne muscular dystrophy has been tested in clinical
trials, the results of which strongly support their use.193
Steroids are potent antiinflammatories and can help stabi-
lize the cell membrane.5 They act by decreasing the inflam-
matory response to the disrupted muscle cell. Prednisone
has been shown to delay the loss of ambulation in patients
with Duchenne muscular dystrophy for 2 to 5 years.76,100,101,175
Further investigations have been undertaken to evaluate
pulsed treatments and alternate-day dosing to preserve
the efficacy of steroids but decrease their potential side
effects.288 Convincing work has come from Toronto and
Quebec, where protocols using the steroid deflazacort have
produced prolonged ambulation and a striking decrease in
the incidence of scoliosis.7,121 High-dose daily deflazacort
has been shown to maintain strength, preserve pulmonary
function, and prevent deformity better than lower-dose
regimens.33 Seventy-seven percent of boys maintained on a
protocol of deflazacort, vitamin D, and calcium remained
able to walk at 15 years of age. Scoliosis was present in only
16% of the treated boys as compared with 90% of controls.
A 2007 study of corticosteroid use found that boys who
were treated daily with steroids walked 3.3 years longer
than did untreated boys and had a 31% incidence of scoliosis
versus 91% in the untreated cohort.142 Pulmonary function
is also better preserved in Duchenne patients treated with
both deflazacort and prednisone than in untreated controls
as evidenced by greater FVC (88% versus 39% of predicted
FVC) and a delay in the use of noninvasive ventilation.17,22,30
The improved health in patients treated with steroids versus
untreated controls is maintained at longer-term follow-up
(age of 18 years).31
Steroid therapy is associated with significant side effects,
including weight gain, cataracts, and osteopenia. Weight
gain is variable in boys taking steroids, with one study
finding no gain in weight because of an increased activity
level in treated patients.33 Bone mineral density, as mea-
sured by dual-energy x-ray absorptiometry, is decreased in
all boys with Duchenne muscular dystrophy and is even
more diminished in those taking steroids.29 Osteopenia may
result in vertebral compression fractures and long-bone
fractures (Fig. 39-15).37,142 Bisphosphonates have been
found to be beneficial in a small series when given to coun-
teract the osteopenic effects of steroids.94,108
The current literature on the use of steroids for Du­­
chenne muscular dystrophy can be summarized as follows:
ambulation can be prolonged secondary to maintenance of
muscle strength, scoliosis can be at least delayed and pos-
sibly prevented (Fig. 39-16), and side effects are present
but manageable. Therefore, steroids should be offered to
boys in whom Duchenne muscular dystrophy is diagnosed
to preserve strength as long as possible.
Gentamicin is an effective treatment in a small subset of
boys with Duchenne muscular dystrophy caused by a stop
codon within the dystrophin gene. Aminoglycosides can
allow readthrough of some stop codons.122,162,218
Gene Therapy
Research is now focusing on the genetic treatment of
Duchenne muscular dystrophy.127,136,188,189,212,213 Myoblast
transfer to introduce healthy dystrophin via injection into
the muscles of children with Duchenne muscular dystrophy
has been unsuccessful because of immune system rejection
and failure to achieve anything but a local response at the
injection site.174,188,211 Injection of dystrophin cDNA has
been successful in the dystrophin-deficient mouse.135 Gene
therapy to replace the defective dystrophin gene has not
been successful in humans to date. One area of investigation

FIGURE 39-15  Lateral spine radiograph of a 16-year-old boy
receiving steroids long term as treatment of Duchenne muscular
dystrophy. Note the severe osteopenia and lumbar compression
fractures.
is upregulation of utrophin, a dystrophin-related protein
that has been found to partially replace the function of
dystrophin in experimental animal models.214 Clinical trials
have been performed to evaluate medical therapy in patients
with two specific dystrophin mutations described as “exon
skipping” and “nonsense codon suppression.” The trials
were successful in restoring dystrophin production, albeit
reduced in comparison to normal, in children with these
specific mutations. This illustrates the probable need in the
future to classify the specific dystrophin mutations present
in children with Duchenne muscular dystrophy.200
Stem cell therapy is also under investigation but not yet
of clinical use.176
Prognosis
Until recently, death from respiratory failure usually
occurred by the late teens to early 20s.2,114 The age when
vital capacity falls below 1 L has been shown to predict
mortality, with a 5-year survival rate of only 8%.215 Cardiac
CHAPTER 39  Muscle Diseases e333
involvement is the cause of death in approximately 20% of
males with Duchenne muscular dystrophy.78 With current
medical treatment, improved respiratory therapy, and the
availability of home mechanical ventilation, life expectancy
is increasing for patients.66 Median survival to the age of 30
was reported in a group of patients who underwent spinal
fusion and were subsequently ventilated when pulmonary
function declined over time.67 New problems are surfacing
with survival into adulthood. In a survey of adults 18 to 42
years of age with Duchenne muscular dystrophy, musculo-
skeletal pain was a complaint in 40%.223
Becker Muscular Dystrophy
Becker muscular dystrophy23 resembles Duchenne muscu-
lar dystrophy, but the age at onset is later and the rate of
muscle deterioration is slower. The age at diagnosis is gener-
ally older than 7 years, and the patient may be able to
ambulate into early adulthood.
Etiology and Diagnosis
Becker muscular dystrophy is inherited in an X-linked reces-
sive pattern. The genetic cause of the disease is a mutation
at the Xp21 locus on the X chromosome, the same location
as the mutation that causes Duchenne muscular dystrophy.
Genetic testing can identify the mutation in many
patients.24,227
Because this locus encodes for dystrophin, the protein is
abnormal in patients with Becker muscular dystrophy as
well. The site of deletion in the Xp21 locus determines the
amount or size of dystrophin (i.e., an in-frame deletion
causes Becker muscular dystrophy, whereas an out-of-frame
deletion causes Duchenne muscular dystrophy).44 In-frame
deletions result in the production of subnormal amounts of
dystrophin or the production of dystrophin that is abnormal
in size.117,119 The presence of diminished amounts of dys-
trophin on histochemical stains of muscle biopsy specimens
is diagnostic of Becker muscular dystrophy. The prevalence
of Becker muscular dystrophy, as established by dystrophin
analysis, has been reported to be 2.38 per 100,000, a rate
greater than that assumed before dystrophin analysis became
available.46
In young patients, muscle biopsy shows active necrosis
of muscle fibers with regeneration.261 In older patients, a
chronic myopathic process is seen on biopsy specimens.132
Clinical Features
The clinical manifestations of Becker muscular dystrophy
can vary significantly, with the severity of the patient’s
weakness directly related to the amount of dystrophin
present. In milder forms of the disease (in which dystrophin
levels are ≥20% of normal), patients may be able to walk
into their 20s.119 In the most severe form, little dystrophin
is present, and before the availability of dystrophin analysis,
Duchenne muscular dystrophy was often misdiagnosed in
these boys. Other patients with severe Becker muscular
dystrophy were thought to have spinal muscular atrophy173
or limb-girdle muscular dystrophy.206 Bushby and Gardner-
Medwin described two groups of patients with Becker mus-
cular dystrophy.43 Children in the first group are younger at
disease onset, lose the ability to ambulate in adolescence,
and more frequently have cardiac involvement. In the
e334 SECTION VI  Neuromuscular Disorders

A B

C D
FIGURE 39-16  A and B, Anteroposterior and lateral radiographs of a 14-year-old boy with scoliosis who was being treated long-term with
steroid therapy. Though rare, scoliosis may occur and is complicated by obesity and osteopenia. C and D, Same boy following posterior
spinal fusion with segmental fixation.

A B
second group, onset occurs at an older age, the disease
follows a milder clinical course, and patients may walk
until 40 years of age. Calf pseudohypertrophy is seen in
Becker muscular dystrophy, as it is in the Duchenne type
(Fig. 39-17).
Medical Concerns
Cardiac involvement occurs frequently in patients with
Becker muscular dystrophy. The age at onset of cardiomy-
opathy has been correlated with the patient’s specific dys-
trophin mutation.137 Up to 71% of people with the disease
have electrocardiographic abnormalities.123,171 Dilated car-
diomyopathy develops in a high percentage of patients and
can be incapacitating and life-threatening. Because patients
with Becker muscular dystrophy live longer than those with
Duchenne muscular dystrophy, a more significant long-term
workload is placed on the weakened myocardium, which
leads to mitral regurgitation and heart failure.234 Severe
restrictive lung disease is a less frequent and later
complication.171
Treatment
Orthopaedic management of patients with Becker muscular
dystrophy is similar to that for patients with Duchenne
muscular dystrophy. Ankle equinus has been treated suc-
cessfully by Vulpius or heel cord lengthening, with posterior
tibialis transfer to the dorsum of the foot being performed
as needed.244 Lower extremity bracing is often prescribed
for patients with Becker muscular dystrophy (in contrast to
Duchenne muscular dystrophy) because loss of muscle
strength occurs more slowly in these patients. As patients
become nonambulatory, scoliosis develops, particularly in
those with severe Becker muscular dystrophy. Spinal fusion,
CHAPTER 39  Muscle Diseases e335
FIGURE 39-17  A and B,
Pseudohypertrophy of the calf in a boy
with Becker muscular dystrophy.
using the same principles as for patients with Duchenne
muscular dystrophy, is recommended.58
Medical treatment with prednisolone has been investi-
gated, with improvement in muscle strength reported.19
Short-term improvement in strength has likewise been
reported in a small series of patients given creatine supple-
ments.159 Gene therapy is also under investigation.32,136
Emery-Dreifuss Muscular Dystrophy
Etiology and Diagnosis
Emery-Dreifuss muscular dystrophy is an uncommon,
X-linked recessive form of the disease that was first
described in 1966.72 The gene most frequently responsible
for Emery-Dreifuss muscular dystrophy is the STA gene
located in the Xq28 region of the X chromosome,57,91,115
which encodes for a nuclear membrane protein called
emerin.163 The abnormalities in this gene have been
described in the literature.246,286 Although the disease
is usually inherited as an X-linked recessive trait, severe
cases caused by autosomal dominant inheritance as a
result of mutations in the lamin A/C gene have been
reported.70,113,178,232 This gene is also disturbed in patients
with type 1B limb-girdle muscular dystrophy and type 2B
Charcot-Marie-Tooth disease.207,276
Muscle biopsy specimens from patients with Emery-
Dreifuss muscular dystrophy show a normal level of dystro-
phin but an absence of emerin.185 Microscopically, the
muscles appear myopathic. Cardiac muscle biopsy speci-
mens show structural changes within the myocardium.275
Skin biopsy to determine the presence or absence of emerin
has been proposed as a diagnostic test.192
e336 SECTION VI  Neuromuscular Disorders
Clinical Features
Emery-Dreifuss dystrophy is associated with the classic
triad of slowly progressive muscle wasting and weakness,
cardiomyopathy (most commonly manifested as heart
block), and early contractures.69,70 Patients may have com-
plaints of only diminished flexibility and contractures;
because the cardiac manifestations are usually silent, it is
critical that the orthopaedist be aware of this condition.92
Muscle weakness is manifested in a humeroperoneal distri-
bution. The initial symptoms are mild weakness, clumsi-
ness, and toe-walking. The Gowers sign may be present.
Patients usually retain the ability to walk as they become
older.
Laboratory Findings
Serum CK levels are elevated in males with Emery-Dreifuss
muscular dystrophy, but the levels are not as high as those
in patients with Duchenne or Becker muscular dystrophy.
Female carriers of the disease do not usually have elevated
CK levels.27
Medical Concerns
The most serious medical condition associated with Emery-
Dreifuss muscular dystrophy is cardiomyopathy. Patients
are susceptible to conduction defects, and sudden death
from complete heart block has occurred in patients in
their 20s. In a series reported by Merlini and associates,
30 of 73 patients died suddenly, with most of them
exhibiting no cardiac symptoms before the fatal heart
block.181 Even female carriers without muscle weakness
who have the STA gene may suffer bradyarrhythmias and
die suddenly.235 Insertion of a pacemaker in patients in
whom Emery-Dreifuss dystrophy is diagnosed has been
recommended.28,70,208,224,263,289
A B
FIGURE 39-18  A and B, Spinal radiographs of an 11-year-old girl with Emery-Dreifuss muscular dystrophy show mild scoliosis and
increased lordosis throughout the spine.
Treatment
The orthopaedic deformities associated with Emery-
Dreifuss muscular dystrophy result from joint contractures,
which are a hallmark of the disease. Achilles tendon con-
tractures may be present at diagnosis, in which case patients
may benefit from heel cord lengthening.243 Characteristic
elbow flexion contractures occur but rarely exceed 90
degrees. Further flexion, pronation, and supination are pre-
served. Physical therapy may be helpful, but surgery is
rarely indicated. Cervical extension contractures limit
flexion of the neck, but they do not usually progress beyond
the neutral position of the neck. Over time, lateral rotation
may also become limited (rigid spine syndrome).243
Scoliosis occurs in patients with Emery-Dreifuss muscu-
lar dystrophy, but unlike the situation in those with Du­­
chenne or Becker muscular dystrophy, the curvature may
stabilize. Thus, scoliosis in these patients does not always
require spinal fusion. Progression of the curve should be
monitored closely. The effect of contractures of the spine
stabilizing curves of up to 40 degrees has been described
(Figs. 39-18 and 39-19).243
Anesthesia in persons with Emery-Dreifuss muscular
dystrophy carries increased risk. In addition, intubation can
be difficult because of cervical contractures, and cardiac
arrhythmias may occur.129
Limb-Girdle Muscular Dystrophy
The limb-girdle muscular dystrophies (LGMDs) are char-
acterized by weakness in the proximal muscles of the
limbs.171,278 Twenty-one genetically distinct forms of the
disease have been isolated as of this writing.199 Fourteen
types are inherited as autosomal recessive traits, and seven
are autosomal dominant in inheritance.11 The autosomal

FIGURE 39-19  Radiograph of the spine of a 16-year-old boy with
scoliosis secondary to Emery-Dreifuss muscular dystrophy. The
curve has an idiopathic appearance.
recessive forms are more common (accounting for 90% of
cases) and tend to follow a more severe clinical course.36,290
Etiology
Genetic analysis has identified numerous abnormali-
ties.93,102,133 Type 2A LGMD is the most common form.75
The gene responsible for the production of calpain 3 is
located on chromosome 15 and is defective in this type.82,233
Calpain is absent in patients with type 2A LGMD but,
interestingly, is increased in patients with Duchenne mus-
cular dystrophy.262 Type 2B LGMD is the result of muta-
tions in the dysferlin gene on chromosome 2p13.201 Dysferlin
is a transmembrane protein normally located in the sarco-
lemma.216 Types 2C through 2F are known as the sarcogly-
canopathies.217 Type 2I results from mutations in
fukutin-related protein. Fukutin mutations are also caus-
ative in congenital muscular dystrophy; therefore, these
diseases are allelic. The genetic abnormalities that result in
LGMD may also be shared by patients with Emery-Dreifuss
muscular dystrophy and type 2b Charcot-Marie-Tooth
disease, thus illustrating genetic overlap among the various
progressive neuromuscular diseases.87,207
Clinical Features
Significant similarities may be noted in the clinical manifes-
tations of the different forms of LGMD, although disease
severity can vary markedly, even within affected families.290
Onset is usually in the second or third decade at an average
age of 17.2 years.287
CHAPTER 39  Muscle Diseases e337
The age at onset of type 2A disease averages 14 years,
with 71% of patients manifesting muscle weakness between
6 and 18 years of age.233 The disease is typically more benign
than Duchenne muscular dystrophy, although the clinical
course is variable. The age at onset and clinical symptoms
mimic Becker muscular dystrophy, and type 2A LGMD was
often confused with it before the availability of molecular
genetic testing.15 The disease has also been mistaken for the
Kugelberg-Welander form of spinal muscular atrophy.210 The
mean age at loss of ambulation with type 2A disease is 32
years.233 In contrast, the onset of type 1A LGMD usually
occurs in adulthood. This form is clinically distinct based
on the presence of a dysarthric pattern of speech.107
Two major patterns of weakness are noted in the various
forms of LGMD. In the pelvic-femoral type, muscle weak-
ness involves primarily the pelvic girdle musculature. In
particular, the iliopsoas, gluteus maximus, and quadriceps
are affected. Shoulder weakness becomes apparent soon
thereafter. The tibialis anterior is affected before the gas-
trocsoleus.25 Contractures of the Achilles tendon and elbow
are variable; in patients with type 2A LGMD, contractures
develop early in the course of the disease,219 whereas in
others, contractures may not develop for many years.267
Weakness of hip abduction and extension leads to increased
lumbar lordosis. In the less common scapulohumeral type,
the shoulder girdle is affected initially, with pelvic weakness
occurring several years later. Initial symptoms include dif-
ficulty lifting the arms above the head, rising from the floor,
or climbing stairs. Calf pseudohypertrophy may be present.
Patients usually retain the ability to walk into adulthood.
Magnetic resonance imaging (MRI) shows typical pat-
terns of muscular involvement in some forms of LGMD. In
type 2I, changes are seen in the hip adductors, posterior
thigh muscles, and gastrocsoleus. Clinical examination of
this subset of patients shows weakness in hip flexion and
adduction, knee flexion, and ankle dorsiflexion. In type 2A,
MRI shows abnormal signal in the adductor and posterior
thigh muscles as well, but the medial head of the gastroc-
nemius and the soleus muscles are significantly involved,
whereas the lateral gastrocnemius is spared.79,179
Laboratory Findings
Serum CK levels may be normal or elevated. Myopathy is
noted on EMGs, but nerve conduction velocity is normal.249
Histologic evaluation of muscle biopsy specimens shows
predominantly dystrophic changes; less frequently, myo-
pathic and neurogenic changes may be present as well.
Inflammatory cells are seen more frequently in the autoso-
mal recessive forms, which is logical because these forms
are clinically worse than the autosomal dominant sub-
types.268 The diagnosis is made by immunoassay analysis of
muscle tissue using antibodies against a panel of muscular
dystrophy–associated proteins.217 For example, staining for
dystrophin is normal in LGMD but abnormal in Duchenne
and Becker muscular dystrophy, whereas stains for calpain
are abnormal in patients with LGMD type 2A.
Medical Concerns
Cardiac involvement is less common overall in patients with
LGMD. Electrocardiographic and echocardiographic abnor-
malities were discovered in 50% and 25% of patients,
respectively.249 The clinical significance of these findings,
e338 SECTION VI  Neuromuscular Disorders
however, remains unknown. Pulmonary involvement also
occurs but is much milder than in Duchenne or Becker
muscular dystrophy. The severity of pulmonary disease does
not correlate with the degree of muscle weakness present
in the limbs.250 Cardiac and pulmonary failure is more
common in type 2I, the form linked with fukutin
mutations.220
Treatment
Treatment of LGMD is similar to that for Becker muscular
dystrophy. Scoliosis rarely requires orthopaedic interven-
tion because the onset of disease is later than that of Du­­
chenne muscular dystrophy.
Facioscapulohumeral Muscular Dystrophy
Etiology
Facioscapulohumeral (FSH) muscular dystrophy is inher-
ited as an autosomal dominant trait and usually causes
symptoms in the second decade of life. The incidence of
FSH dystrophy is 1 in 20,000 live births.8 The gene for the
disease has been localized to chromosome 4q35.8,13,236 The
genetic defect is a deletion of a variable number of noncod-
ing triplet repeats in the D4Z4 gene.156 Penetrance of the
gene is variable, so even though the disease is transmitted
as an autosomal dominant trait, clinical severity of the
disease may vary among family members. Some individuals
carry the mutation but have no identifiable muscle weak-
ness.251 Females are more mildly affected than males and
are more likely to be asymptomatic carriers.291
Clinical Features
The clinical course of FSH muscular dystrophy is character-
ized by slow progression. Ninety percent of affected
A B
FIGURE 39-20  A to C, Clinical appearance of a patient with facioscapulohumeral muscular dystrophy. Note the winging of the scapulae.
individuals have symptoms by the age of 20 years.144 Initial
findings are a lack of facial wrinkles (noticeable around the
eyes and on the forehead), a transverse smile, and an inabil-
ity to fully and forcefully close the eyelids. A characteristic
pattern of weakness involving the facial muscles and scapu-
lar stabilizers ensues.
The most significant weakness is seen in the trapezius,
rhomboids, and levator scapulae. The deltoid remains
strong, but its ability to abduct the shoulder is lost as the
unstable scapula rotates with attempted abduction. Physical
examination reveals winging of the scapulae, in addition to
loss of forward flexion and abduction of the shoulder as a
result of loss of stabilization of the scapula on the chest wall
(Fig. 39-20). As the patient tries to abduct the shoulder,
the unstable scapula protrudes, elevates, and rotates
inward.52 Patients complain of a loss of range of motion,
stretching along the medial border of the scapula, pain, and
fatigue.
Lower extremity involvement is uncommon. Because the
muscles of the lower limbs are usually spared, only 20% of
patients eventually become wheelchair bound.260 Weakness
of the anterior tibialis develops in some patients, and these
individuals benefit from bracing. The hip girdle is affected
late, and some patients may need wheelchairs in their 30s
or 40s. Spinal deformity has been documented in up to 35%
of patients, with the primary deformity being hyperlordo-
sis.244 Scoliosis may occur but rarely requires treatment.
Life expectancy is usually normal.
Laboratory Findings
Serum CK levels are generally normal in patients with FSH
muscular dystrophy. Genetic testing can now demonstrate
mutations in affected persons, but the size of the deletion
varies among patients.47 The diagnosis of FSH muscular
dystrophy is usually suspected on the basis of clinical
C

findings. The supraspinatus muscle is recommended for
obtaining a biopsy specimen to confirm the diagnosis when
genetic testing is equivocal because specimens from other
sites often result in nondiagnostic findings.35
Medical Concerns
Medical complications from FSH muscular dystrophy are
rare. Restrictive pulmonary disease has been documented
(22% rate in one study).141 In a comprehensive survey of
Dutch patients with FSH muscular dystrophy, 1% of the
patient population was found to use nocturnal BIPAP.283
Cardiac disease occurs less frequently in these patients than
in those with other forms of muscular dystrophy.141
Treatment
The use of prednisone to slow the progression of FSH
muscular dystrophy has not proved effective.259 However,
trials indicate that albuterol (a β2-receptor agonist) may be
helpful.145,269
Orthopaedic management of patients with FSH muscu-
lar dystrophy has focused on scapulothoracic stabilization
(Fig. 39-21).60 Indications for scapulothoracic fusion are
intractable shoulder pain and loss of function because of
lack of shoulder range of motion. Ketenjian first described
scapulocostal stabilization for scapular winging in 1978
(Plate 39-2).140 He advocated fixing the scapula to the ribs
with double Mersilene tape, which he preferred to fascia
lata. The tape is passed through drill holes along the medial
border of the scapula and around three or four ribs. Alter-
natively, fixation of the scapula to the ribs may be achieved
FIGURE 39-21  Radiograph of the scapula after scapulothoracic
arthrodesis with wire fixation to the ribs.
CHAPTER 39  Muscle Diseases e339
with wire passed through drill holes in the scapula and
around the ribs,41 by plate and wire techniques,157 by mul-
tifilament cables,61 or by screw fixation.148
The position in which the scapula should be stabilized
can be determined clinically by manually holding the scapula
while the patient abducts the shoulder. When performing
this maneuver, the preferred position of the scapula has
been determined to be 15 to 20 degrees of external rota-
tion. Less rotation does not maximize abduction, and greater
abduction limits shoulder adduction. The scapula is not
pulled distally because of the potential for endangering the
brachial plexus.
Several authors have reported improvement in abduction
ranging from 25 to 65 degrees and an increase in flexion
ranging from 29 to 40 degrees after scapulothoracic arthro­
desis.26,41,265 Demirhan and colleagues found that active
shoulder flexion and abduction doubled 3 years following
successful scapulothoracic fusion, with corresponding
improvements seen in Disabilities of the Arms, Shoulder,
and Hand (DASH) scores.61 Diab and co-workers found
that some patients with FSH will experience a decrease in
abduction following scapulothoracic arthrodesis over time,
however, because of progression of weakness in the deltoid
muscle.62
The disadvantage of scapulothoracic fusion is limitation
of rib motion, which can lead to loss of pulmonary function,
although Bunch and Siegel found that vital capacity was
reduced by approximately 10% in one patient (not clinically
significant).41 Perioperative pulmonary complications (e.g.,
pleural effusion, atelectasis, pneumothorax) have also been
described.157 Overall, complications of scapulothoracic
arthrodesis are common and include brachial plexus palsy
and pseudarthrosis.26,284 Intraoperative neuromonitoring of
the brachial plexus may alert the surgeon to potential injury
as a result of scapular repositioning.161 Despite modern fixa-
tion techniques consisting of plates, wires, and bone grafts,
Krishnan and associates reported complications in more
than half of their 22 patients.148
One alternative to scapulothoracic fusion is scapulopexy,
whereby the scapula is stabilized to the ribs via multiple
wires, but fusion is not performed. A small study of 13
patients observed for an average of 10 years showed good
results with only one incident of wire breakage.88,89
Infantile Facioscapulohumeral
Muscular Dystrophy
An early-onset form of FSH muscular dystrophy that has a
distinctly different clinical course than the more common,
later-onset form has been reported.147,244 Facial weakness
(also described as facial diplegia) is seen in infancy, with
sensorineural hearing loss occurring at an average of 5 years
of age. Weakness is rapidly progressive, and the lower
extremities are affected as well. The hallmark of this disease
is a rapidly progressive lumbar hyperlordosis.
Treatment of the hyperlordosis with spinal orthoses has
not been successful and interferes with walking. Spinal
fusion after the child loses the ability to ambulate is recom-
mended. Scapulothoracic fusion is not advised because the
advanced weakness associated with this variant of FSH
muscular dystrophy precludes improvement in function
after the procedure.
e340 SECTION VI  Neuromuscular Disorders
Scapuloperoneal Dystrophy
Scapuloperoneal dystrophy is an autosomal dominant con-
dition characterized by involvement of the shoulder mus-
culature and the peroneal and tibialis anterior muscles. The
facial muscles are generally spared, but some clinical overlap
occurs with the clinical manifestations of FSH muscular
dystrophy.183 Patients are usually initially seen in adult-
hood,209 some with complaints of toe-walking. The disease
has been linked to chromosome 12,281 but the diagnosis is
generally confirmed by muscle biopsy.
Congenital Muscular Dystrophy
Congenital muscular dystrophy (CMD) is evident at or
shortly after birth. As is the case with many of the other
forms of muscular dystrophy, molecular genetic research
has led to the discovery of multiple subtypes of this
disease.274
Merosin-deficient CMD (CMD1a) is the most common
form and is characterized by neonatal hypotonia, delayed
motor milestones, and contractures. It is caused by a defi-
ciency in a protein in the extracellular matrix of muscle
fibers, the α2 chain of laminin 2 known as merosin.1
This disease occurs as a result of a mutation in the LAMA2
gene at 6q22-23.14,56,103,111,266 Merosin-deficient CMD devel-
ops at a young age and tends to have a severe clinical
course.245 Cases of partial merosin deficiency have been
reported, and the phenotype in these patients is usually
milder.167
Mutations in the genes that encode collagen VI (COL6A1
to COL6A3), located at chromosome 21q22.3, result in
Bethlem myopathy and Ullrich CMD.151,237 Because the
genetic defect is distinct from that in merosin-deficient
CMD, these forms are known as merosin-positive CMDs.
Bethlem myopathy is the milder of the two conditions and
results from autosomal dominant inheritance; Ullrich CMD
is an autosomal recessive condition. Patients with Ullrich
CMD have severe muscle weakness, proximal joint contrac-
tures, and distal hyperlaxity resembling Ehlers-Danlos syn-
drome. Spinal rigidity and scoliosis tend to develop, and
respiratory compromise is frequently present by 10 years
of age.180,198 Skin biopsy can assist in making the diagnosis.143
Bethlem patients have proximal weakness and milder distal
joint contractures on clinical examination. One third of
patients older than 50 years with Bethlem myopathy are
able to ambulate.130
Another group of CMDs results from mutations in pro-
teins critical to glycosylation of α-dystroglycan.197 Muta-
tions in the fukutin gene at 9q31 result in Fukuyama
muscular dystrophy, one of the most common autosomal
recessive conditions in the Japanese population.146 These
patients have severe weakness at birth and do not achieve
the ability to stand. Fukutin mutations can also result in a
form of LGMD.177
Another form of CMD described is rigid spine syndrome.
These children have early-onset scoliosis, resultant respira-
tory compromise, and weakness of the neck musculature.185
This disease has been linked with mutations in SEPN1, the
gene that codes for selenoprotein N.190 Merosin is present
in this condition, so it is considered a merosin-positive
CMD.
The initial complaints in all forms of CMD are hypotonia
and motor weakness of the limbs, trunk, and facial muscles.
Symptoms are present at birth or are noted shortly there-
after. Neck extensor weakness may be present with merosin-
deficient CMD and rigid spine syndrome. This weakness
leads to a “dropped head” appearance in infancy, which
becomes noticeable as children attempt to sit or move
about.59 In merosin-deficient patients, sucking and swallow-
ing may be difficult, with resultant aspiration. Gastroesoph-
ageal reflux is also common.201 Deep tendon reflexes are
decreased or absent. Deformities such as clubfeet and
contractures are often present at birth. The deformities
tend to worsen with growth and are aggravated by
immobilization.280
CMD has a variable clinical course. In milder forms,
progression of weakness is slow. Patients with merosin in
their muscles are able to walk by 2 years of age and may
retain the ability to ambulate into adulthood. Merosin-
deficient patients rarely develop the ability to walk inde-
pendently. Some forms of CMD are associated with mental
retardation158 and seizures.131 Cardiac involvement is vari-
able among the subtypes of CMD.77
EMGs show myopathic changes in all forms of CMD.
An associated neuropathy is seen in patients with the
merosin-deficient form of the disease, which is expected
because of the lack of normal myelination seen on MRI.221
Serum CK levels are often, but not always elevated. Find-
ings from muscle biopsy are similar to those in other types
of muscular dystrophy. Histopathologic changes in the
muscle are more severe in the merosin-deficient form of the
disease.258 Skin biopsy may provide the diagnosis.240 Cardiac
involvement is present in some children.51
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Myotonic Dystrophy
Myotonic dystrophy is a steadily progressive familial disease
in which a myopathy involving the face, eyes, jaw, neck, and
distal limb muscles is associated with myotonia. Onset of
the disease usually occurs in late adolescence or adulthood.
Earlier onset is seen in the offspring of affected mothers, in
which case the disease is called congenital myotonic dystro-
phy. Overall, myotonic dystrophy is the most common form
of muscular dystrophy in adults, with an incidence of 1 in
8000 individuals.18
Etiology
The condition is divided into the more common type 1
myotonic dystrophy, also known as Steinert disease, and
A B
C D
FIGURE 39-22  Clinical signs of myotonia in a patient with myotonic dystrophy. A and B, Delayed relaxation of the hand may be noted.
C, Myotonia may be elicited by striking the muscle of the thenar eminence or deltoid with a reflex hammer. D, A persistent dimple is
seen because of the prolonged muscle contraction.
CHAPTER 39  Muscle Diseases e347
type 2 myotonic dystrophy, or proximal myotonic myopa-
thy.14 Both are transmitted as autosomal dominant traits.
An increase in clinical severity of the disease with genetic
transmission through generations is known as anticipation.13
The genetic defect in type 1 myotonic dystrophy is an
expansion of a CTG triplet in the myotonin protein kinase
gene on chromosome 19.23,24 The size of the repeat corre-
lates with disease severity phenotypically.6,7 The genetic
locus for type 2 myotonic dystrophy is a similar CCTG
expansion on chromosome 3.18 Type 2 myotonic dystrophy
does not have a congenital form.4 Probes have been devel-
oped for molecular genetic testing for diagnostic purposes.11
A characteristic “dive bomber” signal on an EMG can be
helpful in establishing the presence of myotonia.
Clinical Features
Myotonia, the striking characteristic of the disease, is failure
of voluntary muscles to relax immediately and persistence
of contraction following voluntary movement or mechanical
or electrical stimulation. A delay in relaxation of handgrip
can be noted clinically. Myotonia may be elicited by striking
the muscle of the thenar eminence or deltoid with a reflex
hammer. A persistent dimple is seen because of the pro-
longed muscle contraction (Fig. 39-22). The muscles most
affected by myotonia are those of the hands, face, tongue,
and occasionally the limbs. When the patient closes the eyes
tightly, a delay in relaxation occurs. The degree of myotonia
is lessened by repetition of motion.
A characteristic facial appearance is associated with myo-
tonic dystrophy (Fig. 39-23). The face is expressionless, and
ptosis is notable. The patient has difficulty pursing the lips,
e348 SECTION VI  Neuromuscular Disorders
FIGURE 39-23  Characteristic facial appearance
associated with myotonic dystrophy in a child
(A) and the child’s mother (B). The face is
A B
expressionless, and ptosis is present.
whistling, and tightly closing the eyes. The voice is nasal and
monotonous. Dysarthria may result from laryngeal involve-
ment. The sternocleidomastoid muscles are often involved,
with atrophy leading to increasing cervical lordosis.
Myotonic dystrophy affects the distal musculature first,
with the muscles of the hand, the tibialis anterior, and the
peroneals involved early in the course of the disease. The
calf muscles become involved next, followed by the quad-
riceps and hamstrings. Deep tendon reflexes are diminished
or absent. Contractures are mild, but children with the
congenital form of the disease may have either clubfoot or
acquired equinovarus deformities, which often require
surgery.3,21 Some patients slowly lose the ability to walk
within 20 years after the onset of symptoms.
Scoliosis has been reported in up to 30% of children with
myotonic dystrophy.3 Surgery is needed rarely but may be
difficult because of the arthrogrypotic-like stiffness of the
curve and excessive bleeding.26
Infants with congenital myotonic dystrophy have severe
muscle weakness and hypotonia. They have feeding diffi-
culty and respiratory distress, and many require mechanical
ventilation.15 Severe clubfeet, similar to that seen in chil-
dren with arthrogryposis, may be present in newborns with
congenital myotonic dystrophy.19
Medical Concerns
Myotonic dystrophy is associated with mental retardation.
Cerebral atrophy and white matter disease can be seen on
MRI of the brain, and these findings correlate with increas-
ing size of the triplet expansion.1,8,9 The severity of mental
impairment is greater with the congenital form of the
disease.12 Developmental delays occur in this group of
affected infants. Likewise, overall morbidity is markedly
increased in infants with congenital myotonic dystrophy.
One study found that up to 25% of infants who required
prolonged ventilation died during the first year of life.2
Other associated medical problems in patients with type
1 and type 2 myotonic dystrophy include cataracts, gonadal
atrophy, diabetes, and cardiac arrhythmias.5,10 Annual elec-
trocardiography has been recommended to monitor for
cardiac involvement.17 Anesthesia poses great risks for
patients with myotonic dystrophy, pulmonary complica-
tions are common, and these patients are predisposed to
malignant hyperthermia.4,16,22
Treatment and Prognosis
No effective medical treatment is available for patients with
either type of myotonic dystrophy. Creatine supplementa-
tion does not influence strength in these patients.25
The life span is shortened in most patients with congeni-
tal or type 1 myotonic dystrophy. Because of the milder
phenotype, type 2 myotonic dystrophy rarely results in
premature death.20
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1997.
17. Phillips MF, Harper PS: Cardiac disease in myotonic dystrophy,
Cardiovasc Res 33:13, 1997.
18. Ranum LP, Day JW: Myotonic dystrophy: RNA pathogenesis comes
into focus, Am J Hum Genet 74:793, 2004.
19. Ray S, Bowen JR, Marks HG: Foot deformity in myotonic dystro-
phy, Foot Ankle 5:125, 1984.
20. Ricker K: Myotonic dystrophy and proximal myotonic myophathy,
J Neurol 246:334, 1999.
21. Roig M, Balliu PR, Navarro C, et al: Presentation, clinical course,
and outcome of the congenital form of myotonic dystrophy,
Pediatr Neurol 11:208, 1994.
22. Rosenbaum HK, Miller JD: Malignant hyperthermia and myotonic
disorders, Anesthesiol Clin North America 20:623, 2002.
23. Spranger M, Spranger S, Tischendorf M, et al: Myotonic dystro-
phy. The role of large triplet repeat length in the development of
mental retardation, Arch Neurol 54:251, 1997.
24. Tachi N, Kozuka N, Ohya K, et al: CTG repeat size and histologic
findings of skeletal muscle from patients with congenital myotonic
dystrophy, J Child Neurol 11:430, 1996.
25. Tarnopolsky M, Mahoney D, Thompson T, et al: Creatine mono-
hydrate supplementation does not increase muscle strength, lean
body mass, or muscle phosphocreatine in patients with myotonic
dystrophy type 1, Muscle Nerve 29:51, 2004.
26. Themistocleous GS, Sapkas GS, Papagelopoulos PJ, et al:
Scoliosis in Steinert syndrome: a case report, Spine J 5:212,
2005.
Metabolic Diseases of Muscle
Transient and recurring weakness or paralysis of skeletal
muscles may occur in the familial or sporadic forms of
metabolic diseases of muscle. Research has established that
several forms of myotonia and periodic paralysis can result
from mutations in “ion channel” genes, such as skeletal
muscle calcium,10,12 chloride, and sodium6,11 channel genes.8
Thomsen myotonia (also known as myotonia congenita)
results from mutations in a chloride channel gene. Hypoka-
lemic periodic paralysis results from mutations in a calcium
channel gene. Paramyotonia congenita, also known as
CHAPTER 39  Muscle Diseases e349
hyperkalemic periodic paralysis, and an uncommon subtype
of hypokalemic periodic paralysis result from mutations in
a sodium channel gene. Another disease, McArdle syn-
drome, is a rare disorder of muscle glycogen metabolism.
Thomsen Myotonia
Thomsen myotonia, or myotonia congenita, is a rare con-
genital condition characterized by myotonia of the entire
voluntary musculature.14 After voluntary contraction of a
muscle (e.g., gripping the hand), individuals are unable to
quickly relax the muscle.
The disease is transmitted as an autosomal dominant
trait, with males and females affected equally. The gene for
Thomsen disease has been located on chromosome 7q35 in
the region of the human skeletal muscle chloride channel
gene (CNCL1 gene).1,2,7 This gene is different from the one
responsible for myotonic dystrophy, hence the differing
clinical courses of the two diseases.
Pathology
The muscle fibers in Thomsen disease are hypertrophied.
Dystrophic changes are not seen.17
Clinical Features
The clinical severity of Thomsen myotonia is variable. One
study found that 10% of patients with documented genetic
mutations had no clinical symptoms.3 In other individuals,
myotonia may be noted in infancy or early childhood. A
history of developmental delay may be present. The initial
complaints are difficulty commencing activity and stiffness
following rest, difficulty walking or running after prolonged
sitting, frequent falling, and clumsiness. The lower limbs
are affected more than the upper extremities. The myoto-
nia is worse at the beginning of an activity and lessens with
repetitive movement.
The characteristic physical finding is myotonia, which
can be noted when the surface of any muscle is struck
sharply with a reflex hammer. The stimulated area of the
muscle contracts and remains contracted for several
seconds before relaxing. Another way to demonstrate myo-
tonia is to ask the patient to rapidly open a tightly clenched
fist. Muscle weakness and endocrine abnormalities are not
seen in this disease. Findings on neurologic examination are
otherwise normal. Diffuse hypertrophy of the muscles
develops and results in a “Herculean” appearance, which
may be present in early childhood or may develop over
time.
Laboratory Findings
EMGs show myotonia. Serum CK and aldolase levels are
normal.
Differential Diagnosis
The primary entities to be distinguished from myotonia
congenita are myotonic dystrophy and paramyotonia con-
genita of Eulenburg (Table 39-3).
Disability is minimal. The disease is not progressive, and
patients remain ambulatory. Drug therapy is not necessary
for all affected individuals. Many learn to live with the
myotonia by “warming up” the muscles before commencing
activity.
e350 SECTION VI  Neuromuscular Disorders

Table 39-3  Clinical Findings in Children With Myotonia

Myotonia Congenita Paramyotonia Congenita
(Thomsen Disease) (Paramyotonia of Eulenburg) Myotonic Dystrophy

Age at onset Childhood or infancy Infancy or early childhood Childhood to adulthood

Inheritance Autosomal dominant (¼ of cases)
Recessive gene often (Becker)
Sex incidence Males and females equally
affected
Precipitating factors Voluntary movement after
prolonged sitting or inactivity
Clinical Findings
  Muscle group involved Generalized
Difficulty walking or running after
prolonged sitting
Clumsiness
  Response to activity Improves myotonia
  Muscle hypertrophy Present (“Herculean” appearance)
  Endocrine, cardiac, None
other abnormalities
Laboratory Findings
  Serum potassium level Normal
  Creatine kinase, Normal
aldolase levels
  Creatine clearance Increased
  EMG Rapid volley of action potentials
on insertion of electrode into
myotonic muscle
Histologic findings Hypertrophy of muscle fibers
No dystrophic changes
Treatment Quinine hydrochloride and
procaine amide effective
Prognosis Disability minimal
Condition remains static
Autosomal dominant
Males and females equally
affected
Exposure to cold
Proximal muscles of limbs,
eyelids, and tongue
Intermittent attacks of
weakness may last from a
few minutes to 24 hr
Myotonia precedes weakness
Aggravates myotonia
Absent
None
High normal or elevated
Normal
Normal
Rapid volley of action
potentials on insertion of
electrode into myotonic
muscle
Similar to myotonic dystrophy
Not available
Calcium gluconate may abort
an attack
Improves with age
Nonprogressive
Autosomal dominant
Males and females equally
affected
Voluntary movement
Muscles in face, tongue, and
distal ends of limbs,
particularly the upper limbs
Aggravates myotonia and
fatigue-affected muscles
Muscles atrophic
Testicular atrophy, ECG changes
Frontal baldness, mental
retardation
Normal
Elevated
Decreased
Rapid volley of action potentials
of varying amplitude on
insertion of electrode into
myotonic muscle
Dystrophic changes (see text)
No specific treatment
Progressive, moderate disability
over a period of many years

ECG, Electrocardiographic; EMG, electromyography.

McArdle syndrome, or myophosphorylase deficiency, is
a rare disorder of muscle glycogen metabolism that begins
in childhood with muscle pain, cramping, weakness, and
myoglobinuria following exercise. It is also known as glyco-
gen storage disease type V. As is the case with most enzyme
deficiencies, the condition is transmitted by an autosomal
recessive gene located on chromosome 11.15 The most
common mutation is the R49X mutation, which can be
identified by a blood test in suspected individuals.5 The
underlying pathophysiology of McArdle syndrome is an
absence of myophosphorylase, an enzyme that splits off the
terminal glucose molecule from glycogen. As a result, gly-
cogen cannot be metabolized to lactate. The absence of
myophosphorylase can be established by histochemical
staining of muscle. Muscle biopsy reveals an abnormal accu-
mulation of glycogen.4 Laboratory tests show that blood
lactate and pyruvate levels fail to rise following exercise.
Myoglobinuria is present in many cases. Serum CK levels
are elevated.
The clinical severity of the disease varies, and to date,
this variability has not been explained by the molecular basis
of the mutations responsible for the disease.13 Any muscle
can be affected. While walking, the calf and thigh muscles
are involved; while chewing, the masseter muscles are
affected. The muscles become stiff and remain so for
varying periods. The more strenuous the exercise, the more
prolonged the symptoms. Muscular ischemia exacerbates
the disease. Perfusion studies have demonstrated that
patients with McArdle syndrome do not have a normal
increase in blood flow to the muscle with exercise.9
Treatment consists of limiting excessive strenuous physi-
cal activity. A placebo-controlled trial of oral creatine sup-
plementation showed improved skeletal muscle function in
patients with McArdle disease.16

References
Metabolic Diseases of Muscle
1. Abdalla JA, Casley WL, Cousin HK, et al: Linkage of Thomsen
disease to the T-cell-receptor beta (TCRB) locus on chromosome
7q35, Am J Hum Genet 51:579, 1992.
2. Abdalla JA, Casley WL, Hudson AJ, et al: Linkage analysis
of candidate loci in autosomal dominant myotonia congenita,
Neurology 42:1561, 1992.
3. Angelini C, Fanin M, Freda MP, et al: Prognostic factors in mild
dystrophinopathies, J Neurol Sci 142:70, 1996.
4. Byard RW, Lach B, Preston DN: Peripheral nerve and vasculature
involvement in myophosphorylase deficiency (McArdle’s disease),
Pathology 23:62, 1991.
5. Dimaur S, Andreu AL, Bruno C, et al: Myophosphorylase defi-
ciency (glycogenosis type V; McArdle disease), Curr Mol Med
2:189, 2002.
6. Fontaine B, Khurana TS, Hoffman EP, et al: Hyperkalemic periodic
paralysis and the adult muscle sodium channel alpha-subunit gene,
Science 250:1000, 1990.
7. George AL Jr, Crackower MA, Abdalla JA, et al: Molecular basis
of Thomsen’s disease (autosomal dominant myotonia congenita),
Nat Genet 3:305, 1993.
8. Heatwole CR, Moxley RT 3rd: The nondystrophic myotonias,
Neurotherapeutics 4:238, 2007.
9. Jehenson P, Leroy-Willig A, de Kerviler E, et al: Impairment of the
exercise-induced increase in muscle perfusion in McArdle’s
disease, Eur J Nucl Med 22:1256, 1995.
10. Jurkat-Rott K, Lehmann-Horn F, Elbaz A, et al: A calcium channel
mutation causing hypokalemic periodic paralysis, Hum Mol Genet
3:1415, 1994.
11. Kelly P, Yang WS, Costigan D, et al: Paramyotonia congenita and
hyperkalemic periodic paralysis associated with a Met 1592 Val
substitution in the skeletal muscle sodium channel alpha subunit—
a large kindred with a novel phenotype, Neuromuscul Disord
7:105, 1997.
12. Lapie P, Lory P, Fontaine B: Hypokalemic periodic paralysis:
an autosomal dominant muscle disorder caused by mutations
in a voltage-gated calcium channel, Neuromuscul Disord 7:234,
1997.
13. Martinuzzi A, Sartori E, Fanin M, et al: Phenotype modulators in
myophosphorylase deficiency, Ann Neurol 53:497, 2003.
14. Thomsen J: Tonische Krampfe in willkurlich beweglichen Musklen
in Folge von Erebter psychischer Disposition (Ataxia muscularis?),
Arch Psychiatr Nervenkr 6:706, 1876.
15. Tsujino S, Shanske S, DiMauro S: Molecular genetic heterogeneity
of myophosphorylase deficiency (McArdle’s disease), N Engl J
Med 329:241, 1993.
16. Vorgerd M, Grehl T, Jager M, et al: Creatine therapy in myophos-
phorylase deficiency (McArdle disease): a placebo-controlled
crossover trial, Arch Neurol 57:956, 2000.
17. Wohlfart G: Dystrophia myotonica and myotonia congenita; his-
topathologic studies with special reference to changes in the
muscles, J Neuropathol Exp Neurol 10:109, 1951.
Polymyositis and Dermatomyositis
Juvenile dermatomyositis and polymyositis are childhood
inflammatory myopathies that usually affect children
between 2 and 15 years of age. The diseases are manifested
as severe proximal muscle weakness, and in dermatomyosi-
tis a characteristic cutaneous rash is present. Juvenile der-
matomyositis is far more common than polymyositis in
children.31 The prevalence of dermatomyositis is 1 to 3.2
cases per million children.13 The mean age at diagnosis is
6.8 years. Girls are affected five times more frequently than
CHAPTER 39  Muscle Diseases e351
boys.27 About one sixth of cases of polymyositis occur in
children.
Etiology
In polymyositis and dermatomyositis, humoral and cellular
immune function is disrupted, and research suggests an
underlying disturbance in immunoregulation.15 Most intrigu-
ing is evidence of a viral agent that is capable of precipitating
an ongoing, immunologically mediated reaction that damages
muscles and endothelial cells.24 However, there is no
concrete evidence of viral invasion of muscle in these
conditions.15
The current theory about the pathogenesis of dermato-
myositis is that the condition is an autoimmune microangi-
opathy that results in muscle ischemia and necrosis.1 In
other words, the main immune response appears to be
humoral and directed against the microvasculature. In poly-
myositis, cytotoxic CD8+ T cells and macrophages invade
and eventually destroy muscle fibers that express major
histocompatibility complex class 1 antigens.5,8
A strong association between polymyositis and neoplasm
has been noted in adults, but childhood polymyositis is
rarely a paraneoplastic phenomenon.26 Polymyositis is a
rarely reported complication of chronic graft-versus-host
disease (GVHD), but it does not affect the patient’s overall
prognosis. In some cases, polymyositis may be the only
manifestation of chronic GVHD.19
Diagnosis
The definitive diagnosis is often delayed, with a mean
4-month delay reported in one study.27 Criteria for the
diagnosis of polymyositis and dermatomyositis are as
follows: (1) symmetric, progressive weakness of the limb-
girdle and sternocleidomastoid muscles; (2) histologic evi-
dence of muscle necrosis in a perifascicular distribution,
with perivascular inflammatory exudate noted on biopsy
specimens; (3) elevated serum CK levels; (4) EMG findings
of small polyphasic motor units, fibrillation, and repetitive
discharges; and (5) rash on the face, neck, and extensor
surfaces of the limbs.3,4 In polymyositis, the first four crite-
ria must be present. In dermatomyositis, the rash plus three
other criteria are necessary for diagnosis.
In polymyositis a muscle biopsy is needed, whereas in
dermatomyositis only a skin biopsy is necessary, although
muscle biopsy may be used to direct medical treatment.
Multiple percutaneous needle muscle biopsies are as effec-
tive as single-site open biopsies in establishing the diagnosis
of polymyositis.9 MRI is also useful in diagnosis to docu-
ment the extent of muscle involvement (Fig. 39-24).10 Enti-
ties to be excluded when a diagnosis of polymyositis or
dermatomyositis is entertained include muscular dystrophy,
spinal muscular atrophy, hereditary metabolic myopathies
such as McArdle disease, myasthenia gravis, rhabdomyoly-
sis, and inflammatory myopathies such as viral myositis and
sarcoid myopathy.32
Pathology
Muscle biopsy sites must be selected carefully. The muscle
chosen should not be markedly weakened and atrophic, nor
should it be of normal strength. Microscopic examination
of biopsy specimens reveals widespread degeneration of
muscle fibers with some regeneration present, perivascular
e352 SECTION VI  Neuromuscular Disorders
FIGURE 39-24  Magnetic resonance image of 7-year-old girl with
dermatomyositis showing diffuse myositis within all muscle
groups.
collections of chronic inflammatory cells, and phagocytosis
of necrotic muscle fibers.3 Vasculopathy with hyperplasia
of the intima of arteries and veins may be present in
dermatomyositis.1
Clinical Features
Polymyositis is a kaleidoscopic disease with diverse symp-
toms and variable modes of onset and rates of progression,
including exacerbations and remissions.
Dermatomyositis in children may have a sudden onset
and acute course, or it may have an insidious beginning
and follow a chronic course. Febrile illness is frequently
present before dermatomyositis (and polymyositis). Expo-
sure to sunlight may exacerbate the rash associated with
dermatomyositis.
The initial symptom is muscle weakness, first noted in
the proximal musculature of the pelvic and shoulder girdles.
Patients have difficulty rising from the floor and climbing
stairs. The affected muscles become tender and brawny.
Pain is most common in the shoulders, upper part of the
back, arms, and thighs. As the disease progresses, shoulder
abduction becomes difficult. If the sternocleidomastoid
muscle is involved, the patient cannot lift the head from
the bed when in the supine position. Involvement of the
pharyngeal muscles may cause dysphagia and difficulty
eating. If the muscle weakness spreads, the patient may lose
the ability to walk or sit. Progressive involvement may lead
to death, but this is uncommon.
The skin changes in dermatomyositis are characteristic.
The rash consists of a dusky or faint erythema over the
bridge of the nose and the malar areas in a butterfly dis­
tribution (Fig. 39-25, A). A dark purple discoloration of
the upper eyelids (heliotrope eyelids) is pathognomonic
for dermatomyositis (Fig. 39-25, B). The periorbital rash
may spread to the neck and upper part of the chest. The
extensor surfaces of the elbows, knees, and metacarpopha-
langeal joints and the area over the medial malleoli become
erythematous, atrophic, and scaly. Scaly lesions over the
knuckles of the hand are termed the Gottron sign (Fig.
39-25, C). A flat, erythematous rash can appear on the face,
neck, shoulders, and back (shawl sign). Hyperemia at the
base of the fingernails may be present, and the skin of the
fingertips may be shiny, red, and atrophic (Fig. 39-25, D).
Nonpitting edema develops in the acute stage of the disease.
During the chronic stage, the skin becomes atrophic and
adherent to underlying structures.
Calcium deposits may develop in the subcutaneous
tissues, muscles, and fasciae, sometimes causing loss of
motion (Figs. 39-26 and 39-27).17 Subcutaneous calcifica-
tion is more common in children and occurs in 30% to 70%
of those with pediatric dermatomyositis.2 In severe cases,
ulceration of the skin overlying such deposits may develop
(Fig. 39-28).
Arthritis and synovitis of the knees, wrists, and small
joints of the fingers occur in approximately 60% of patients
with dermatomyositis.30 Arthritis develops, on average, 4.5
months after the onset of dermatomyositis. In a minority
of cases, synovitis precedes muscle weakness. The Raynaud
phenomenon—blanching or cyanosis of the fingers on expo-
sure to cold—may also be present.
Systemic effects of dermatomyositis are common. Pneu-
monitis, myocarditis or pericarditis, nephritis, or gastroin-
testinal ischemia may be associated with dermatomyositis.
Interstitial lung disease can occur in children and is mani-
fested as cough or dyspnea.2 Patients with interstitial lung
disease are likely to experience arthralgias and to have the
anti–Jo-1 antibody.12 Central nervous system involvement
occurs in rare cases of pediatric dermatomyositis, possibly
because of cerebral vasculopathy.22
Laboratory Findings
Patients with acute polymyositis have a marked elevation in
serum levels of CK, aldolase, and glutamic and pyruvic
transaminases. CK levels may be up to 50 times normal.14
Laboratory findings are similar to those seen with muscular
dystrophy, and values decrease as the muscle is replaced by
fibrous tissue. The erythrocyte sedimentation rate is ele-
vated in polymyositis and dermatomyositis. Rheumatoid
factor and antinuclear antibodies are sometimes present,
but lupus erythematosus cells are usually absent. Myositis-
specific autoantibodies may be detected in some patients.2
EMG findings include (1) spontaneous fibrillation and
positive or sawtooth potentials at complete rest or after
mild mechanical irritation, (2) complex polyphasic or
short-duration potentials of low amplitude with voluntary
contracture, and (3) salvos of repetitive high-frequency
potentials occurring after mechanical stimulation. These
changes on the EMG are characteristic of polymyositis but
are not absolutely specific for the condition.20
Treatment
In the acute stage of polymyositis and dermatomyositis,
when the muscles are painful, tender, and edematous, the
patient is prescribed bed rest, and moist heat is applied over
the affected muscles as tolerated. Gentle range-of-motion
exercises are performed to preserve joint motion. Splints
may be needed if contractures develop. Studies have shown
 CHAPTER 39  Muscle Diseases e353

A B

C D
FIGURE 39-25  Characteristic skin changes with dermatomyositis. A, Rash consisting of a dusky or faint erythema over the bridge of the
nose and malar areas in a butterfly distribution. B, Dark purple discoloration of the upper eyelids (heliotrope eyelids). C, Scaly lesions over
the knuckles of the hand (Gottron sign). D, Hyperemia at the base of the fingernails. The skin of the fingertips is shiny, red, and atrophic.

A B
FIGURE 39-26  A and B, Subcutaneous calcifications resulting in elbow stiffness in an adolescent with dermatomyositis.
e354 SECTION VI  Neuromuscular Disorders
FIGURE 39-27  Ectopic calcification of the knee in a patient with
dermatomyositis.
FIGURE 39-28  Multiple ulcerations around the elbow of a child
with subcutaneous calcification secondary to dermatomyositis.
that 2 to 3 weeks after an acute exacerbation of the disease,
participation in an exercise program can lead to improve-
ments in muscle strength.30
Medical treatment of polymyositis and dermatomyositis
consists of immunosuppressant therapy, beginning with cor-
ticosteroids and methotrexate.11,33 Prednisone is used to
diminish the acute inflammatory reaction and relieve pain.
Serum CK levels are monitored to follow the therapeutic
response. Return of CK levels to normal may be a favorable
prognostic sign. Intravenous immune globulin has been
useful in some patients.2,4,10,16,21,23 Plasmapheresis and thy-
mectomy18,25 have also been performed occasionally to treat
polymyositis and dermatomyositis.
The arthritis associated with the inflammatory myopa-
thies usually responds to systemic steroid therapy. Resistant
cases may require intraarticular steroid injections.28
In patients with interstitial lung disease, it is important
to make the diagnosis as soon as possible and to initiate
treatment at once. High-resolution computed tomography
(CT) scans and pulmonary function tests can establish the
presence of lung involvement. Prompt immunosuppressive
treatment is needed to prevent chronic pulmonary fibrosis,
which may lead to early death.7
In later stages of the disease, excision of mature intra-
muscular calcification can improve mobility and muscle
function. Calcification may recur postoperatively.
Prognosis
The results from a number of long-term follow-up studies
have been reported.6 In a 10-year follow-up, Collison and
associates3a reported that 58% of patients had at least one
residual finding on physical examination and that 78% of
those with juvenile dermatomyositis had residual dermato-
logic sequelae.6 In a study of 33 patients with juvenile
dermatomyositis or polymyositis at a mean follow-up of 4
years, 45% experienced complete recovery, 26% went into
remission (steroid dependency), other connective tissue
diseases developed in 10%, 6% were wheelchair dependent,
and 3% had died.29 In that study, patients with the highest
CK levels had the worst outcomes. Early diagnosis and
treatment lead to the greatest likelihood of recovery or
remission. Overall, the prognosis for children with inflam-
matory myopathies is much better than that for adults with
the same conditions.6
References
Polymyositis and Dermatomyositis
1. Adams R, Denny-Brown D, Pearson C: Diseases of muscle: a study
of pathology, New York, 1962, Hoeber.
2. Amato AA, Barohn RJ: Idiopathic inflammatory myopathies,
Neurol Clin 15:615, 1997.
3. Carpenter S, Karpati G: The pathological diagnosis of specific
inflammatory myopathies, Brain Pathol 2:13, 1992.
3a.  Collison CH, Sinal SH, Jorizzo JL, et al: Juvenile dermatomyositis
and polymyositis: a follow-up study of long-term sequelae, South
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4. Dalakas MC: Update on the use of intravenous immune globulin
in the treatment of patients with inflammatory muscle disease,
J Clin Immunol 15(6 Suppl):70S, 1995.
5. Dalakas MC, Hohlfeld R: Polymyositis and dermatomyositis,
Lancet 362:971, 2003.
6. Danko K, Ponyi A, Constantin T, et al: Long-term survival of
patients with idiopathic inflammatory myopathies according to
clinical features: a longitudinal study of 162 cases, Medicine (Bal-
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7. Fathi M, Lundberg IE: Interstitial lung disease in polymyositis and
dermatomyositis, Curr Opin Rheumatol 17:701, 2005.
8. Figarella-Branger D, Civatte M, Bartoli C, et al: Cytokines, che-
mokines, and cell adhesion molecules in inflammatory myopathies,
Muscle Nerve 28:659, 2003.
9. Haddad MG, West RL, Treadwell EL, et al: Diagnosis of inflamma-
tory myopathy by percutaneous needle biopsy with demonstration
of the focal nature of myositis, Am J Clin Pathol 101:661, 1994.
10. Huber AM: Juvenile dermatomyositis: advances in pathogenesis,
evaluation, and treatment, Paediatr Drugs 11:361, 2009.
11. Huber AM, Giannini EH, Bowyer SL, et al: Protocols for the initial
treatment of moderately severe juvenile dermatomyositis: results
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12. Kang EH, Lee EB, Shin KC, et al: Interstitial lung disease in
patients with polymyositis, dermatomyositis and amyopathic der-
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13. Koler RA, Montemarano A: Dermatomyositis, Am Fam Physician
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14. Lundberg I, Ulfgren AK, Nyberg P, et al: Cytokine production in
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15. Mastaglia FL, Ojeda VJ: Inflammatory myopathies: Part 1, Ann
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16. Mastaglia FL, Phillips BA, Zilko P: Treatment of inflammatory
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17. Maugars YM, Berthelot JM, Abbas AA, et al: Long-term prognosis
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18. Oddis CV: Therapy for myositis, Curr Opin Rheumatol 3:919,
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19. Parker P, Chao NJ, Ben-Ezra J, et al: Polymyositis as a manifesta-
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20. Pearson CM: Polymyositis and related disorders. In Walton J,
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21. Pistoia V, Buoncompagni A, Scribanis R, et al: Cyclosporin A in
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22. Ramanan AV, Sawhney S, Murray KJ: Central nervous system
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23. Rider LG, Miller FW: Classification and treatment of the juvenile
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23:619, 1997.
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34:732, 1995.
28. Tse S, Lubelsky S, Gordon M, et al: The arthritis of inflammatory
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polymyositis: a retrospective analysis of 33 cases with special focus
on initial CPK levels, Clin Exp Rheumatol 12:339, 1994.
30. Varju C, Petho E, Kutas R, et al: The effect of physical exercise
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31. Wedderburn LR, Li CK: Paediatric idiopathic inflammatory muscle
disease, Best Pract Res Clin Rheumatol 18:345, 2004.
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North Am 28:759, 2002.
33. Yoshioka M, Okuno T, Mikawa H: Prognosis and treatment of
polymyositis with particular reference to steroid resistant patients,
Arch Dis Child 60:236, 1985.
Myositis Ossificans
Myositis ossificans is characterized by heterotopic calcifica-
tion and ossification in muscle tissue. Injury is an important
factor in its pathogenesis.7 The process most likely repre-
sents metaplasia of fibroblasts at the site of injury. When
the condition is not associated with a traumatic injury,
the term pseudomalignant myositis ossificans has been
applied.20,32
Myositis ossificans is most common in teenagers, but it
has also been described in younger children. The disorder
has rarely been reported to occur in infants and new-
CHAPTER 39  Muscle Diseases e355
borns.18,21,36 Myositis ossificans has been described in asso-
ciation with child abuse.6
Classification
The condition can be subdivided into several types. The first
type, traumatic myositis ossificans, follows a single severe
injury, such as an elbow fracture or dislocation or extremity
surgery.3,8 This posttraumatic form may develop in adoles-
cent boys who sustain quadriceps contusions while playing
football.23 Seventy-five percent of patients with myositis
ossificans report a history of trauma.35
The second type of myositis ossificans develops as a
result of repeated microtrauma and overuse injuries. This
type usually occurs in athletic adolescents and young adults.
An example is heterotopic bone formation in the soleus
muscle in ballerinas.
Third, myositis ossificans can complicate the clinical
course of severe neurologic disorders, such as Guillain-
Barré syndrome,22 acquired immunodeficiency syndrome–
associated encephalopathy,14 and more commonly, closed
head or spinal cord injury.41 The average time between the
traumatic neurologic insult and the onset of myositis ossifi-
cans in children is 4 months. In a comparison of children
with traumatic brain injuries and those with hypoxic brain
injuries, myositis ossificans was more likely to develop in
children who had suffered hypoxia.19 Myositis ossificans is
likely to be much more extensive when it is associated with
neurologic conditions.26
Finally, myositis ossificans can result from extensive
burns and from muscular bleeding in individuals with
hemophilia.29
Pathology
The pathology of myositis ossificans is most notable for the
presence of four histologic zones1: (1) a central, undiffer-
entiated zone that is highly cellular, with mitotic figures and
extreme variation in the size and shape of cells; (2) an
adjacent zone in which well-oriented zones of cellular
osteoid are separated by loose cellular stroma; (3) a more
peripheral zone showing new bone formation with osteo-
blasts and fibrous tissue undergoing trabecular organization;
and (4) an outermost zone of well-oriented bone encapsu-
lated by fibrous tissue.
Histologically, the lesion appears more benign at the
periphery and very abnormal (with mitotic figures resem-
bling osteosarcoma) in the center. This is distinctly different
from osteosarcoma, in which the periphery or leading edge
of the tumor does not appear more organized and has
malignant cellular characteristics. As the heterotopic bone
matures, the involved area becomes smaller.
The lesions of myositis ossificans are white and glistening
on gross appearance and gritty in texture.20 Compressed
muscle may be present around the lesion, but the mass is
clearly delineated from the surrounding tissues.32
Clinical Features
Physical findings consist of tenderness over the affected
area, palpable swelling, pain on range of motion, and stiff-
ness. The limb may have increased warmth. It is not uncom-
mon for the patient to have a fever.2 If persistent local
discomfort and marked limitation of motion 3 weeks after
a posterior dislocation of the elbow are noted, myositis
e356 SECTION VI  Neuromuscular Disorders
ossificans may be present. The pain and swelling of myositis
ossificans may mimic an infection.2,30
Radiographic Findings
Initial radiographic findings are normal, but by 10 days to
4 weeks, fine calcifications can be seen in the muscle,
referred to as the “dotted veil appearance.”10,16 Over time,
the calcification increases; the entire calcified mass then
appears to shrink and become more dense. The process is
self-limited, with the course varying from a few weeks to
several months. Periosteal reaction may be seen in the
underlying bone, but no erosion of the bony cortex devel-
ops. The mass may be connected to the underlying bone by
a thin stalk or a broad base, but it is generally separated
from the underlying bone by at least a thin line.5,32 The
lesions are usually located in the diaphysis (Fig. 39-29).
A bone scan with technetium-99m shows increased
uptake in the heterotopic bone that is forming. Abnormal
uptake can be seen on the bone scan before plain films show
calcification.42 Thallium and gallium scintigraphy also shows
abnormal uptake in myositis ossificans33,39; however, neither
study can differentiate myositis ossificans from tumor.
Abnormal findings can also be seen on ultrasonography
before changes are evident on plain films.37 Calcification
may first be noted on ultrasonography, and a focal,
hypoechoic mass located within the muscle may be seen.25
The MRI characteristics of myositis ossificans have been
described elsewhere.34 A rim with low signal intensity is a
common finding. Surrounding edema can be seen with
FIGURE 39-29  Posttraumatic myositis ossificans of the thigh. Note
the mature bone at the periphery of the calcified lesion.
relatively new lesions.27 These patterns are not unique to
myositis ossificans, however, and resemble those reported
with other lesions. The MRI appearance of the lesion
changes with the acuity of the mass.13,27 Use of gadolinium
may help differentiate myositis ossificans from osteogenic
sarcoma.11
CT scans of myositis ossificans clearly delineate the
peripheral ossification and central lucency of the masses.4
Separation of the lesion from the underlying bone is best
seen on CT. If the lesion is in continuity with the bone, it
is not myositis ossificans, and the possibility of tumor or
infection arises.
In summary, although myositis ossificans has certain
imaging characteristics on CT, MRI, and ultrasonography, it
has some overlap with the appearance of malignant tumors.
This confusion is compounded in patients with no history
of significant trauma. A combination of imaging techniques
is most useful in differentiating infection and neoplasm
from heterotopic ossification.17
Differential Diagnosis
Myositis ossificans is distinct from metastatic calcification,
which occurs as a result of hypercalcemia.44 It must be dif-
ferentiated from fibrodysplasia ossificans progressiva, an
inherited condition characterized by relentless ossification
of all skeletal muscle throughout childhood. Myositis ossi-
ficans must also be distinguished from infections, such as
osteomyelitis or soft tissue abscess, and from tumors, such
as osteogenic sarcoma, parosteal osteosarcoma, and rhabdo-
myosarcoma4,15 The correct diagnosis can usually be made
from imaging studies. When myositis ossificans is believed
to be the most likely diagnosis, serial radiographs can be
obtained to follow the evolution and maturation of the
mass.
In equivocal cases, biopsy may be necessary to document
the different zones of histology associated with myositis
ossificans. Although fine-needle biopsy has been successful
in establishing the diagnosis,12,28,38 extreme care must be
taken when interpreting the results because such biopsies
do not procure enough specimen to demonstrate the zonal
architecture of the mass.24,31,32,45 The histologic findings in
a single biopsy specimen taken from the center of a myositis
ossificans lesion can strongly resemble those of osteosar-
coma. Unnecessary ablative surgery, such as amputation, has
been performed in cases of myositis ossificans that were
diagnosed incorrectly.32
Treatment
Treatment should be conservative. Nonsteroidal antiinflam-
matory medication can control pain. Any physical therapy
should be discontinued because persistent passive stretch-
ing to regain motion will exacerbate the myositis. Relative
rest of the affected extremity is helpful, with motion and
activity gradually resumed as the acute phase subsides.
Radiation should be avoided in children.
Jackson and Feagin proposed a three-phase treatment
plan for patients at risk for myositis ossificans of the quad-
riceps following thigh contusions.23 The first phase consists
of limiting motion and icing the extremity while avoiding
heat or massage. When quadriceps control is regained, the
second phase begins, and the patient is encouraged to
perform knee extensions and slowly regain flexion. The

third phase starts when the patient has 90 degrees of motion
and consists of progressive resistance exercises and noncon-
tact sports.
Spontaneous resolution of myositis ossificans has been
reported in up to 38% of lesions.32,40,43 Surgery is not gener-
ally necessary to remove the calcified lesion.9 Once the
process has matured, symptomatic masses can be excised if
they are painful or interfere with motion; calcification may
recur, however. Surgery is not performed until a year or so
after the acute stage of the disease, at a time when radio-
graphs reveal that the heterotopic bone is fully mature and
bone scans show either a return to normal uptake or decreas-
ing activity in the lesion.
References
Myositis Ossificans
1. Ackerman LV: Extra-osseous localized non-neoplastic bone and
cartilage formation (so-called myositis ossificans): clinical and
pathological confusion with malignant neoplasms, J Bone Joint Surg
Am 40:279, 1958.
2. Adderson EE, Bohnsack JF: Traumatic myositis ossificans simulat-
ing soft tissue infection, Pediatr Infect Dis J 15:551, 1996.
3. Akgun I, Erdogan F, Aydingoz O, et al: Myositis ossificans in early
childhood, Arthroscopy 14:522, 1998.
4. Amendola MA, Glazer GM, Agha FP, et al: Myositis ossificans
circumscripta: computed tomographic diagnosis, Radiology
149:775, 1983.
5. Beiner JM, Jokl P: Muscle contusion injuries: current treatment
options, J Am Acad Orthop Surg 9:227, 2001.
6. Ben-Youssef L, Schmidt TL: Battered child syndrome simulating
myositis, J Pediatr Orthop 3:392, 1983.
7. Best TM: Muscle-tendon injuries in young athletes, Clin Sports
Med 14:669, 1995.
8. Booth DW, Westers BM: The management of athletes with myo-
sitis ossificans traumatica, Can J Sport Sci 14:10, 1989.
9. Carlson WO, Klassen RA: Myositis ossificans of the upper extrem-
ity: a long-term follow-up, J Pediatr Orthop 4:693, 1984.
10. Cushner FD, Morwessel RM: Myositis ossificans in children,
Orthopedics 18:287, 1995.
11. Cvitanic O, Sedlak J: Acute myositis ossificans, Skeletal Radiol
24:139, 1995.
12. de Almeida MM, Abecassis N, Almeida MO, et al: Fine-needle
aspiration cytology of myositis ossificans: a case report, Diagn
Cytopathol 10:41, 1994.
13. De Smet AA, Norris MA, Fisher DR: Magnetic resonance imaging
of myositis ossificans: analysis of seven cases, Skeletal Radiol
21:503, 1992.
14. Drane WE, Tipler BM: Heterotopic ossification (myositis ossifi-
cans) in acquired immune deficiency syndrome. Detection by
gallium scintigraphy, Clin Nucl Med 12:433, 1987.
15. Gebhardt MC, Ready JE, Mankin HJ: Tumors about the knee in
children, Clin Orthop Relat Res 255: 86, 1990.
16. Geschickter C, Ready JE: Myositis ossificans, J Bone Joint Surg
20:661, 1938.
17. Gindele A, Schwamborn D, Tsironis K, et al: Myositis ossificans
traumatica in young children: report of three cases and review of
the literature, Pediatr Radiol 30:451, 2000.
18. Heifetz SA, Galliani CA, DeRosa GP: Myositis (fasciitis) ossificans
in an infant, Pediatr Pathol 12:223, 1992.
19. Heindl UT, Laub MC: Outcome of persistent vegetative state fol-
lowing hypoxic or traumatic brain injury in children and adoles-
cents, Neuropediatrics 27:94, 1996.
20. Heinrich SD, Zembo MM, MacEwen GD: Pseudomalignant myo-
sitis ossificans, Orthopedics 12:599, 1989.
21. Howard CB, Porat S, Bar-On E, et al: Traumatic myositis ossificans
of the quadriceps in infants, J Pediatr Orthop B 7:80, 1998.
CHAPTER 39  Muscle Diseases e357
22. Hung JC, Appleton RE, Abernethy L: Myositis ossificans compli-
cating severe Guillain-Barré syndrome, Dev Med Child Neurol
39:775, 1997.
23. Jackson DW, Feagin JA: Quadriceps contusions in young athletes.
Relation of severity of injury to treatment and prognosis, J Bone
Joint Surg Am 55:95, 1973.
24. Jouve JL, Cottalorda J, Bollini G, et al: Myositis ossificans: report
of seven cases in children, J Pediatr Orthop B 6:33, 1997.
25. Kirkpatrick JS, Koman LA, Rovere GD: The role of ultrasound in
the early diagnosis of myositis ossificans. A case report, Am J Sports
Med 15:179, 1987.
26. Kluger G, Kochs A, Holthausen H: Heterotopic ossification in
childhood and adolescence, J Child Neurol 15:406, 2000.
27. Kransdorf MJ, Meis JM, Jelinek JS: Myositis ossificans: MR
appearance with radiologic-pathologic correlation, AJR Am J
Roentgenol 157:1243, 1991.
28. Layfield LJ, Anders KH, Glasgow BJ, et al: Fine-needle aspiration
of primary soft-tissue lesions, Arch Pathol Lab Med 110:420, 1986.
29. Massey GV, Kuhn JG, Nogi J, et al: The spectrum of myositis
ossificans in haemophilia, Haemophilia 10:189, 2004.
30. Merkow SJ, St Clair HS, Goldberg MJ: Myositis ossificans mas-
querading as sepsis, J Pediatr Orthop 5:601, 1985.
31. Nuovo MA, Norman A, Chumas J, et al: Myositis ossificans with
atypical clinical, radiographic, or pathologic findings: a review of
23 cases, Skeletal Radiol 21:87, 1992.
32. Ogilvie-Harris DJ, Fornasier VL: Pseudomalignant myositis ossifi-
cans: heterotopic new-bone formation without a history of trauma,
J Bone Joint Surg Am 62:1274, 1980.
33. Osmanagaoglu K, Kuyvenhoven J, Dierckx RA, et al: Thallium-201
accumulation in myositis ossificans and in juxta-articular ossifica-
tion, J Nucl Med 36:2239, 1995.
34. Parikh J, Hyare H, Saifuddin A: The imaging features of post-
traumatic myositis ossificans, with emphasis on MRI, Clin Radiol
57:1058, 2002.
35. Paterson DC: Myositis ossificans circumscripta. Report of four
cases without history of injury, J Bone Joint Surg Br 52:296, 1970.
36. Pazzaglia UE, Beluffi G, Colombo A, et al: Myositis ossificans in
the newborn. A case report, J Bone Joint Surg Am 68:456, 1986.
37. Peck RJ, Metreweli C: Early myositis ossificans: a new echographic
sign, Clin Radiol 39:586, 1988.
38. Rooser B, Herrlin K, Rydholm A, et al: Pseudomalignant myositis
ossificans. Clinical, radiologic, and cytologic diagnosis in 5 cases,
Acta Orthop Scand 60:457, 1989.
39. Salzman L, Lee VW, Grant P: Gallium uptake in myositis
ossificans. Potential pitfalls in diagnosis, Clin Nucl Med 12:308,
1987.
40. Spencer JD, Missen GA: Pseudomalignant heterotopic ossification
(myositis ossificans). Recurrence after excision with subsequent
resorption, J Bone Joint Surg Br 71:317, 1989.
41. Spencer RF: The effect of head injury on fracture healing. A quan-
titative assessment, J Bone Joint Surg Br 69:525, 1987.
42. Suzuki Y, Hisada K, Takeda M: Demonstration of myositis ossifi-
cans by 99mTc pyrophosphate bone scanning, Radiology 111:663,
1974.
43. Thorndike A: Myositis ossificans traumatica, J Bone Joint Surg
222:315, 1940.
44. Vanden Bossche L, Vanderstraeten G: Heterotopic ossification: a
review, J Rehabil Med 37:129, 2005.
45. Wakely PE Jr, Almeida M, Frable WJ: Fine-needle aspiration
biopsy cytology of myositis ossificans, Mod Pathol 7:23, 1994.
Progressive Fibrosis of the Quadriceps
Progressive fibrosis of the quadriceps muscle is a condition
in which extension contracture of the knee develops in early
childhood as a result of fibrosis of one or more components
e358 SECTION VI  Neuromuscular Disorders
of the quadriceps muscle. The condition is more common
in girls than in boys.
Etiology
The exact cause of progressive fibrosis of the quadriceps is
not known. Gunn first proposed that it was a sequela of
multiple injections of antibiotics into the thigh muscles
during early infancy.6 This possible cause has been reported
by others.4,14,16 Nearly all affected children have a history
of serious illness during early infancy.14 Similar fibrotic
changes with contractures have been seen in the gluteal and
deltoid muscles following intramuscular injections.3,5,9,11
Fibrosis in the gluteus maximus causes abduction-extension
contractures of the hips,7 and deltoid fibrosis results in
abduction contractures of the shoulder along with scapular
winging.
Pathophysiology
The pathophysiology of progressive fibrosis is speculative.
It has been proposed that the volume of drug injected in
very young infants compresses the capillaries and muscle
fibers and causes muscle ischemia, which leads to fibrotic
changes. Local necrosis may occur as a result of focal disrup-
tion of fibers at the site of injection. The irritative nature
of the injected drug may also play a role in producing
fibrosis.8
Clinical Features
The clinical hallmark of progressive fibrosis of the quadri-
ceps is painless, progressive limitation of both active and
passive knee flexion with an extension contracture.2 The
vastus intermedius is most commonly involved. Fibrosis
occurs more distally than proximally, within and between
the muscle fibers. A dimple in the skin may be present
because of the rigid, fibrous septa that extend between
the skin and the deep fascia; the dimple deepens with
forced flexion of the knee. Range of motion is painless
within the available arc. The involved muscle is atrophic,
with subcutaneous hardness and limitation of motion.
Genu recurvatum may develop in severe cases. The patella
is high riding.
Habitual dislocation of the patella may occur in chronic
cases.2 Knee flexion in these patients is accomplished
through lateral dislocation of the patella. With the patella
held within the groove of the femur, the knee cannot be
flexed. In these patients the vastus lateralis is usually
involved. This condition differs from congenital lateral dis-
location of the patella in that it is an acquired contracture
resulting from progressive fibrosis.
Treatment
Although physical therapy is often prescribed initially, it
rarely improves knee flexion significantly.10 Two different
surgical releases have been advocated for the treatment of
quadriceps fibrosis. The first is surgical release of the exten-
sion contracture by proximal division of the fibrotic muscu-
lar bands, which is often combined with transverse division
of the iliotibial tract.13 This approach is preferred in patients
younger than 10 years in whom no radiographic changes are
present in the distal end of the femur.14 The other surgical
approach is V-Y quadricepsplasty to lengthen the extensor
mechanism as a whole when the fibrosis is extensive.15
Postoperative extensor lag may be present but resolves
with time in most cases.1,12 The extensor lag is more preva-
lent following V-Y plasty than after proximal release of the
fibrotic bands.8 When the fibrosis is chronic and genu recur-
vatum is present, skeletal changes may develop in the distal
end of the femur where the articular surface points anteri-
orly. In such cases it may be necessary to perform distal
femoral flexion osteotomy to gain knee flexion and maintain
joint congruity.
References
Progressive Fibrosis of the Quadriceps
1. Alvarez EV, Munters M, Lavine LS, et al: Quadriceps myofibrosis.
A complication of intramuscular injections, J Bone Joint Surg Am
62:58, 1980.
2. Bose K, Chong KC: The clinical manifestations and pathomechan-
ics of contracture of the extensor mechanism of the knee, J Bone
Joint Surg Br 58:478, 1976.
3. Duran Sacristan H, Sanchez-Barba A, Lopez-Duran Stern L, et al:
Fibrosis of the gluteal muscles: report of three cases, J Bone Joint
Surg Am 56:1510, 1974.
4. Euliano JJ: Fibrosis of the quadriceps mechanism in children, Clin
Orthop Relat Res 70: 181, 1970.
5. Fernandez de Valderrama JA, Esteve de Miguel R: Fibrosis of the
gluteus maximus: a cause of limited flexion and adduction of the
hip in children, Clin Orthop Relat Res 156: 67, 1981.
6. Gunn DR: Contracture of the quadriceps muscle. A discussion on
the etiology and relationship to recurrent dislocation of the patella,
J Bone Joint Surg Br 46: 492, 1964.
7. Hang YS: Contracture of the hip secondary to fibrosis of
the gluteus maximus muscle, J Bone Joint Surg Am 61:52,
1979.
8. Jackson AM, Hutton PA: Injection-induced contractures of the
quadriceps in childhood. A comparison of proximal release and
distal quadricepsplasty, J Bone Joint Surg Br 67:97, 1985.
9. Jhunjhunwala HR: Abduction contracture of the deltoid muscle in
children, Int Orthop 19:289, 1995.
10. Lloyd-Roberts GC, Thomas TG: The etiology of quadriceps con-
tracture in children, J Bone Joint Surg Br 46:498, 1964.
11. Minami M, Yamazaki J, Minami A, et al: A postoperative long-term
study of the deltoid contracture in children, J Pediatr Orthop
4:609, 1984.
12. Mukherjee PK, Das AK: Injection fibrosis in the quadriceps
femoris muscle in children, J Bone Joint Surg Am 62:453,
1980.
13. Sasaki T, Fukuhara H, Iisaka H, et al: Postoperative evaluation of
quadriceps contracture in children: comparison of three different
procedures, J Pediatr Orthop 5:702, 1985.
14. Sengupta S: Pathogenesis of infantile quadriceps fibrosis and
its correction by proximal release, J Pediatr Orthop 5:187,
1985.
15. Thompson T: Quadriceps plasty to improve knee function, J Bone
Joint Surg 26:366, 1944.
16. Valdiserri L, Andrisano A, Manfrini M, et al: Post-injective quad-
riceps contracture, Ital J Orthop Traumatol 15:267, 1989.
Myasthenia Gravis
Myasthenia gravis is a rare autoimmune disease in which
antibodies are produced to the nicotinic acetylcholine
receptor at the neuromuscular junction. As a result, impulses
cannot be transmitted properly across the junction, and the
patient experiences muscle weakness or paralysis following
repetitive activity.

Incidence
The reported prevalence of myasthenia gravis in the general
population varies from 1 in 50,000 to 1 in 10,000. The
disease can be manifested at any age but is most common
in adulthood. Only approximately 10% of patients with
myasthenia gravis are children.21 In 1% of patients, myas-
thenia gravis is diagnosed before 1 year of age.8
Etiology
The exact cause of the disease is not fully understood. It is
an autoimmune disorder with antibody production against
a protein antigen at the motor end-plate. These acetylcho-
line receptor antibodies can be identified in the blood of
many affected patients, although up to 44% of young chil-
dren are seronegative on testing.3 More recent research has
established the presence of a second autoantibody targeting
muscle-specific kinase in a group of patients who were
previously thought to be seronegative.2 The thymus is con-
sidered the site of antibody production. Abnormalities of
the thymus (e.g., benign tumor, hyperplasia, persistence of
the gland) are frequently found in patients with myasthenia
gravis.
The disease appears to be regulated by hormones, with
postpubertal patients more likely to be seropositive. Addi-
tionally, the sex frequency of myasthenia gravis shifts after
puberty.3 In early childhood the ratio between females and
males is nearly equal (1.3:1), whereas after puberty, the
vast majority of patients are female (14:1). This supports
the theory that hormones play an important modulating
role.
Familial cases have been reported.7,20,23,31 Histocompati-
bility leukocyte antigen phenotypes have been studied, and
two have been linked to the therapeutic response and clini-
cal course of the disease.16
Clinical Features
Three patterns based on age at onset and clinical features
have been described in children: neonatal transient myas-
thenia gravis, congenital myasthenic syndromes, and juve-
nile myasthenia gravis.21,22
Neonatal Transient Myasthenia Gravis. This form of the
disease affects 10% to 15% of infants born to mothers who
have myasthenia gravis.8 Symptoms consist of generalized
muscle weakness, paucity of movement, weak sucking,
facial weakness, ptosis, and respiratory weakness. Failure to
thrive can be a significant problem because of the infant’s
inability to suck. The symptoms are present at birth and
begin to resolve spontaneously within approximately 4
weeks. The cause of the disease appears to be passage of
maternal antibodies to the acetylcholine receptor to the
fetus. As the antibodies are destroyed or excreted, the clini-
cal symptoms disappear, usually by 6 weeks of age. The
disease can be fatal if untreated, but affected newborns
respond to neostigmine therapy. Exchange plasmapheresis
is advocated for infants with generalized weakness,13 and
high-dose immune globulin therapy has also been used.4,12
Congenital Myasthenic Syndromes. Congenital myasthenic
syndromes are a group of genetically inherited diseases char-
acterized by an abnormal response to acetylcholine that
CHAPTER 39  Muscle Diseases e359
results in myasthenia.5,9,10,25,30 In many of these forms the
acetylcholine receptor is abnormal. Congenital myasthenic
syndromes are not autoimmune. These syndromes can
develop at any age, with diagnosis shortly after birth in some
patients. Most occur within the first year of life.27 Affected
infants have poor sucking and a weak cry.11 The clinical
course varies among the different types.27 The spectrum of
disease ranges from mild weakness to severe disability with
life-threatening respiratory compromise. Patients may have
the typical contractures of arthrogryposis multiplex con-
genita.28 Congenital contractures of the extremities may
resolve with medical treatment of the myasthenia.15 Camp-
todactyly has been reported in these patients.15 Scoliosis
may occur in older children.
Juvenile Myasthenia Gravis. In 75% of cases, the age at
onset is 10 years or older.13 Eye weakness is the most
common initial finding. Weakness of the upper and lower
extremities occurs in fewer children, with the weakness
more pronounced later in the day.13 The child is unable to
walk long distances without rest and also has difficulty
climbing stairs. Quadriceps weakness leads to frequent falls.
Gluteal weakness causes a Trendelenburg gait. Facial weak-
ness produces a sad expression or flat affect. Weakness in
mastication is due to easy fatigability of the jaw muscles.
Tongue weakness leads to dysarthria. The child speaks
clearly at first, but the words become slurred as the tongue
fatigues. Respiratory difficulty, which is known as myas-
thenic crisis, occurs in 40% of untreated patients and can
be fatal.12 Neurologic examination reveals normal sensation
and normal deep tendon reflexes. Pathologic reflexes are
absent. The natural history of juvenile myasthenia gravis is
variable. Usually the disease worsens during the first 2 years
following onset. However, patients may experience periods
of remission lasting months or even years.
Diagnosis
The key feature of myasthenia gravis is a history of muscle
weakness precipitated by activity, termed fatigability. A
positive Tensilon (edrophonium chloride) test confirms the
diagnosis. Tensilon, which is an analogue of neostigmine
(Prostigmin), has a short duration of action and is excreted
rapidly. In normal individuals, Tensilon has no effect on
muscle strength but does produce cholinergic side effects
(e.g., perspiration, salivation, lacrimation, fasciculations).
Myasthenic patients exhibit marked improvement in the
motor strength of weak muscles within 1 minute of injec-
tion of Tensilon, and cholinergic side effects are minimal.
In addition, ptosis improves after the administration of Ten-
silon.13 Five minutes after administration of the drug,
however, the beneficial effects disappear.
Electrophysiologic testing can also establish the diagnosis
of myasthenia gravis. Repetitive stimulation of the ulnar
nerve results in a decrement in magnitude of the compound
muscle action potential in 75% to 88% of children with the
disorder.29 As the ulnar nerve is stimulated, the electrical
response in the hypothenar muscles diminishes significantly
over time. The nerve may be further sensitized by
ischemia.13,29
Assays for anti–acetylcholine receptor antibodies are
available. The presence or absence of antibodies makes it
easier to distinguish the various forms of myasthenia gravis
e360 SECTION VI  Neuromuscular Disorders
and can help define the prognosis and guide treatment of
these patients.24
Treatment
Treatment of myasthenia gravis is medical, surgical, or both.
Anticholinesterase therapy with neostigmine or pyridostig-
mine bromide is often used for long-term medical manage-
ment. Glucocorticosteroids are also commonly used.
Plasmapheresis can be helpful in decreasing the amount of
antibody to acetylcholine.6 Intravenous immunoglobulin G
has been used to treat rapidly progressive weakness and
myasthenic crisis but is of limited benefit as long-term
treatment.14,26
Surgical treatment consists of removal of the thymus,
which is believed to be the primary site of antibody produc-
tion.19 Approximately 60% of children with myasthenia
gravis have a good response following thymectomy.17,19
Muscle strength may improve within 1 week of surgery.13
Patients whose myasthenia gravis is not associated with
antibody production do not benefit from thymectomy.8
Patients currently considered appropriate candidates for
thymectomy are those whose response to anticholinesterase
medications and immunosuppressants is unsatisfactory and
those who prefer surgery to long-term immunosuppressant
therapy.18 In patients with a peripubertal onset of juvenile
myasthenia gravis, better postoperative results are obtained
if thymectomy is performed within 12 months of disease
onset.1,3
References
Myasthenia Gravis
1. Adams C, Theodorescu D, Murphy EG, et al: Thymectomy in
juvenile myasthenia gravis, J Child Neurol 5:215, 1990.
2. Andrews PI: Autoimmune myasthenia gravis in childhood, Semin
Neurol 24:101, 2004.
3. Andrews PI, Massey JM, Howard JF Jr, et al: Race, sex, and
puberty influence onset, severity, and outcome in juvenile myas-
thenia gravis, Neurology 44:1208, 1994.
4. Bassan H, Muhlbaur B, Tomer A, et al: High-dose intravenous
immunoglobulin in transient neonatal myasthenia gravis, Pediatr
Neurol 18:181, 1998.
5. Beeson D, Palace J, Vincent A: Congenital myasthenic syndromes,
Curr Opin Neurol 10:402, 1997.
6. Chiang LM, Darras BT, Kang PB: Juvenile myasthenia gravis,
Muscle Nerve 39:423, 2009.
7. Chin D, Gubbay SS: Familial myasthenia gravis: a study of three
families, Clin Exp Neurol 21:141, 1985.
8. Dooley JM, Writer H, Gibson EJ, et al: Congenital myasthenia
gravis. The clinical spectrum. A practical approach to diagnosis and
treatment, Clin Pediatr (Phila) 27:575, 1988.
9. Engel AG: Myasthenia gravis and myasthenic syndromes, Ann
Neurol 16:519, 1984.
10. Engel AG: Congenital myasthenic syndromes, Neurol Clin 12:401,
1994.
11. Engel AG, Uchitel OD, Walls TJ, et al: Newly recognized congeni-
tal myasthenic syndrome associated with high conductance and
fast closure of the acetylcholine receptor channel, Ann Neurol
34:38, 1993.
12. Evoli A: Acquired myasthenia gravis in childhood, Curr Opin
Neurol 23:536, 2010.
13. Fenichel GM: Myasthenia gravis, Pediatr Ann 18:432, 1989.
14. Ferrero B, Durelli L: High-dose intravenous immunoglobulin G
treatment of myasthenia gravis, Neurol Sci 23(Suppl 1):S9, 2002.
15. Hageman G, Smit LM, Hoogland RA, et al: Muscle weakness
and congenital contractures in a case of congenital myasthenia,
J Pediatr Orthop 6:227, 1986.
16. Hayashi M, Kida K, Yamada I, et al: Involvement of HLA in clinical
courses of myasthenia gravis, J Neuroimmunol 18:171, 1988.
17. Hennessey IA, Long AM, Hughes I, et al: Thymectomy for induc-
ing remission in juvenile myasthenia gravis, Pediatr Surg Int
27:591, 2011.
18. Herrmann DN, Carney PR, Wald JJ: Juvenile myasthenia gravis:
treatment with immune globulin and thymectomy, Pediatr Neurol
18:63, 1998.
19. Lindner A, Schalke B, Toyka KV: Outcome in juvenile-onset myas-
thenia gravis: a retrospective study with long-term follow-up of 79
patients, J Neurol 244:515, 1997.
20. Matthes JW, Kenna AP, Fawcett PR: Familial infantile myasthenia:
a diagnostic problem, Dev Med Child Neurol 33:924, 1991.
21. Millichap JG, Dodge PR: Diagnosis and treatment of myasthenia
gravis in infancy, childhood, and adolescence: a study of 51
patients, Neurology 10:1007, 1960.
22. Parr JR, Jayawant S: Childhood myasthenia: clinical subtypes and
practical management, Dev Med Child Neurol 49:629, 2007.
23. Pascuzzi RM, Sermas A, Phillips LH 2nd, et al: Familial autoim-
mune myasthenia gravis and thymoma: occurrence in two brothers,
Neurology 36:423, 1986.
24. Roach ES, Buono G, McLean WT Jr, et al: Early-onset myasthenia
gravis, J Pediatr 108:193, 1986.
25. Schara U, Lochmuller H: Therapeutic strategies in congenital
myasthenic syndromes, Neurotherapeutics 5:542, 2008.
26. Selcen D, Dabrowski ER, Michon AM, et al: High-dose intrave-
nous immunoglobulin therapy in juvenile myasthenia gravis,
Pediatr Neurol 22:40, 2000.
27. Shillito P, Vincent A, Newsom-Davis J: Congenital myasthenic
syndromes, Neuromuscul Disord 3:183, 1993.
28. Vajsar J, Sloane A, MacGregor DL, et al: Arthrogryposis multiplex
congenita due to congenital myasthenic syndrome, Pediatr Neurol
12:237, 1995.
29. Vial C, Charles N, Chauplannaz G, et al: Myasthenia gravis in
childhood and infancy. Usefulness of electrophysiologic studies,
Arch Neurol 48:847, 1991.
30. Vincent A, Newland C, Croxen R, et al: Genes at the junction—
candidates for congenital myasthenic syndromes, Trends Neurosci
20:15, 1997.
31. Zammarchi E, Donati MA, Masi S, et al: Familial infantile myas-
thenia: a neuromuscular cause of respiratory failure, Childs Nerv
Syst 10:347, 1994.
 CHAPTER 39  Muscle Diseases e361

Plate 39-1  Anterior Transfer of the Posterior Tibial Tendon Through the Interosseous Membrane

Operative Technique
A, A 4-cm-long incision is made over the medial aspect
of the foot, beginning posterior and immediately distal to
the tip of the medial malleolus and extending to the base Incision
of the first cuneiform bone. A second longitudinal incision
is made 1.5 cm posterior to the subcutaneous medial border
of the tibia and ends 3 cm from the tip of the medial
malleolus.
B, The posterior tibial tendon is identified at its insertion,
and its sheath is divided. The tendon is freed and sectioned
at its attachment to the bone, with maximal length Incision
preserved. A 0-0 silk whip suture is inserted in its distal
end.
C, The posterior tibial muscle is identified through the leg
incision, and its sheath is opened and freed. Traction on the
stump in the foot incision can help in its identification.
Moist sponges and a two-hand technique are used to deliver
the posterior tibial tendon into the proximal wound. The
surgeon must be careful to preserve the nerve and blood A
supply to the posterior tibial muscle.

Delivery of posterior tibial

tendon into proximal wound
Posterior tibial tendon
(preserve maximum length)

Incision

Stump of tendon

B C

Continued on following page

e362 SECTION VI  Neuromuscular Disorders

Plate 39-1  Anterior Transfer of the Posterior Tibial Tendon Through the Interosseous Membrane, cont’d

Window cut into

interosseous membrane

Tibialis
Incision anterior muscle

Incision

CAUTION: Avoid injury to anterior tibial

D vessels and deep peroneal nerve

D, A longitudinal skin incision is made anteriorly one fin-
gerbreadth lateral to the crest of the tibia, starting at the
proximal margin of the cruciate ligament of the ankle and
extending 7 cm proximally. A 4-cm-long longitudinal inci-
sion is then made over the dorsum of the foot, centered
over the base of the second metatarsal.
E, The anterior tibial muscle is exposed together with the
anterior tibial artery and extensor hallucis longus muscle. It
is retracted laterally to expose the interosseous membrane.
Next, a large rectangular window is cut in the interosseous
membrane.
 CHAPTER 39  Muscle Diseases e363

Tibialis posterior muscle passed through

window in interosseous membrane

V IV III II I

Tibialis posterior tendon

anchored into base
of second metatarsal

Ober tendon passer delivers tibialis posterior tendon

beneath extensors and cruciate ligament
into wound over base
of second metatarsal

F G

F and G, With an Ober tendon passer, the posterior tibial
tendon is passed posteriorly through the window in the
interosseous membrane into the anterior tibial compart-
ment. Care is needed to not twist the tendon or damage its
nerve or blood supply. Next, with the aid of an Ober tendon
passer, the posterior tibial tendon is passed beneath the
cruciate ligament and the extensors and is delivered into
the wound on the dorsum of the foot. It is anchored to the
base of the second metatarsal bone through a bone tunnel.
The wounds are closed in layers in the usual manner. A
short-leg cast that will hold the foot in neutral position at
the ankle joint is applied.
Postoperative Care
The principles of postoperative care are the same as for
any tendon transfer.
e364 SECTION VI  Neuromuscular Disorders

Plate 39-2  Scapulocostal Stabilization for Scapular Winging (Ketenjian Technique)

Scapula fixed
Scapula: note with medial
inferior angle border parallel
tilted medially to vertebral
spines

Medial border of
scapula tilted 40°
laterally 40° Range of
Active active
abduction shoulder
of shoulder abduction
is 80° increased
A B C to 140°

In winging of the scapula in patients with facioscapulo-
humeral muscular dystrophy, the scapula is malrotated, with
its longitudinal axis deviated medially and its inferomedial
angle displaced toward the spinous process of the vertebrae.
Preoperative Assessment
Before surgery, the surgeon must determine the position in
which the scapula will be fixed to the thoracic wall. This is
done with the patient standing and the surgeon behind the
patient.
A, The surgeon steadies the scapula with one hand by
holding its superomedial border with the thumb and fingers.
With the thumb of the opposite hand, the surgeon hooks
the inferior angle of the scapula while the palm and fingers
grasp the thoracic cage laterally. The patient’s arm hangs
loosely at the side.
B, The inferior angle of the scapula is displaced laterally
until the medial border of the scapula is parallel to the
longitudinal axis of the spinous processes of the vertebrae.
With the scapula fixed on the thoracic cage, the patient
actively abducts the shoulder, and the degree of glenohu-
meral active abduction is measured. In this illustration,
active shoulder abduction is 80 degrees.
C, The inferior angle of the scapula is displaced laterally,
thus rotating the scapula laterally in the coronal (scapular)
plane. In this illustration the medial border of the scapula
is tilted laterally 40 degrees in relation to the vertebral
spines. The patient is asked to actively abduct the shoulder,
and the total range of thoracoglenohumeral abduction is
measured and correlated with the scapuloaxial angle (the
angle formed by the medial border of the scapula and a
longitudinal line connecting the spinous processes of the
vertebrae).
 CHAPTER 39  Muscle Diseases e365

abduction
of shoulder
is 80° Supraspinatus muscle

Trapezius
muscle

Incision

Infraspinatus
muscle
Rhomboid
40° major
muscle
Drill holes made 1.3 cm
D E from medial border of scapula

Operative Technique
At surgery the scapula is fixed to the tho- Ribs
racic cage at the scapuloaxial angle mea-
sured during the maximum desired
position of shoulder abduction. The oper-
ation is performed with the patient prone.
The neck, entire thorax, and involved
upper limb are prepared and carefully
draped to allow free manipulation of the
shoulder.
D, With the scapula in position to be fixed
to the thoracic cage, a longitudinal incision
is made at its medial border. The subcu-
taneous tissue and superficial fascia are
divided in line with the skin incision.
E, The trapezius, levator scapulae, and
rhomboids are sectioned from the medial
border of the scapula; these muscles are G
atrophic and have been replaced by fibrous
or fibrofatty tissue. The supraspinatus,
infraspinatus, and subscapularis are ele-
vated with a periosteal elevator for a dis-
tance of 2.5 cm from the medial border
of the scapula.
F, Four drill holes are made 1.3 cm from
the medial border of the scapula at the
level of the adjacent ribs when the scapula
is placed in the desired position for stabili-
zation. The scapula is tilted to approxi-
mately 20 degrees of lateral rotation.
G, The ribs underlying the drill holes in
the scapula are exposed subperiosteally.
The surgeon must be extremely careful to
not injure the intercostal vessels and
4
5
5
6
6
7
7
Mersilene strips Strips pulled through drill holes
passed around ribs and tied down snugly with scapula
positioned in 40° external rotation
H
nerves at the inferior margin of the ribs. Mersilene or fasciae latae strips are
then passed around the ribs.
H, The strips are passed through drill holes and tied snugly with the scapula
maintained in 20 degrees of lateral rotation. The stability of the scapula’s
fixation to the rib cage is tested, and the wound is closed in the usual fashion.
Postoperative Care
The upper limb is supported in a sling. Several days postoperatively, active
assisted and gentle passive range-of-motion exercises are performed several
times a day. Codman pendulum exercises are begun 7 days after surgery. The
sling support is discontinued 4 to 5 weeks after the operation.
 C H A P T E R 4 0 

Skeletal Dysplasias John A. Herring

in the most common forms of bone dysplasia. Although

Chapter Outline
Overview
Nomenclature and Classification
Achondroplasia
Hypochondroplasia
Thanatophoric Dwarfism
Pseudoachondroplasia
Spondyloepiphyseal Dysplasia
Multiple Epiphyseal Dysplasia
Diastrophic Dysplasia (Diastrophic Dwarfism)
Kniest Dysplasia (Pseudometatrophic Dysplasia)
Chondrodysplasia Punctata
Metaphyseal Chondrodysplasia
Osteopetrosis
Progressive Diaphyseal Dysplasia
(Camurati-Engelmann Disease)
Osteopoikilosis
Osteopathia Striata
Melorheostosis
Infantile Cortical Hyperostosis (Caffey Disease)
Pyknodysostosis
Cleidocranial Dysostosis
Idiopathic Osteolysis
Mucopolysaccharidoses
Niemann-Pick Disease
Overview
This chapter describes the major skeletal dysplasias seen in
the pediatric population. In each of these conditions a struc-
tural abnormality in the bone itself leads to disturbances in
growth of the trunk or extremities. More than 200 bone
dysplasias have been described, most of which are extremely
rare.1 Most of the bone dysplasias result in short stature,
which is defined as a height that is less than the 3rd per-
centile for the chronologic age of the patient. Short stature
can be further described as proportionate or disproportion-
ate, with disproportionate short stature divided into short-
limbed and short-trunk forms.
Some of the dysplasias are genetically transmitted,
whereas others are not. In those dysplasias with genetic
transmission, research has focused on molecular genetics.
Not only are scientists discovering on which chromosomes
the dysplasia is transmitted, but also they are uncovering
the precise mutations. In addition, the proteins that are
encoded from the genes and the roles these proteins play
in skeletal development are becoming known. Table 40-1
lists the known genetic mutations that have been identified
specific gene therapy is not yet possible, much new informa-
tion is becoming rapidly available and is advancing our
understanding of the mechanism of bone dysplasias.
The diagnosis of skeletal dysplasias can most often be
made from the history and the physical examination of the
child. Short stature is readily identified and is often the
chief complaint of the family. At the initial examination,
the pattern of shortening should be established. Rhizomelic
is a term implying shortening that is most prominent in the
proximal segments of the limbs (i.e., in the femur or
humerus). When the midportion of the limb is shortest, the
term mesomelic should be used. Acromelic describes short-
ening of the distal limb. Sitting heights and standing heights
should be compared with normal growth charts to establish
whether the short stature is proportionate or disproportion-
ate (see Chapter 1).
The physical examination should include careful charac-
terization of the patient’s facies. Frontal bossing is seen in
achondroplasia, whereas trefoil (triangular) facies is seen in
osteogenesis imperfecta. In many dysplasias the patient’s
teeth are abnormal, a visible reflection of collagen abnor-
malities common to both the dentition and the bone.
Inspection of the patient’s ears and skin can narrow the
potential diagnoses as well. Comparison with atlases of skel-
etal malformations is useful.2 It has been said that children
with skeletal dysplasias and syndromes resemble depictions
of affected children in atlases more than they resemble their
own siblings.
After the history and physical examination, radiographs
are used to identify the area of the bone in which abnormali-
ties are seen. Epiphyseal changes are evident in multiple
epiphyseal dysplasia (MED) and glycogen storage diseases.
Metaphyseal abnormalities are most noticeable in rickets
and metaphyseal chondrodysplasias. Spinal radiographs
should always be obtained in the evaluation of a child with
a suspected skeletal dysplasia. Dysplastic changes are seen
in the spine in several of these conditions, and the presence
or absence of spinal involvement can assist the orthopaedic
surgeon in establishing the diagnosis. Cervical spine films
are also helpful in the diagnosis, and they may reveal trou-
blesome instability that may require attention once identi-
fied. Hand radiographs are helpful in screening for skeletal
dysplasias because certain dysplasias demonstrate charac-
teristic changes in the metacarpals and phalanges. When the
dysplasia is not evident on films, a pediatric orthopaedic
radiologist should be consulted to review the radiographs.
Some of the skeletal dysplasias are associated with sig-
nificant medical findings. One example is the presence of
precocious puberty in young girls with Albright syndrome.
Other dysplasias place patients at increased risk for future
medical problems. For example, patients with nail-patella
syndrome are diagnosed with the condition as children, but
they are predisposed to developing renal failure as adults.
In these cases the pediatric orthopaedist should counsel

e367
e368 SECTION VII  Other Orthopaedic Disorders

Table 40-1  Genetic Mutations Identified in the Most Common Forms of Bone Dysplasia
Condition (Clinical Inheritance Chromosome Proposed Effect
Phenotype) Pattern Location Locus Gene Product Function of Mutation

Achondroplasia AD 4p16.3 FGFR3 Tyrosine kinase Gain-of-function mutations;

transmembrane slow rate of endochondral
receptor for FGFs bone growth
Thanatophoric AD 4p16.3 FGFR3 Tyrosine kinase Gain-of-function mutations;
dysplasia I and II transmembrane slow rate of endochondral
receptor for FGFs bone growth
Hypochondroplasia AD 4p16.3 FGFR3 Tyrosine kinase Gain-of-function mutations;
transmembrane slow rate of endochondral
receptor for FGFs bone growth
OI type I AD 17q21.31 COL1A1 Type I collagen Functional null alleles
7q22.1 COL1A2 (decreased amounts of
type I collagen)
OI type II AR 17q21.31 COL1A1 Type I collagen Functional null alleles
7q22.1 COL1A2 (decreased amounts of
type I collagen)
OI type III AR 17q21.31 COL1A1 Type I collagen Functional null alleles
7q22.1 COL1A2 (decreased amounts of
type I collagen)
OI type IV AD 17q21.31 COL1A1 Type I collagen Functional null alleles
7q22.1 COL1A2 (decreased amounts of
type I collagen)
Achondroplasia type AD 12q31.1-q13.3 COL2A1 Extracellular matrix protein Dominant negative
II (type II collagen)
Hypochondrogenesis AD 12q31.1-q13.3 COL2A1 Extracellular matrix protein Dominant negative
(type II collagen)
Spondyloepiphyseal AD 12q31.1-q13.3 COL2A1 Extracellular matrix protein Dominant negative
dysplasia (type II collagen)
Kniest dysplasia AD 12q31.1-q13.3 COL2A1 Extracellular matrix protein Dominant negative
(type II collagen)
Stickler dysplasia AD 12q31.1-q13.3 COL2A1 Extracellular matrix protein Haploinsufficiency
(type II collagen)
MED type II AD 1p33-p32.3 COL9A2 Type IX collagen: Dominant negative
(EDM2) regulation of collagen
assembly in cartilage
Metaphyseal AD 6q21-q22.3 COL10A1 Type X collagen: deficiency Haploinsufficiency
chondrodysplasia, in hypertrophic zone of
Schmid type epiphyses
Stickler-like dysplasia AD 6p21.3 COL11A2 Type XI collagen: lacks Dominant negative
alpha-1 chain
(contributes to cohesive
strength of cartilage)
MED type I (Fairbank AD 19p12-13.1 COMP Extracellular matrix protein Dominant negative
type) (EDM1) of cartilage
Pseudoachondroplasia AD 19p12-13.1 COMP Extracellular matrix protein Dominant negative
of cartilage
Metaphyseal AD 3p21-p22 PTHrPR G protein transmembrane Gain-of-function mutation
chondrodysplasia, receptor for PTH and
Jansen type PTH-related protein
Diastrophic dysplasia AR 5q31-q34 DTDST Diastrophic dysplasia Loss-of-function mutation
sulfate transporter:
decreased sulfation of
glycosaminoglycans*
 CHAPTER 40  Skeletal Dysplasias e369

Table 40-1  Genetic Mutations Identified in the Most Common Forms of Bone Dysplasia, cont’d
Condition (Clinical Inheritance Chromosome Proposed Effect
Phenotype) Pattern Location Locus Gene Product Function of Mutation
Achondrogenesis type AR 5q31-q34 DTDST Diastrophic dysplasia Loss-of-function mutation
IB sulfate transporter:
decreased sulfation of
glycosaminoglycans*
Chondrodysplasia XLR Xpter-p22.32 ARSE Arylsulfatase enzyme Loss-of-function mutation
punctata (CPXR) (defect in sulfate
metabolism in cartilage)
Camptomelic AD 17q24-25.1 SOX9 Transcription factor in Haploinsufficiency
dysplasia (CMD1) growth plate
chondrocytes†
Pyknodysostosis AR 1q21 CTSK Cathepsin K (a lysosomal Decreased amount in
protease in bone osteoclasts
resorption)

Adapted from Baitner AC, Maurer SG, Gruen MB, et al: The genetic basis of the osteochondrodysplasias, J Pediatr Orthop 20:594, 2000.
AD, Autosomal dominant; AR, autosomal recessive; FGF, fibroblast growth factor; MED, multiple epiphyseal dysplasia; OI, osteogenesis imperfecta;
PTH, parathyroid hormone; XLR, X-linked recessive.
*Chondroitin, keratan sulfate, and heparan sulfate.
†
Related to sex-determining region Y (SRY).

patients and their families accordingly and direct them to References

appropriate medical care.
Referral to a pediatric geneticist is often required when
evaluating patients with bone dysplasias. These medical spe-
cialists may be helpful in reaching a diagnosis in vexing
cases. Genetic counseling is often of concern for the family,
both to estimate the risk in future pregnancies and to obtain
information about genetic transmission of the dysplasia
when their child reaches reproductive age. Detailed chro-
mosomal studies are now available for some of the skeletal
dysplasias.3
References
Overview
1. Hertel NT, Muller J: Anthropometry in skeletal dysplasia, J Pediatr
Endocrinol 7:155, 1994.
2. Jones K: Smith’s recognizable patterns of human malformation,
Philadelphia, 1988, Saunders.
3. Reardon W: Skeletal dysplasias detectable by DNA analysis, Prenat
Diagn 16:1221, 1996.
Nomenclature and Classification
Nomenclature and Classification
1. Bergsma D: Limb malformations, Birth Defects Orig Artic Ser 10:3,
1974.
2. Bergsma D: Malformation syndromes, Birth Defects Orig Artic Ser
10:7 No. 7, 1974.
3. Bergsma D: Skeletal dysplasias, Birth Defects Orig Artic Ser 10:9,
1974.
4. Bergsma D: Disorders of connective tissue, Birth Defects Orig Artic
Ser 11, 1975.
5. Bergsma D: Morphogenesis and malformation of the limb, Birth
Defects Orig Artic Ser 13:1, 1977.
6. Bergsma D: The genetics of hand malformations, Birth Defects Orig
Artic Ser 14:3, 1978.
7. Fairbank HAT: An atlas of general affections of the skeleton, Edin-
burgh, 1951, Livingstone.
8. Rubin P: Dynamic classification of bone dysplasias, Chicago, 1964,
Year Book.
Achondroplasia
Achondroplasia is the most common form of dwarfism.
Reports of its incidence range between 1.3 per 100,000 live
births2 and 1.5 per 10,000 live births.63

Sir Thomas Fairbank, in his Atlas of General Affections of

the Skeleton, was among the first to try to classify the skel-
etal dysplasias.7 In Dynamic Classification of Bone Dyspla-
sias, Rubin further refined the classification schemes by
grouping the dysplasias according to the anatomic distribu-
tion of bone changes8 (Fig. 40-1 and Box 40-1). The March
of Dimes followed with a series of meetings on birth defects
that led to publications describing the skeletal dysplasias.1-6
The European Society of Pediatric Radiologists then arrived
at an international nomenclature of constitutional disorders
of the bone, which resulted in the classification provided in
Box 40-2.
Genetics
Achondroplasia is inherited as an autosomal dominant trait
with complete penetrance. Ninety percent of cases are the
result of spontaneous mutation.82 Point mutations in the
fibroblast growth factor receptor (FGFR) gene have been
linked with paternal age greater than 36 years.64 It has
therefore been shown that the achondroplasia mutation
occurs more often on the paternal than the maternal chro-
mosome.100 There are extremely rare reports of familial
recurrence of achondroplasia in subsequent siblings of
affected patients born to unaffected parents as a result of
e370 SECTION VII  Other Orthopaedic Disorders

Hyperplasias Hypoplasias
Spondyloepiphyseal
dysplasia

Multiple epiphyseal
dysplasia

Hyperchondroplasia
Achondroplasia
Enchondromatosis
Metaphyseal
dysostosis
Hypophosphatasia

Familial exostosis
Osteopetrosis
Craniometaphyseal
dysplasia

Osteogenesis
Progressive imperfecta
diaphyseal dysplasia

Osteoporosis
Hyperphosphatasemia

FIGURE 40-1  Dynamic classification of bone dysplasias. (Redrawn from Rubin P: Dynamic classification of bone dysplasias, Chicago, 1964,
Year Book.)

Box 40-1  Dynamic Classification of Bone Dysplasias

I. Epiphyseal dysplasias 2. Failure to absorb primary spongiosa: osteopetrosis
A. Epiphyseal hypoplasias congenita and tarda
1. Failure of articular cartilage: spondyloepiphyseal 3. Failure to absorb secondary spongiosa:
dysplasia congenita and tarda craniometaphyseal dysplasia congenita and tarda
2. Failure of ossification center: multiple epiphyseal B. Metaphyseal hyperplasias
dysplasia congenita and tarda 1. Excessive spongiosa: multiple exostoses
B. Epiphyseal hyperplasia IV. Diaphyseal dysplasias
1. Excess of articular cartilage; dysplasia epiphysealis A. Diaphyseal hypoplasias
hemimelica 1. Failure of periosteal bone formation: osteogenesis
II. Physeal dysplasias imperfecta congenita and tarda
A. Cartilage hypoplasias 2. Failure of endosteal bone formation: idiopathic
1. Failure of proliferating cartilage: achondroplasia osteoporosis congenita and tarda
congenita and tarda B. Diaphyseal hyperplasias
2. Failure of hypertrophic cartilage: metaphyseal 1. Excessive periosteal bone formation: progressive
dysostosis congenita and tarda diaphyseal dysplasia
B. Cartilage hyperplasias 2. Excessive endosteal bone formation:
1. Excess of proliferating cartilage: hyperchondroplasia hyperphosphatasemia
2. Excess of hypertrophic cartilage: enchondromatosis
III. Metaphyseal dysplasias
A. Metaphyseal hypoplasias
1. Failure to form primary spongiosa: hypophosphatasia
congenita and tarda

From Rubin P: Dynamic classification of bone dysplasias, Chicago, 1964, Year Book Medical Publishers, p 82.
 CHAPTER 40  Skeletal Dysplasias e371

Box 40-2  International Nomenclature of Constitutional Disease of Bone

OSTEOCHONDRODYSPLASIAS (ABNORMALITIES OF 16. Parastremmatic dysplasia
CARTILAGE AND/OR BONE GROWTH AND DEVELOPMENT) 17. Trichorhinophalangeal dysplasia
DEFECTS OF GROWTH OF TUBULAR BONES AND/OR SPINE 18. Acrodysplasia with retinitis pigmentosa and nephropathy,
A. Identifiable at birth Saldino-Mainzer
1. Achondrogenesis type I, Parenti-Fraccaro
DISORGANIZED DEVELOPMENT OF CARTILAGE AND FIBROUS
2. Achondrogenesis type II, Langer-Saldino
COMPONENTS OF SKELETON
3. Thanatophoric dysplasia
1. Dysplasia epiphysealis hemimelica
4. Thanatophoric dysplasia with cloverleaf skull
2. Multiple cartilaginous exostoses
5. Short rib–polydactyly syndrome type I, Saldino-Noonan
3. Acrodysplasia with exostoses, Giedion-Langer
(perhaps several forms)
4. Enchondromatosis, Ollier
6. Short rib–polydactyly syndrome type II, Majewski
5. Enchondromatosis with hemangioma, Maffucci
7. Chondrodysplasia punctata
6. Metachondromatosis
a. Rhizomelic form
7. Fibrous dysplasia, Jaffe-Lichtenstein
b. Dominant form
8. Fibrous dysplasia with skin pigmentation and precocious
c. Other forms, excluding symptomatic stippling in
puberty, McCune-Albright
other disorders (e.g., Zellweger syndrome, warfarin
9. Cherubism (familial fibrous dysplasia of the jaws)
embryopathy)
10. Neurofibromatosis
8. Camptomelic dysplasia
9. Other dysplasias with congenital bowing of long bones ABNORMALITIES OF DENSITY OF CORTICAL DIAPHYSEAL
(several forms) STRUCTURE AND/OR METAPHYSEAL MODELING
10. Achondroplasia 1. Osteogenesis imperfecta congenita (several forms)
11. Diastrophic dysplasia 2. Osteogenesis imperfecta tarda (several forms)
12. Metatropic dysplasia (several forms) 3. Juvenile idiopathic osteoporosis
13. Chondroectodermal dysplasia, Ellis–van Creveld 4. Osteoporosis with pseudoglioma
14. Asphyxiating thoracic dysplasia, Jeune 5. Osteopetrosis with precocious manifestations
15. Spondyloepiphyseal dysplasia congenita 6. Osteopetrosis with delayed manifestations (several forms)
a. Type Spranger-Wiedemann 7. Pyknodysostosis
b. Other forms (see B, 11 and 12) 8. Osteopoikilosis
16. Kniest dysplasia 9. Osteopathia striata
17. Mesomelic dysplasia 10. Melorheostosis
a. Type Nievergelt 11. Diaphyseal dysplasia, Camurati-Engelmann
b. Type Langer (probable homozygous 12. Craniodiaphysial dysplasia
dyschondrosteosis) 13. Endosteal hyperostosis
c. Type Robinow a. Autosomal dominant, Worth
d. Type Reinhardt b. Autosomal recessive, Van Buchem
e. Other forms 14. Tubular stenosis, Kenny-Caffey
18. Acromesomelic dysplasia 15. Pachydermoperiostosis
19. Cleidocranial dysplasia 16. Osteodysplasty, Melnick-Needles
20. Larsen syndrome 17. Frontometaphyseal dysplasia
21. Otopalatodigital syndrome 18. Craniometaphyseal dysplasia (several forms)
B. Identifiable in later life 19. Metaphyseal dysplasia, Pyle
1. Hypochondroplasia 20. Sclerostenosis
2. Dyschondrosteosis 21. Dysosteosclerosis
3. Metaphyseal chondrodysplasia type Jansen 22. Osteoectasia with hyperphosphatasia
4. Metaphyseal chondrodysplasia type Schmid
DYSOSTOSES (MALFORMATION OF INDIVIDUAL BONES
5. Metaphyseal chondrodysplasia type McKusick
SINGLY OR IN COMBINATION)
6. Metaphyseal chondrodysplasia with exocrine pancreatic
DYSOSTOSES WITH CRANIAL AND FACIAL INVOLVEMENT
insufficiency and cyclic neutropenia
1. Craniosynostosis (several forms)
7. Spondylometaphyseal dysplasia
2. Craniofacial dysostosis, Crouzon
a. Type Kozlowski
3. Acrocephalosyndactyly, Apert (and others)
b. Other forms
4. Acrocephalopolysyndactyly, Carpenter (and others)
8. Multiple epiphyseal dysplasia
5. Mandibulofacial dysostosis
a. Type Fairbank
a. Type Treacher Collins, Franceschetti
b. Other forms
b. Other forms
9. Arthro-ophthalmopathy, Stickler
6. Oculomandibulofacial syndrome, Hallermann-Streiff-Francois
10. Pseudoachondroplasia
7. Nevoid basal cell carcinoma syndrome
a. Dominant
b. Recessive DYSOSTOSES WITH PREDOMINANT AXIAL INVOLVEMENT
11. Spondyloepiphyseal dysplasia tarda 1. Vertebral segmentation defects, including Klippel-Feil
12. Spondyloepiphyseal dysplasia, other forms (see A, 15 and 2. Cervico-oculoacoustic syndrome, Wildervanck
16) 3. Sprengel anomaly
13. Dyggve-Melchior-Clausen dysplasia 4. Spondylocostal dysostosis
14. Spondyloepimetaphyseal dysplasia (several forms) a. Dominant form
15. Myotonic chondrodysplasia, Catel-Schwartz-Jampel b. Recessive forms

Continued
e372 SECTION VII  Other Orthopaedic Disorders

Box 40-2  International Nomenclature of Constitutional Disease of Bone, cont’d

5. Oculovertebral syndrome, Weyers 3. Late rickets, McCance
6. Osteo-onychodysostosis 4. Idiopathic hypercalciuria
7. Cerebrocostomandibular syndrome 5. Hypophosphatasia (several forms)
6. Pseudohypoparathyroidism (normocalcemic and
DYSOSTOSES WITH PREDOMINANT INVOLVEMENT OF
hypocalcemic forms, including acrodysostosis)
EXTREMITIES
1. Acheiria COMPLEX CARBOHYDRATES
2. Apodia 1. Mucopolysaccharidosis type I (α-L-iduronidase deficiency)
3. Ectrodactyly syndrome a. Hurler form
4. Aglossia-adactyly syndrome b. Scheie form
5. Congenital bowing of long bones (several forms; see also c. Other forms
osteochondrodysplasias) 2. Mucopolysaccharidosis type II, Hunter (sulfoiduronate
6. Familial radioulnar synostosis sulfatase deficiency)
7. Brachydactyly (several forms) 3. Mucopolysaccharidosis type III, Sanfilippo
8. Symphalangism a. Type A (heparan sulfamidase deficiency)
9. Polydactyly (several forms) b. Type B (N-acetyl-α-glucosaminidase deficiency)
10. Syndactyly (several forms) 4. Mucopolysaccharidosis type IV, Morquio
11. Polysyndactyly (several forms) (N-acetylgalactosamine-6-sulfate sulfatase deficiency)
12. Camptodactyly 5. Mucopolysaccharidosis type VI, Maroteaux-Lamy
13. Poland syndrome (arylsulfatase B deficiency)
14. Rubinstein-Taybi syndrome 6. Mucopolysaccharidosis type VII (β-glucuronidase deficiency)
15. Pancytopenia-dysmelia syndrome, Fanconi 7. Aspartylglucosaminuria (aspartylglucosaminidase deficiency)
16. Thrombocytopenia–radial aplasia syndrome 8. Mannosidosis (α-mannosidase deficiency)
17. Orodigitofacial syndrome 9. Fucosidosis (α-fucosidase deficiency)
a. Type Papillon-Leage 10. GM1 gangliosidosis (β-galactosidase deficiency)
b. Type Mohr 11. Multiple sulfatase deficiency, Austin, Thieffry
18. Cardiomelic syndrome, Holt-Oram (and others) 12. Neuraminidase deficiency (formerly mucolipidosis I)
19. Femoral facial syndrome 13. Mucolipidosis II
20. Multiple synostoses (includes some forms of symphalangism) 14. Mucolipidosis III
21. Scapuloiliac dysostosis, Kosenow-Sinios
LIPIDS
22. Hand-foot-genital syndrome
1. Niemann-Pick disease
23. Focal dermal hypoplasia, Goltz
2. Gaucher disease
IDIOPATHIC OSTEOLYSES
NUCLEIC ACIDS
1. Phalangeal (several forms)
1. Adenosine deaminase deficiency and others
2. Tarsocarpal
a. Including Francois form (and others) AMINO ACIDS
b. With nephropathy 1. Homocystinuria and others
3. Multicentric
METALS
a. Hajdu-Cheney form
1. Menkes kinky hair syndrome and others
b. Winchester form
c. Other forms
CHROMOSOMAL ABERRATIONS (SPECIFIC ENTITIES
NOT LISTED)
PRIMARY METABOLIC ABNORMALITIES
CALCIUM AND/OR PHOSPHORUS
1. Hypophosphatemic rickets
2. Pseudodeficiency rickets, Prader, Royer

From Horan F, Beighton P: Orthopaedic problems in inherited skeletal disorders, New York, 1982, Springer.

mosaicism.22,29 The risk that two parents without achon-
droplasia will produce children with achondroplasia is
0.02%.54 The usual patient with achondroplasia is hetero-
zygous in genotype. Homozygous achondroplasia occurs in
the children of two achondroplastic parents. In homozy-
gous cases, achondroplasia is usually fatal in the neonatal
period.69
The gene for achondroplasia encodes for FGFR-3 and is
located on chromosome 4p.26 The abnormality in the gene
is a glycine-to-arginine substitution, and the mutation allows
overactivity of the receptor’s function.22 No variability in
the mutation occurs among patients with achondroplasia.
Because the mutation is the same for all patients,
the phenotype of the disease is similar among unrelated
individuals with achondroplasia.13 The amino acid sub­
stitution in the FGFR3 gene is the most mutable single
nucleotide in the human genome.10 FGFR-3 acts on growth
plate chondrocytes to regulate linear growth.39 FGFR is
expressed in all prebone cartilage, and its function is to slow
down or inhibit enchondral ossification. It inhibits chondro-
cyte proliferation and differentiation and down-regulates
bone morphogenetic protein-4 expression in growth plate
chondrocytes.58 Research has found that FGFR-3 overex-
pression inhibits parathyroid hormone (PTH)–related
peptide (PTHrP), with resulting abnormal apoptosis of
chondrocytes.102

Pathophysiology
The abnormality seen in the bone of patients with achon-
droplasia is failure of enchondral ossification. Intramembra-
nous and periosteal ossification is undisturbed. Histologic
studies have shown disarray of the chondrocytes, with loss
of columnization and of normal chondrocyte prolifera-
tion.53,72 Fibrous tissue is present in the zone of provisional
calcification, and what trabeculae are present are irregular.74
Because enchondral growth is disturbed, the bones remain
short. Intramembranous ossification is normal, leading to
normal clavicles and skull. Because the width of the long
bones is a product of intramembranous periosteal ossifica-
tion, the bones are of normal diameter.
Clinical Features
The most striking clinical feature in children with achon-
droplasia is their short stature. This is apparent at birth and
has been documented on fetal ultrasonography through
measurement of femoral length.49 Trunk height tends to be
normal, but arm span and standing height are diminished.
Shortening is most severe in the proximal limbs; thus these
patients have rhizomelic micromelia. In normal individuals
the fingertips reach to the level of the midthighs, but in
patients with achondroplasia the fingertips reach only to the
greater trochanters (Fig. 40-2). Normally, the midpoint of
stature is at the umbilicus, but in patients with achondro-
plasia the midpoint of height may be as high as the inferior
end of the sternum. Ultimate height usually is about 4 feet
3.5 inches (131 cm) for men and 4 feet 1 inch (124 cm)
for women.
Facial features include frontal bossing, small maxillae,
relatively prominent mandibles, and apparent enlargement
FIGURE 40-2  A 6-year-old child with achondroplasia. Note that
his fingers reach to the level of his hips.
CHAPTER 40  Skeletal Dysplasias e373
of the head (Fig. 40-3). The children are often suspected
of having hydrocephalus because of the greater size of the
head relative to limb size. The skull appears flattened in the
anteroposterior (AP) plane and broad when viewed from
the front. The nasal bridge is depressed and flattened. Den-
tition is normal.
The hands are short and broad. Because the middle finger
is shorter than usual, all the digits are of equal length
(referred to as starfish hand). The separation between the
middle and ring fingers of these patients has been described
as trident hand (Fig. 40-4).
The upper limbs are short, and flexion contractures of
the elbows may be present. The contractures may be the
result of dislocations of the radial head (Fig. 40-5). The
lower limbs also are short and may be bowed in varus. There
is relative shortening of the tibia compared with the fibula.
The ends of the bones are enlarged. The patient may have
a waddling gait.
The muscular development of the limbs is usually accen-
tuated. The skin and soft tissues appear overabundant in
relation to the length of the limbs. The abdomen is protu-
berant, and obesity is a problem in many patients.65
Patients with achondroplasia usually have normal
intelligence.
Radiographic Findings
The characteristic radiographic findings in achondroplasia
are shortness of the tubular long bones, with a relative
increase in bony diameter and density. The metaphyses are
widened and flared, but the epiphyses are uninvolved. The
growth plates are U shaped or V shaped. This feature is best
seen at the distal femur (Fig. 40-6). The two limbs of the
“V” of the metaphysis appear to embrace the epiphysis. The
FIGURE 40-3  Facial appearance of a boy with achondroplasia.
Note the frontal bossing and apparent enlargement of the head,
especially in relation to limb size.
e374 SECTION VII  Other Orthopaedic Disorders
FIGURE 40-4  Trident hand characteristic of achondroplasia. Note
the space separating the middle finger from the ring finger.
FIGURE 40-5  Radial head dislocation in a 16-year-old girl with
achondroplasia.
FIGURE 40-6  Anteroposterior radiograph of an 8-year-old girl with
achondroplasia. The distal femoral physis is V shaped.
long bones, especially the tibia, may be bowed. The meta-
carpal, metatarsal, and phalangeal bones are short and thick.
In achondroplasia, the pelvis characteristically appears
broad and flat, with squared iliac wings16 (Fig. 40-7). The
ilium appears broad because the pelvis is formed almost
entirely by intramembranous ossification, which is undis-
turbed in achondroplasia. The sciatic notches are small. The
acetabula are horizontal and may be notched in very young
patients. Flattening of the acetabula can be visualized by
sonography in achondroplastic infants.21 Ponseti found that
disturbances in enchondral ossification at the triradiate car-
tilage lead to abnormal vertical growth of the iliac contribu-
tion to the acetabulum and therefore to radiographic
flattening.74 Because the width of the pelvic inlet is greater
than its depth, the pelvis takes on the appearance of a
champagne glass.
The proximal femoral metaphyses are widened and the
femoral necks are short as a result of the abnormalities in
longitudinal growth. Ossification of the proximal femoral
epiphysis is delayed to more than 1 year of age.21 The
greater trochanter is formed by periosteal ossification and
is normal in size, thus leading to a decrease in the articu-
lotrochanteric distance. True coxa vara is not present, but
the overgrowth of the greater trochanter leads to the
appearance of varus.9
The spine also has a unique appearance in patients with
achondroplasia. The spinal canal, as measured by the inter-
pedicular distance, normally widens distally in the lumbar
spine from L1 to L5. In patients with achondroplasia,
however, the spinal canal narrows and the interpedicular
distance decreases (Fig. 40-8). Wynne-Davies and associates

FIGURE 40-7  Anteroposterior pelvic radiograph in an 8-month-old
girl with achondroplasia. The iliac wings are characteristically
short and broad, and the inlet of the pelvis has the shape of
a champagne glass (width greater than depth). The acetabula
are flat.
FIGURE 40-8  Anteroposterior radiograph of an achondroplastic
spine. The interpedicular distance progressively decreases distally
in the lumbar spine rather than increasing.
CHAPTER 40  Skeletal Dysplasias e375
FIGURE 40-9  Lateral radiograph of an achondroplastic lumbar
spine showing posterior scalloping of the vertebral bodies and
shortened pedicles.
found interpedicular narrowing from L1 to L5 in 69% of
achondroplastic patients. No patient with achondroplasia
showed widening of the interpedicular distance.101 The pro-
gressive decrease in size of the lumbar spinal canal is caused
by premature synostosis between the vertebral bodies and
their arches. The pedicles are short and broad, a feature
best seen on lateral radiographs. The posterior vertebral
bodies may appear scalloped in the lumbar spine (Fig. 40-9).
The thoracolumbar spine in the toddler with achondro-
plasia may appear kyphotic in alignment, with abnormal
anterior vertebral growth in severe cases.
Skull radiographs show marked shortness of the base
of the skull. The foramen magnum is smaller than normal.36,37
The frontal region of the skull protrudes to accommodate
the enlarging brain.
Diagnosis
Much attention has been paid to the prenatal diagnosis
of achondroplasia. Ultrasonography does reveal decreased
femoral length for gestational age. However, confusion
arises in distinguishing achondroplasia from more severe and
even lethal forms of dwarfism. In one study, precise sono-
graphic diagnosis was correct in only 65% of fetuses with
bone dysplasias.67 If achondroplasia seems likely based on
ultrasonographic findings, studies of the FGFR gene may
confirm the diagnosis.55,78,84
In the newborn with achondroplasia, the diagnosis
usually is easy to make. At birth, achondroplasia must be
distinguished from lethal forms of short-limbed dwarfism,
such as thanatophoric dwarfism and achondrogenesis.87 In
e376 SECTION VII  Other Orthopaedic Disorders

the older child achondroplasia may be confused with the

mucopolysaccharidoses (e.g., Morquio syndrome) and with
hypochondroplasia, which is less severe than achondroplasia
but has similar radiographic findings.

Orthopaedic Considerations
Most of the orthopaedic problems encountered in patients
with achondroplasia are related to the spine.8 Young infants
are predisposed to cervical spinal cord compression because
of hypoplasia of the foramen magnum.36,50,61 Cervical spine
instability is rare in patients with achondroplasia. Posterior
spinal fusion is recommended in individual cases.34
Craniocervical Stenosis
Sudden death has been reported in infants with achondro-
plasia who are younger than 1 year of age, and cervical spinal
cord compression has been suggested as the cause.12,35,71 A
mortality rate in the first year of life as high as 7.5% was
reported as recently as 1987.35 Presenting symptoms in
infants with brainstem and upper cervical spinal cord com-
pression consist of hypotonia and sleep apnea.
Hypotonia
Physical examination reveals hypotonia, but decreased tone
and a developmental delay of 3 to 6 months in achieving
motor milestones are common in most infants with achon-
droplasia.95 The presence of clonus and lower limb hyper-
reflexia should generate concern.70 Infants can present with
progressive quadriparesis.32
Sleep Apnea
Sleep apnea may result from one of two mechanisms.79
Central sleep apnea is caused by compression of the upper
cervical spinal cord,27,96 whereas obstructive sleep apnea is
secondary to upper airway obstruction as a result of midface
hypoplasia. Sleep studies may be able to differentiate the
two forms.38,98,106 Somatosensory evoked potentials (SSEPs)
may also confirm the presence and neurologic significance
of foramen magnum stenosis.18,60,83 SSEPs have been found
to correlate with clinical symptoms and magnetic resonance
imaging (MRI) findings.14 MRI is useful in delineating the
myriad abnormalities of the cranial, cerebral, and cervico-
medullary junction present in children with achondropla-
sia,43,94 but the severity of foraminal stenosis does not always
correlate with the clinical symptoms.80 MRI findings may
include cervical medullary compression, abnormal cerebro-
spinal fluid flow, myelomalacia, and even intramedullary
cyst formation15 (Fig. 40-10).
The treatment of central sleep apnea is neurosurgical
craniocervical decompression,6 consisting of foramen
magnum decompression, suboccipital craniectomy, and C1
laminectomy.45 Alternatively, some children have been
placed on apnea monitors and closely observed without
surgery. Distinguishing between children who need decom-
pression and those who do not remains difficult and contro-
versial.96 Some investigators have recommended that all
patients be evaluated for craniocervical stenosis and that
MRI be obtained if the patient has hyperreflexia, a small
foramen, or sleep apnea. If MRI confirms stenosis, these
investigators believe that surgical decompression is
FIGURE 40-10  Magnetic resonance image of the craniocervical
junction shows severe foramen magnum stenosis with
impingement of the cervical cord restricting cerebrospinal
fluid flow.
warranted.70 Others argue that MRI scans show abnormali-
ties in all infants with achondroplasia and that the natural
history is one of improvement with growth. These investiga-
tors assert that surgery is necessary only in the presence of
neurologic symptoms or the appearance of spinal cord
changes or a lack of cerebrospinal fluid flow on MRI scans.45,81
The treatment of obstructive sleep apnea involves the
otolaryngologist and may require tonsillectomy, adenoidec-
tomy, or, in very rare cases, tracheostomy.31,56,90 Although
orthopaedic surgery is not needed for either form of sleep
apnea, the orthopaedist often oversees the care of the
achondroplastic child and must be aware of these poten-
tially dangerous problems so that timely referrals can
be made.
Hydrocephalus
The appearance of an enlarged head in children with achon-
droplasia may raise concern about the presence of hydro-
cephalus. Hydrocephalus does occur on rare occasions in
children with achondroplasia and is usually the communi-
cating type.23,28,32 Chiari malformations have also been
seen.105 Growth and head circumference charts specific to
children with achondroplasia are available.41,59 Any devia-
tion from these charts merits attention.
Thoracolumbar Kyphosis
Thoracolumbar kyphosis is a developmental problem that
becomes evident in the slightly older infant with achondro-
plasia. Kyphosis at the thoracolumbar junction is seen in
almost all young achondroplastic infants. The kyphosis is
most noticeable when the infant is placed in a sitting posi-
tion. As the child learns to walk, muscle tone and trunk
control improve, and the kyphosis usually resolves without
treatment.48

Etiology
Investigators have proposed that the large head size of the
infant, combined with low muscular tone, lack of trunk
control, and a tendency toward hip flexion, leads to the
kyphotic deformity.
Unsupported sitting by hypotonic infants with achon-
droplasia has been suggested to lead to the development
of kyphosis. Avoidance of unsupported sitting in achon-
droplastic infants and early bracing with thoracolumbosa-
cral orthoses in infants with kyphosis have been
recommended. The rationale for early bracing is that struc-
tural changes in the anterior vertebral bodies (e.g., anterior
beaking and wedging) may be prevented with earlier
support. More commonly, brace treatment is reserved for
children whose kyphosis is still present at 3 years of age96
or does not resolve when the child becomes ambulatory
(Fig. 40-11).
Treatment
Surgical intervention is required for the few young children
who have persistent kyphosis. Untreated kyphosis, when
combined with spinal stenosis, may lead to the development
of neurologic deficits in later childhood. This risk has
prompted recommendations of surgery for patients with
progressive kyphosis and for children 5 years old or older
who have 30 degrees of residual kyphosis at the thoraco-
lumbar junction.96 More recently, fusion has been recom-
mended for all pediatric patients with kyphosis who are
A B
FIGURE 40-11  A, Lateral radiograph of a girl age 1 year and 9 months with achondroplasia. Note the beaklike irregularities of the
anterior vertebral bodies at the thoracolumbar junction. B, The child was treated with a thoracolumbosacral orthosis. C, Radiograph at 8
years of age shows persistent kyphosis with stenosis that required decompression and fusion.
CHAPTER 40  Skeletal Dysplasias e377
undergoing laminectomy for decompression of stenosis and
for all children who have kyphosis measuring 50 degrees or
more that is accompanied by progressive deformities.1
Surgery consists of anterior and posterior spinal arthro­
desis.11 Anterior surgery combines diskectomy with anterior
strutting with rib graft (Fig. 40-12). Posterior fusion may
be accomplished without the use of internal hardware. Cur-
rently, posterior instrumentation is used with great caution.
The stenotic spinal canal and lack of subarachnoid fluid
space leave little room for the use of instrumentation in the
spinal canal. Paraplegia has been reported as a complication
of posterior instrumentation.96
Studies of achondroplastic patients who underwent lam-
inectomy combined with posterior fusion with pedicle
screw fixation1,3 found that when only pedicle screws are
used as bony anchors, the spinal canal is not further impinged
by instrumentation (Fig. 40-13). Posterior instrumentation
has been successfully used in children as young as 5.5 years.
With intraoperative neurologic monitoring and wake-up
tests as needed, an average 50% correction of kyphosis has
been obtained without neurologic complications.
The use of anterior instrumentation to maintain correc-
tion of kyphosis together with noninstrumented posterior
fusion has been described in children with achondroplasia
as young as 4 years of age. Indications for anterior surgery
with instrumentation include insufficient pedicle size, the
need for anterior decompression, and rigid kyphosis as doc-
umented by an inability to reduce the kyphosis to less than
50 degrees on a hyperextension radiograph.1 Technical
C
e378 SECTION VII  Other Orthopaedic Disorders

points include correcting kyphosis only as much as the

patient can achieve on a hyperextension lateral radiograph Clinical Features
while he or she is awake. Anatomic changes seen in the lumbar spine include thicken-
ing of the pedicles, hypertrophy of the facets, and enlarge-
Spinal Stenosis ment of the laminae.33 These abnormalities lead to spinal
stenosis, which becomes symptomatic most often in the
Etiology third decade of life, but earlier (in the teen years) in some
Interpedicular narrowing in the lumbar spine results from patients. One third of patients with achondroplasia and
abnormal growth of the pedicles in the achondroplastic symptomatic spinal stenosis present by age 15 years. Patients
spine. with spinal stenosis complain of neurogenic claudication, or

B C
FIGURE 40-12  A, A 5-year-old boy with persistent thoracolumbar kyphosis despite bracing. B, Anterior vertebral body changes are seen
in the apex of the kyphosis. C, Anterior spinal fusion with two rib strut grafts and posterior spinal fusion without instrumentation was
performed.

E
FIGURE 40-12, cont’d  D, Lateral radiograph at 12 years of age (7 years after surgery) shows solid anterior fusion. E, Clinical photo at age
12 years. The patient is asymptomatic.
pain in the lower back and legs that is exacerbated by activ-
ity.25 These patients relieve the pain by bending over or
squatting, which reduces the amount of lumbar lordosis and
thereby increases the size of the spinal canal. As the stenosis
continues, walking endurance decreases and neurologic
signs such as clonus, hyperreflexia, lower extremity weak-
ness, bowel and bladder dysfunction, and myelopathy
may develop.96 Paresthesias are common, whereas sensory
changes occur less frequently.
Not all patients with achondroplasia develop symptom-
atic stenosis, even though all do have anatomic stenosis.
CHAPTER 40  Skeletal Dysplasias e379
Thoracolumbar kyphosis (regardless of its magnitude), an
L1 interpedicular distance less than 20 mm, an L5 interpe-
dicular distance less than 16 mm, and large structural
lumbar lordosis have been associated with disabling symp-
toms, which develop by the age of 30 years in most
patients.42 The coexistence of thoracolumbar kyphosis with
stenosis can lead to neurologic compromise.101 The additive
effects of thoracolumbar junction kyphosis, degenerative
disk narrowing, lumbar hyperlordosis, and interpedicular
narrowing lead to critical narrowing of the spinal canal and
a predisposition to neurologic deficits.96
e380 SECTION VII  Other Orthopaedic Disorders

A B

C D
FIGURE 40-13  Anteroposterior (AP) (A) and lateral (B) radiographs of an 8-year-old girl with kyphosis secondary to achondroplasia.
AP (C) and lateral (D) radiographs 3 years after anterior and posterior fusion with pedicle screw instrumentation and decompression.

FIGURE 40-14  Myelographic appearance in a 6-year-old girl with
spinal stenosis secondary to achondroplasia. Myelography shows
indentation of the narrowed dye column and confirms significant
lumbar stenosis.
Radiographic Findings
MRI is useful in identifying the extent of the stenosis.
Computed tomography (CT) myelography documents the
stenosis well (Fig. 40-14). When myelography is performed,
a cisternal puncture is required because a lumbar puncture
may exacerbate neurologic compromise.92 MRI and myelog-
raphy are used not only to identify the number of levels
with significant stenosis but also to assess the intervertebral
disks for other pathologic processes that would affect the
child’s neurologic status (Fig. 40-15).
Treatment
Treatment is by surgical posterior decompression. Laminec-
tomy usually fails to decompress enough of the neural
elements, and a more lateral decompression (including
undercutting of the facet joints) usually is necessary.51 If
possible, the facet resection should be minimal, consisting
of undercutting and removing the medial portion of the
inferior facet. Wide decompression must be performed in
combination with foraminotomies of the lateral recesses.
Some authors suggest that the decompression extend three
levels cephalic to the myelographic block, at least to S2,
and laterally at least to the facets.76 The common error in
decompressing stenosis in achondroplasia is to address too
few levels.
Because of the stenosis and preexisting neurologic symp-
toms, intraoperative SSEP monitoring usually is not possi-
ble. Additional technical difficulty is encountered in safely
CHAPTER 40  Skeletal Dysplasias e381
FIGURE 40-15  Magnetic resonance image of a 6-year-old girl with
stenosis throughout the lumbar spine.
removing the laminae in the absence of a normal subarach-
noid space. High-speed burrs are used to thin the laminae,
followed by curettage to remove the remaining bone gently.
There may be no room in the spinal canal for the usual
Kerrison rongeurs.96
Because instability rarely develops even after wide
decompression, primary fusion usually is not indicated.97
When fusion is performed, instrumentation within the
spinal canal is contraindicated because of the risk of paraple-
gia. Fusion generally is indicated in achondroplastic spinal
stenosis only when thoracolumbar kyphosis is present.96 The
fusion is performed posterolaterally, with postoperative
immobilization in a cast when the apical vertebrae in the
kyphotic segment are only mildly wedged and the patient
has no preexisting neurologic compromise. If neurologic
deficits are present, anterior decompression and fusion with
rib or fibular strut grafting and posterolateral fusion with
laminectomies are recommended. Instrumentation posteri-
orly with pedicle screw fixation is possible as well because
the fixation does not violate the decompressed canal.
Neurologic deficits of short duration are usually revers-
ible with surgical decompression.57 Some patients have, or
later develop, compression adjacent to the myelographic
site of the stenosis. Recurrent symptoms may develop
because of hypertrophic scarring at the site of initial decom-
pression, facet hypertrophy, or disk disease.2 Recurrence
of neurologic compromise requires additional decompres-
sion.76 Long multisegmental decompression of 10 or more
segments results in a lower likelihood of recurrent
symptoms.91
e382 SECTION VII  Other Orthopaedic Disorders
Angular Deformities of the Lower Extremities
Angular deformities of the lower extremities may develop
during childhood in patients with achondroplasia. Genu
varum and tibia vara are more common than valgus defor-
mity.9 Relative overgrowth of the fibula compared with the
tibia has been proposed as the cause of the varus.74 Despite
the presence of angular deformity, degenerative arthritic
changes in the knees are rare. For that reason, surgery is
suggested only for patients whose varus is symptomatic or
for those who find their deformity unacceptable cosmeti-
cally. Bracing has not been successful in the management of
genu varum in patients with achondroplasia. The use of
orthotics for genu varum has led to peroneal nerve palsy in
these patients.8
Proximal fibular epiphysiodesis has been recommended
for the treatment of tibia vara and fibular overgrowth in
patients with achondroplasia.74 Successful correction of
varus has been seen in patients between 7 and 10 years of
age. Although unpublished reports looked promising, other
investigators have found the procedure unpredictable.9
Overgrowth of the distal fibula has been described as the
cause of ankle varus in later childhood. Again, distal fibular
epiphysiodesis has been suggested.89
Surgical treatment of genu varum in achondroplasia most
commonly consists of proximal tibial and fibular osteotomy
with fixation (Fig. 40-16). Stabilization of the osteotomy
has been achieved with crossed pins, internal fixation, and
external fixation. Except in severe cases, proximal osteoto-
mies are sufficient to correct both the genu varum and the
varus at the ankle.9 Patients with achondroplasia have liga-
mentous laxity. Thus during surgery attention must be
directed toward restoring the mechanical axis through
precise bony realignment rather than through the knee joint
by stressing the loose medial collateral ligament.
Hip flexion contractures are commonly seen in patients
with achondroplasia. However, surgical release of the con-
tractures is not necessary.
Elbow Deformity
Lack of full elbow extension is commonly seen in patients
with achondroplasia. Posterior bowing of the humerus and
posterior radial head dislocation are causative. Treatment
has not been advocated, but correction of the flexion defor-
mity of the distal humerus is possible in the subset of
patients who undergo humeral lengthening procedures.7,47
Short Stature
Limb Lengthening
Significant controversy exists regarding the lengthening of
short extremities in patients with achondroplasia to achieve
a taller stature. Little People of America, a support group
of patients and families with bone dysplasias, does not
support the use of surgical lengthening to increase height.
Nonetheless, limb lengthening is performed in various
centers, particularly in Europe.
Adolescence usually is the time when lengthening is
undertaken30,66,104 (Fig. 40-17). The usual length achieved
with a single surgical lengthening procedure is 7 to
15 cm,5,19,75 although some authors report greater gains in
length.17,20 Lengthening of approximately 35% of initial
bone length may be achieved, but complications are fre-
quent when greater lengthening is attempted.75 In a series
of 80 patients with achondroplasia who underwent length-
ening for stature, 39% sustained complications, but the
average height gain was 20 cm.4 Leg lengthening does add
height. However, the usual gains seen as a result of surgical
lengthening do not place the patient within the range of
normal height, but instead place him or her at the tall end
of height for dwarfism. A marked increase in height may be
achieved by staged lengthenings of both tibiae and femora.73
This approach subjects the child to multiple operations and
hospitalizations, however. In a small study comparing body
image before and after leg lengthening, an improvement in
self-image was found after lengthening, but achondroplastic
patients still had a more negative body image than a normal
control group despite the limb lengthening.24
Some centers advocate simultaneous bilateral femoral
or bilateral tibial lengthening, whereas others find that the
lengthening procedures are better tolerated if one femur
and the contralateral tibia are lengthened together. Unilat-
eral tibial and femoral lengthening is not recommended
because if the patient does not tolerate the lengthening and
either refuses or is unable to undergo the contralateral pro-
cedure, the child is left with a limb length discrepancy.
Lengthening of the humeri follows the lower extremity
lengthenings.
The technical considerations that pertain to lengthening
through callotasis or chondrodiastasis are discussed in
greater detail in Chapter 24. The tissues in patients with
achondroplasia, such as muscle and ligaments, tolerate
lengthening with fewer problems than in other shortening
conditions, such as congenital short femur, probably because
the muscle lengths exceed bone lengths before lengthen-
ing.66 Nonetheless, complications such as infection, joint
stiffness, and even death have been reported in patients
with achondroplasia. Patients with achondroplasia seem to
be at increased risk for development of peroneal nerve palsy
during lengthening, and footdrop has been noted in up to
one third of patients.19 Upper extremity lengthening also
may be complicated by radial nerve palsy.44
One study found that femoral lengthening can lead to an
improvement in sacral inclination by tensioning the gluteus
maximus and hamstrings. Corticotomy (in bifocal lengthen-
ings) proximal to the insertions of these muscles led to a
more upright posture, with a less protuberant abdomen and
buttocks.68
Growth Hormone
Growth hormone is used to augment the height of patients
with achondroplasia.62,103 Early results indicate that some,
but not all, children with achondroplasia experience
increased longitudinal growth while receiving growth
hormone.40,88,99 The greatest acceleration in growth velocity
has been seen during the first year of treatment.46,88 Prelimi-
nary reports find that increases in growth rate and height
seem to be dose dependent, with best results seen in chil-
dren who start treatment early.77,85 It is unclear whether
treatment with growth hormone leads to an increase in the
body disproportion.77,86,93 Administration of growth hormone
continues on an investigational basis, and final judgment of
its efficacy should be reserved until the patients in these
studies reach their final adult height.
 CHAPTER 40  Skeletal Dysplasias e383

A B

C D E
FIGURE 40-16  A, A 12-year-old girl with achondroplasia and symptomatic genu varum. B, Radiographs of the lower extremities reveal
bilateral tibia vara. C, Correction by bilateral proximal and distal tibial osteotomy and Ilizarov fixation. D, Postoperative appearance of the
lower extremities after valgus osteotomy with external fixation of tibiae. E, Radiograph after healing and removal of fixators.
e384 SECTION VII  Other Orthopaedic Disorders
A B
FIGURE 40-17  A, A 14-year-old girl with achondroplasia: before limb lengthening. She is standing next to her mother. B, Postoperative
appearance of the child after lengthening of the lower extremities.
Outcomes Research
A survey was performed using the database from the Little
People of America.52 The Short Form 36 (SF-36) was
administered to 437 individuals with achondroplasia at an
average age of 38 years. Although the mental components
of the questionnaire were identical to normal data, achon-
droplastic patients scored significantly lower on the age-
and gender-adjusted physical component summary scores.
Scores were significantly different beginning in the fourth
decade of life and were closely linked to the need for ortho-
paedic procedures.52
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Hypochondroplasia
Hypochondroplasia is a rare form of dwarfism that resem-
bles achondroplasia but is less severe.
Genetics
Like achondroplasia, hypochondroplasia is transmitted as
an autosomal dominant trait, and its gene defect encodes
for FGFR-3. The genetic difference between achondropla-
sia and hypochondroplasia is the specific amino acid muta-
tion, and therefore achondroplasia and hypochondroplasia
are allelic disorders (different mutations occurring at the
same gene locus).3,4,12 Because of the greater variability in
the mutation that causes hypochondroplasia, there is more
variability in the clinical expression of the gene.5 The
N540K mutation in the FGFR3 gene is one of the most
frequently documented abnormalities. The estimated
 CHAPTER 40  Skeletal Dysplasias e387

incidence of hypochondroplasia is 3 to 4 per 1 million live

births.20,21

Clinical Features
The condition cannot be detected at birth and, if mild, may
remain undiagnosed throughout the person’s life. Clinically,
patients with hypochondroplasia are short but less so than
those with achondroplasia. The spectrum of severity is
wide, ranging from severe short-limbed dwarfism to short,
apparently normal prepubertal children who manifest dis-
proportion only after failure to achieve a pubertal growth
spurt.2 The ratio of sitting height to standing height is
increased, but the body disproportion may not be apparent
until puberty. Final height has been reported between 118
and 165 cm.10 The head appears only slightly enlarged com-
pared with the limbs, although the forehead is large and
high. Some patients have small hands.16

Radiographic Findings
The following are the primary radiographic criteria for
the diagnosis of hypochondroplasia9: (1) a narrowed or
unchanged lumbar interpedicular distance; (2) squared,
shortened ilia; (3) a short, broad femoral neck; (4) short
tubular bones, with metaphyseal flaring; and (5) mild to
moderate brachydactyly. Secondary criteria are (1) AP FIGURE 40-18  Anteroposterior lower extremities radiograph of a
shortening of lumbar pedicles, (2) dorsal concavity of the 7-year-old girl with hypochondroplasia. The patient has mild genu
lumbar spine, (3) a long distal fibula, (4) a short distal ulna, varum.
and (5) a long ulnar styloid. The radiographic features may
be subtle, leading to missed diagnosis in up to half of cases.14

Orthopaedic Considerations
Orthopaedic problems are similar to those seen in achon-
droplasia. Lumbar lordosis usually is accentuated, and
mild interpedicular narrowing can predispose some patients
with hypochondroplasia to symptomatic spinal stenosis.
The fibula is longer than the tibia,13 and genu varum may
develop in approximately 8% of patients (Fig. 40-18).21
Mild flexion contractures of the elbow and knee develop in
some cases. Radial head dislocation is rare but may occur
(Fig. 40-19).

Treatment
Leg lengthening has been performed in patients with hypo-
chondroplasia and can result in enough gain in length to
place the child in the low-normal range.1,7,8,19,22 Growth
hormone therapy remains investigational at this time.2,11,17
The response to growth hormone is greatest during the first
year of use.6 The response varies among patients, perhaps
because of the genetic heterogeneity of the disease, although
it is known that patients with hypochondroplasia respond
more favorably to growth hormone therapy with greater
increases in height than do patients with achondroplasia.18
Growth hormone therapy has been used successfully in
patients with hypochondroplasia who do not exhibit an
adolescent growth spurt.15 FIGURE 40-19  Radial head dislocation in a 13-year-old girl with
Disabling symptoms do not occur, and the patient’s life hypochondroplasia. The patient is asymptomatic but has mild
expectancy is normal. flexion contractures.
e388 SECTION VII  Other Orthopaedic Disorders
References
Hypochondroplasia
1. Aldegheri R, Renzi-Brivio L, Agostini S: The callotasis method of
limb lengthening, Clin Orthop Relat Res 241:137, 1989.
2. Appan S, Laurent S, Chapman M, et al: Growth and growth
hormone therapy in hypochondroplasia, Acta Paediatr Scand
79:796, 1990.
3. Baitner AC, Maurer SG, Gruen MB, et al: The genetic basis of the
osteochondrodysplasias, J Pediatr Orthop 20:594, 2000.
4. Bellus GA, Hefferon TW, Ortiz de Luna RI, et al: Achondroplasia
is defined by recurrent G380R mutations of FGFR3, Am J Hum
Genet 56:368, 1995.
5. Bonaventure J, Rousseau F, Legeai-Mallet L, et al: Common muta-
tions in the gene encoding fibroblast growth factor receptor 3
account for achondroplasia, hypochondroplasia and thanatophoric
dysplasia, Acta Paediatr Suppl 417:33, 1996.
6. Bridges NA, Hindmarsh PC, Brook CG, et al: Growth of children
with hypochondroplasia treated with growth hormone for up to
three years, Horm Res 36(Suppl 1):56, 1991.
7. Correll J: Surgical correction of short stature in skeletal dysplasias,
Acta Paediatr Scand Suppl 377:143, 1991.
8. De Bastiani G, Aldegheri R, Renzo-Brivio L, et al: Chondrodiatasis-
controlled symmetrical distraction of the epiphyseal plate. Limb
lengthening in children, J Bone Joint Surg Br 68:550, 1986.
9. Hall JG: Hypochondroplasia, Birth Defects Orig Art Series 5:267,
1969.
10. Hertel NT, Muller J: Anthropometry in skeletal dysplasia, J Pediatr
Endocrinol 7:155, 1994.
11. Key LL Jr, Gross AJ: Response to growth hormone in children with
chondrodysplasia, J Pediatr 128:S14, 1996.
12. Prinos P, Costa T, Sommer A, et al: A common FGFR3 gene muta-
tion in hypochondroplasia, Hum Mol Genet 4:2097, 1995.
13. Prinster C, Carrera P, Del Maschio M, et al: Comparison of
clinical-radiological and molecular findings in hypochondroplasia,
Am J Med Genet 75:109, 1998.
14. Prinster C, Del Maschio M, et al: Diagnosis of hypochondroplasia:
the role of radiological interpretation. Italian Study Group for
Hypochondroplasia, Pediatr Radiol 31:203, 2001.
15. Ramaswami U, Hindmarsh PC, Brook CG, et al: Growth
hormone therapy in hypochondroplasia, Acta Paediatr Suppl
88:116, 1999.
16. Rousseau F, Bonaventure J, et al: Clinical and genetic heterogeneity
of hypochondroplasia, J Med Genet 33:749, 1996.
17. Shohat M, Tick D, Barakat S, et al: Short-term recombinant
human growth hormone treatment increases growth rate in achon-
droplasia, J Clin Endocrinol Metab 81:4033, 1996.
18. Tanaka N, Katsumata N, Horikawa R, et al: The comparison of
the effects of short-term growth hormone treatment in patients
with achondroplasia and with hypochondroplasia, Endocr J 50:69,
2003.
19. Trivella G, Aldegheri R: Surgical correction of short stature, Acta
Paediatr Scand Suppl 347:141, 1988.
20. Wynne-Davies R, Hall CM, Apley AG: Atlas of skeletal dysplasias,
Edinburgh, 1985, Churchill Livingstone
21. Wynne-Davies R, Walsh WK, Gormley J: Achondroplasia and
hypochondroplasia: clinical variation and spinal stenosis, J Bone
Joint Surg Br 63:508, 1981.
22. Yasui N, Kawabata H, Kojimoto H, et al: Lengthening of the lower
limbs in patients with achondroplasia and hypochondroplasia, Clin
Orthop Relat Res 344:298, 1997.
Thanatophoric Dwarfism
Thanatophoric dwarfism is the most common lethal form
of dwarfism.
Genetics
The genetic basis for the disease is found on the same FGFR
gene responsible for achondroplasia and hypochondroplasia,
but the mutation is different.1,15-17 Because the disease is
fatal, all cases result from spontaneous mutations. The inci-
dence of thanatophoric dwarfism is between 0.2 and 0.5 per
10,000 births.12 As with achondroplasia, a link with older
paternal age is recognized.13
Prenatal Diagnosis
Prenatal diagnosis of this condition is possible with ultraso-
nography.4,5,9 Images reveal the following features: short,
squat upper and lower limbs; bowed femora; a narrow
thorax; polyhydramnios; and relative enlargement of the
head.3,8 Although ultrasonography has been shown to be
96% accurate in predicting the presence of a lethal skeletal
dysplasia, it precisely identifies the exact dysplasia in only
48% of fetuses.18 Obstetric plain radiographs may be
required to support the diagnosis.14 Severe platyspondyly is
a characteristic feature on both ultrasonography and plain
radiography in thanatophoric dysplasia. Molecular genetic
diagnosis can be made by identifying the missense muta-
tions in the FGFR3 gene in suspected cases.2
Clinical Features
Two forms of thanatophoric dwarfism exist and are differ-
entiated by the absence (type 1) or presence (type 2) of a
“cloverleaf ” skull. Type 1 is more common. Histopathologic
study reveals significant brain malformations in both
types.6,19 Severe disturbances of ossification at the growth
plate are seen on histologic studies.7 Type 2 thanatophoric
dwarfism is differentiated from the classic type 1 histologi-
cally by many bone-lined, penetrating vascular canals in the
physis and by hyperactive osteoblasts and osteoclasts in the
metaphysis.20 In type 1 the femora are curved, whereas in
type 2 straight femora are associated with a cloverleaf
skull.15
Radiographic Findings
The radiographic features of thanatophoric dysplasia include
the following: markedly flattened vertebral bodies with
a typical U-shaped deformity; a flat, squat pelvis; and short
extremities with flaring and irregularity of the metaphy-
ses.11 The thorax is narrow, with short horizontal ribs
(Fig. 40-20).
Prognosis
Cardiorespiratory failure uniformly results in death in the
neonatal period.11 Thanatophoric dwarfism and the other,
less common, lethal chondrodysplasias are discussed in
detail by Maroteaux and associates.10
References
Thanatophoric Dwarfism
1. Bonaventure J, Rousseau F, Legeai-Mallet L, et al: Common muta-
tions in the fibroblast growth factor receptor 3 (FGFR 3) gene
 CHAPTER 40  Skeletal Dysplasias e389

A B

C
FIGURE 40-20  Thanatophoric dwarfism, characterized by a large head, very short limbs, and a narrow thorax. Anteroposterior (AP)
(A) and lateral (B) views of the thorax. Note the short, horizontal ribs and platyspondyly with notched end-plates. C, AP view of the
femora and tibiae. The long bones are shortened and bowed. The femora are shaped like telephone receivers. D, AP view of the right
hand and forearm. Note the short, broad phalanges, metacarpals, radius, and ulna.

account for achondroplasia, hypochondroplasia, and thanatophoric
dwarfism, Am J Med Genet 63:148, 1996.
2. Chen CP, Chern SR, Shih JC, et al: Prenatal diagnosis and genetic
analysis of type I and type II thanatophoric dysplasia, Prenat Diagn
21:89, 2001.
3. Cremin BJ, Shaff MI: Ultrasonic diagnosis of thanatophoric dwarf-
ism in utero, Radiology 124:479, 1977.
4. Csecsei K, Szeifert G, Nemes Z, et al: Pathomorphological findings
of a prenatally diagnosed thanatophoric dwarf, Prog Clin Biol Res
104:505, 1982.
5. Fink IJ, Filly RA, Callen PW, et al: Sonographic diagnosis of thana-
tophoric dwarfism in utero, J Ultrasound Med 1:337, 1982.
6. Ho KL, Chang CH, Yang SS, et al: Neuropathologic findings in
thanatophoric dysplasia, Acta Neuropathol (Berl) 63:218, 1984.
e390 SECTION VII  Other Orthopaedic Disorders
7. Horton WA, Hood OJ, Machado MA, et al: Abnormal ossification
in thanatophoric dysplasia, Bone 9:53, 1988.
8. Kassanos D, Botsis D, Katassos T, et al: Prenatal sonographic diag-
nosis of thanatophoric dwarfism, Int J Gynaecol Obstet 34:373,
1991.
9. Mahony BS, Filly RA, Callen PW, et al: Thanatophoric dwarfism
with the cloverleaf skull: a specific antenatal sonographic diagnosis,
J Ultrasound Med 4:151, 1985.
10. Maroteaux P, Stanescu V, Stanescu R: The lethal chondrodyspla-
sias, Clin Orthop Relat Res 114:31, 1976.
11. Nissenbaum M, Chung SM, Rosenberg HK, et al: Thanatophoric
dwarfism: two case reports and survey of the literature, Clin
Pediatr (Phila) 16:690, 1977.
12. Orioli IM, Castilla EE, Barbosa-Neto JG, et al: The birth
prevalence rates for the skeletal dysplasias, J Med Genet 23:328,
1986.
13. Orioli IM, Castilla EE, Scarano G, et al: Effect of paternal age in
achondroplasia, thanatophoric dysplasia, and osteogenesis imper-
fecta, Am J Med Genet 59:209, 1995.
14. Pretorius DH, Rumack CM, Manco-Johnson ML, et al: Specific
skeletal dysplasias in utero: sonographic diagnosis, Radiology
159:237, 1986.
15. Rousseau F, el Ghouzzi V, Delezoide AL, et al: Missense FGFR3
mutations create cysteine residues in thanatophoric dwarfism type
I (TD1), Hum Mol Genet 5:509, 1996.
16. Su WC, Kitagawa M, Xue N, et al: Activation of Stat1 by mutant
fibroblast growth-factor receptor in thanatophoric dysplasia type
II dwarfism, Nature 386:288, 1997.
17. Tavormina PL, Shiang R, Thompson LN, et al: Thanatophoric
dysplasia (types I and II) caused by distinct mutations in fibroblast
growth factor receptor 3, Nat Genet 9:321, 1995.
18. Tretter AE, Saunders RC, Meyers CM, et al: Antenatal diagnosis
of lethal skeletal dysplasias, Am J Med Genet 75:518, 1998.
19. Wongmongkolrit T, Bush M, Roessmann U: Neuropathological
findings in thanatophoric dysplasia, Arch Pathol Lab Med 107:132,
1983.
20. Yang SS, Heidelberger KP, Brough AJ, et al: Lethal short-limbed
chondrodysplasia in early infancy, Perspect Pediatr Pathol 3:1,
1976.
Pseudoachondroplasia
Pseudoachondroplasia is characterized by short-limbed
dwarfism in which both the epiphyses and metaphyses
are involved. Affected individuals have significantly short
stature, loose ligaments, and a predisposition to premature
osteoarthritis. Pseudoachondroplasia was first described by
Maroteaux and Lamy in 1959.15 In 1961, Ford and associ-
ates clearly differentiated pseudoachondroplasia from
achondroplasia and spondyloepiphyseal dysplasia (SED).9
The prevalence of pseudoachondroplasia is estimated at 4
per 1 million.
Genetics
Pseudoachondroplasia is usually transmitted as an autoso-
mal dominant trait. Whether autosomal recessive forms
exist or whether familial recurrence of pseudoachondro-
plasia is the result of mosaicism remains debated.8 In
either case, the two types of inheritance are not distin-
guishable radiographically or clinically. Four forms have
been identified: autosomal dominant severe, autosomal
dominant mild, autosomal recessive severe, and autosomal
recessive mild.23
Most cases are the result of spontaneous mutations.
Investigators have found a genetic linkage of pseudoachon-
droplasia to the pericentromeric region of chromosome
19.5,10 This region encodes for cartilage oligomeric matrix
protein (COMP), which is a large extracellular matrix
protein expressed in cartilage, ligament, and tendon tissue.11
COMP plays a role in calcium binding within cartilage.3 A
disruption of calcium-dependent proteoglycan binding by
COMP has been suggested to result in the accumulation of
proteoglycan in chondrocytes.7 Accumulations of massive
amounts of COMP within iliac crest chondrocytes have
been found to lead to chondrocyte death in specimens
harvested from affected individuals.11 Premature death of
physeal chondrocytes results in decreased linear growth. In
addition, the extracellular matrix is deficient in COMP, a
finding that predisposes the articular cartilage to degrada-
tion and subsequent arthritis.18 Similar mutations in the
COMP gene are seen in some forms of MED, thus indicat-
ing phenotypic overlap between pseudoachondroplasia and
MED.4 Mutation screening for abnormalities in the COMP
gene is available for diagnostic purposes.13
Pathology
Histologic studies of cartilage from patients with pseudoa-
chondroplasia reveal noncollagenous protein accumulated in
the rough endoplasmic reticulum of chondrocytes.19 Elec-
tron microscopic studies of iliac crest specimens have dem-
onstrated abnormalities in proteoglycans.17
Clinical Features
The appearance of newborns with pseudoachondroplasia is
normal, and the dysplasia is not clinically apparent until 1
to 3 years of age, when rhizomelic shortening becomes
noticeable. Adult height ranges from 106 to 130 cm.1
Growth curve charts specific to pseudoachondroplasia are
available.12
The skull and facies in pseudoachondroplasia are normal,
and this finding is helpful in differentiating the disorder
from achondroplasia, in which frontal bossing and midface
hypoplasia are present (Fig. 40-21). The features distin-
guishing between pseudoachondroplasia and achondroplasia
are summarized in Table 40-2.
The fingers and toes of patients with pseudoachondro-
plasia are short and thick (Figs. 40-22 and 40-23).
Patients may have mild thoracolumbar kyphosis, and
scoliosis develops in a few patients. Lumbar lordosis usually
is pronounced (Fig. 40-24).
Angular deformity of the lower extremities is common
in pseudoachondroplasia. Genu valgum or varum may occur.
Some children develop “windswept” deformities of the
knees, in which genu valgum is present on one side and genu
varum on the other (see Fig. 40-21). Patients with pseudo­
achondroplasia have marked ligamentous laxity,22 which can
accentuate angular deformity of the lower extremities. Pes
planus is common.
Radiographic Findings
Spinal radiographs reveal mild platyspondyly, with anterior
tonguelike projections and irregular end-plates (Fig. 40-25).
 CHAPTER 40  Skeletal Dysplasias e391

The interpedicular distance in the lumbar spine is normal
in pseudoachondroplasia, unlike in achondroplasia (Fig.
40-26). Scoliosis may be present in teenage patients.
Cervical spinal radiographs may reveal odontoid hypo-
plasia, such as that seen in other SEDs. Atlantoaxial instabil-
ity may be evident on flexion-extension lateral cervical spine
radiographs.
The long bones are short and broad, with flaring of the
metaphyses. Ossification of the epiphyses is delayed. When
the epiphyses do ossify, they appear irregular and frag-
mented. The hip and knee are most severely affected (Fig.
40-27). Genu varum or valgum can be present (Fig. 40-28).
The appearance of fragmented ossific nuclei of the
femoral heads may resemble what is seen in other SEDs
and even bilateral Legg-Calvé-Perthes disease. Features of
pseudoachondroplasia that distinguish it from bilateral
Legg-Calvé-Perthes disease are synchronous symmetric

FIGURE 40-21  A boy 5 years and 4 months of age with

pseudoachondroplasia. His face appears normal; his limbs are FIGURE 40-22  In pseudoachondroplasia the fingers are short and
short, with valgus of the right knee and varus of the left knee. stubby.

Table 40-2  Features Distinguishing Pseudoachondroplasia and Achondroplasia

Features Pseudoachondroplasia Achondroplasia

Inheritance Heterogeneous; both autosomal dominant Autosomal dominant

and recessive Almost all new mutants
Most sporadic
Skull and facies Normal Bulging forehead; low nasal bridge
Sometimes hydrocephalic
Spine Lumbar lordosis Severe lumbar lordosis
No progressive narrowing of interpedicular Progressive narrowing of interpedicular
distance distance in lumbar spine
Platyspondyly with anterior central breaking No platyspondyly; short pedicles
Long bones Both epiphysis and metaphysis affected Epiphysis normal (only metaphysis affected)
Epiphysis delayed in ossification, irregular, Wide metaphysis
and fragmented
Flared metaphysis
Pelvis and sciatic notch Shallow acetabulum Horizontal acetabular roof
Wide great sciatic notch Great sciatic notch narrowed to a slit
Flared iliac wings Squared iliac wing
Problems and Degenerative arthritis from incongruous Spinal stenosis from narrow spinal canal
complications weight bearing (hip and knee joints) Tibia vara
Tibia vara
e392 SECTION VII  Other Orthopaedic Disorders

FIGURE 40-23  Anteroposterior radiograph of the hands in

pseudoachondroplasia shows shortened, thick metacarpals and
phalanges.

FIGURE 40-25  Platyspondyly with anterior tonguelike projections

and increased lumbar lordosis, characteristic of
pseudoachondroplasia.

FIGURE 40-24  Increased lumbar lordosis occurs in

pseudoachondroplasia as a result of hip flexion contractures.

involvement and the finding that the epiphyses do not

develop progressive lucencies in pseudoachondroplasia.6
The pelvis has normal sciatic notches. The acetabula are
shallow but not horizontal. The triradiate cartilage is
widened, as is the ischiopubic junction (Fig. 40-29). Epiph-
yseal involvement leads to flattening and enlargement of the
femoral heads, with subluxation of the hip. Degenerative
arthritis develops in response to the incongruity.

Orthopaedic Considerations
Lower Extremity Malalignment
Lower extremity malalignment usually requires corrective
osteotomies. In genu varum associated with achondroplasia,
FIGURE 40-26  Posteroanterior radiograph in
pseudoachondroplasia showing normal interpedicular distance
in the lumbar spine. In achondroplasia, by contrast, there is
progressive narrowing of the lumbar interpedicular distance.

FIGURE 40-27  Flared metaphyses and irregular epiphyses are
features of pseudoachondroplasia. Note the absence of proximal
femoral ossific nuclei at the hip in this 5-year-old child.
FIGURE 40-28  Anteroposterior radiograph of the lower extremities
in a 4-year-old girl with pseudoachondroplasia. She has bilateral
coxa vara and significant genu valgum on the right.
CHAPTER 40  Skeletal Dysplasias e393
FIGURE 40-29  Anteroposterior radiograph of the pelvis in a
6-year-old girl with pseudoachondroplasia. Note the very small
and irregular ossific nuclei.
the deformity is present solely within the tibia; in pseudo­
achondroplasia, however, the bony deformity often is
evident in both the proximal tibia and the distal femur. For
this reason, careful preoperative planning with weight-
bearing radiographs of the entire lower extremity is neces-
sary to correct the malalignment. When distal femoral varus
is present, valgus osteotomy of the distal femur should be
performed. It may be difficult to assess correction of the
knee during surgery because of the epiphyseal malforma-
tion. Thus arthrography at the time of surgery may be
helpful in documenting knee alignment.1 Care must be
taken in assessing the contribution of ligamentous laxity to
the skeletal deformity. Recurrence of deformity with growth
is common.14
Hip
Surgical treatment of the hip in pseudoachondroplasia is
difficult given the incongruity of the femoral head with the
acetabulum. The femoral head is flattened and poorly
covered by the small, shallow acetabulum. Varus osteotomy
of the proximal femur usually creates more incongruity.
Valgus osteotomy of the proximal femur may improve joint
congruity and enhances abductor function by moving the
greater trochanter distally and laterally.2 Redirectional oste-
otomies of the pelvis, such as the Salter osteotomy or the
triple innominate osteotomy of Steel, are not helpful in
pseudoachondroplasia because a prerequisite for these oste-
otomies is concentric congruity of the joint. In a few cases,
Chiari osteotomy or shelf acetabular augmentation may
improve coverage of the femoral head.2
Patients with pseudoachondroplasia develop premature
osteoarthritis of the hip secondary to the epiphyseal defor-
mities of the femoral heads (Fig. 40-30). In a study of the
natural history of pseudoachondroplasia, approximately
50% of adult patients had undergone total hip arthroplasty.16
Joint replacement in this patient population is technically
demanding because of the joint dysplasia and short bones.
e394 SECTION VII  Other Orthopaedic Disorders
FIGURE 40-30  Radiograph of a 15-year-old girl with
pseudoachondroplasia. The femoral heads are irregular.
The patient is likely to develop early osteoarthritis.
Thoracolumbar Kyphosis and Lumbar Lordosis
Thoracolumbar kyphosis is rarely problematic in pseudo­
achondroplasia. Lumbar hyperlordosis may be accentuated.
Tolo proposed that the cause of increased lordosis is hip
flexion contracture, which may be treated by proximal
femoral extension osteotomy.21
Cervical Atlantoaxial Instability
Cervical atlantoaxial instability is associated with pseudo­
achondroplasia and results from odontoid hypoplasia in the
setting of ligamentous laxity. Neurologic symptoms range
from increased fatigability and decreased walking endur-
ance to myelopathy. Flexion-extension lateral cervical spine
radiographs are used to quantify the amount of abnormal
movement, but MRI performed with the patient in flexion
and extension is the best way to observe the impact of the
instability on the cervical spinal cord. Surgical treatment of
patients with neurologic signs or symptoms consists of
atlantoaxial posterior fusion with immobilization in a halo
brace.20 An important part of any preanesthetic evaluation
of children with pseudoachondroplasia should be radio-
graphic studies for C1-2 instability.
Scoliosis
Scoliosis may occur in patients with pseudoachondroplasia.
Posterior fusion should be performed when indicated.
Instrumentation may be safely used in patients with
pseudoachondroplasia because they do not have spinal
stenosis.21
References
Pseudoachondroplasia
1. Bassett GS: Lower-extremity abnormalities in dwarfing conditions,
Instr Course Lect 39:389, 1990.
2. Bassett GS: Orthopaedic aspects of skeletal dysplasias, Instr
Course Lect 39:381, 1990.
3. Briggs MD, Hoffman SM, King LM, et al: Pseudoachondroplasia
and multiple epiphyseal dysplasia due to mutations in the cartilage
oligomeric matrix protein gene, Nat Genet 10:330, 1995.
4. Briggs MD, Mortier GR, Cole WG, et al: Diverse mutations
in the gene for cartilage oligomeric matrix protein in the
pseudoachondroplasia-multiple epiphyseal dysplasia disease spec-
trum, Am J Hum Genet 62:311, 1998.
5. Briggs MD, Rasmussen IM, Weber JL, et al: Genetic linkage
of mild pseudoachondroplasia (PSACH) to markers in the
pericentromeric region of chromosome 19, Genomics 18:656,
1993.
6. Crossan JF, Wynne-Davies R, Fulford GE: Bilateral failure of the
capital femoral epiphysis: bilateral Perthes disease, multiple epiph-
yseal dysplasia, pseudoachondroplasia, and spondyloepiphyseal
dysplasia congenita and tarda, J Pediatr Orthop 3:297, 1983.
7. Dietz FR, Mathews KD: Update on the genetic bases of disorders
with orthopaedic manifestations, J Bone Joint Surg Am 78:1583,
1996.
8. Ferguson HL, Deere M, Evans R, et al: Mosaicism in pseudoachon-
droplasia, Am J Med Genet 70:287, 1997.
9. Ford N, Silverman FN, Kozlowski K, et al: Spondyloepiphyseal
dysplasia (pseudoachondroplastic type), AJR Am J Roentgenol
86:462, 1961.
10. Hecht JT, Francomano CA, Briggs MD, et al: Linkage of typical
pseudoachondroplasia to chromosome 19, Genomics 18:661,
1993.
11. Hecht JT, Makitie O, Hayes E, et al: Chondrocyte cell death
and intracellular distribution of COMP and type IX collagen in
the pseudoachondroplasia growth plate, J Orthop Res 22:759,
2004.
12. Horton WA, Hall JG, Scott CI, et al: Growth curves for
height for diastrophic dysplasia, spondyloepiphyseal dysplasia
congenita, and pseudoachondroplasia, Am J Dis Child 136:316,
1982.
13. Kennedy J, Jackson G, Ramsden S, et al: COMP mutation screen-
ing as an aid for the clinical diagnosis and counselling of patients
with a suspected diagnosis of pseudoachondroplasia or multiple
epiphyseal dysplasia, Eur J Hum Genet 13:547, 2005.
14. Kopits SE: Orthopedic complications of dwarfism, Clin Orthop
Relat Res 114:153, 1976.
15. Maroteaux P, Lamy M: Les formes pseudoachondroplastiques des
dysplasies spondylo-epiphysaires, Presse Med 10:383, 1959.
16. McKeand J, Rotta J, Hecht JT: Natural history study of pseudo­
achondroplasia, Am J Med Genet 63:406, 1996.
17. Pedrini-Mille A, Maynard JA, Pedrini VA, et al: Pseudoachondro-
plasia: biochemical and histochemical studies of cartilage, J Bone
Joint Surg Am 66:1408, 1984.
18. Posey KL, Hayes E, Haynes R, et al: Role of TSP-5/COMP in
pseudoachondroplasia, Int J Biochem Cell Biol 36:1005, 2004.
19. Stanescu V, Stanescu R, Maroteaux P, et al: Pathogenic mecha-
nisms in osteochondrodysplasias, J Bone Joint Surg Am 66:817,
1984.
20. Svensson O, Aaro S: Cervical instability in skeletal dysplasia:
report of 6 surgically fused cases, Acta Orthop Scand 59:66, 1988.
21. Tolo VT: Spinal deformity in short-stature syndromes, Instr Course
Lect 39:399, 1990.
22. Wordsworth P, Ogilvie D, Smith R, et al: Joint mobility with
particular reference to racial variation and inherited connective
tissue disorders, Br J Rheumatol 26:9, 1987.
23. Wynne-Davies R, Hall CM, Younf ID: Pseudoachondroplasia: clini-
cal diagnosis at different ages and comparison of autosomal domi-
nant and recessive types: a review of 32 patients (26 kindreds),
J Med Genet 23:425, 1986.
Spondyloepiphyseal Dysplasia
SED is characterized by disproportionate dwarfism with
progressive involvement of the spine and epiphyses of the
long bones. There are two major types of SED. The con-
genita type is detectable at birth, whereas a milder tarda
type manifests later in childhood.

Spondyloepiphyseal Dysplasia Congenita
SED congenita results in obvious short-trunk dwarfism and
variable degrees of coxa vara, accompanied by abnormal
epiphyses and vertebral flattening. Shortening is rhizomelic
and mesomelic, with relative sparing of the hands and feet.
Genetics
Inheritance is by autosomal dominant transmission, but
most cases are sporadic. SED congenita is caused by muta-
tions in the COL2A1 locus on chromosome 12, which
encodes the type II procollagen α1 chain.24 This results in
abnormal type II collagen.2,7,9 The mutations seen in patients
with SED congenita are closely related to those that cause
Kniest dysplasia.8
Clinical Features
Clinically, short stature is present19 (Fig. 40-31). The
patient’s eyes are wide-set, the neck is short, and the chest
appears barrel shaped. Angular deformity of the lower
extremities, particularly genu valgum, is common. Lumbar
lordosis may be accentuated and is usually the result of hip
flexion contractures. The lordosis gives the abdomen a pro-
tuberant appearance. A waddling gait is produced by the
coxa vara. Clubfoot deformity can be seen in patients with
SED congenita.
Associated anomalies in SED congenita are cleft palate,
myopia with retinal detachment, cataracts, deafness, and
hernias.22,28 A rare form of SED congenita is associated with
nephrotic syndrome.6,33,34
A B
FIGURE 40-31  A to C, Clinical appearance of a 3-year-old boy with spondyloepiphyseal dysplasia congenita. The short neck and
increased lumbar lordosis are obvious.
CHAPTER 40  Skeletal Dysplasias e395
Radiographic Findings
Radiographic findings include the delayed appearance of the
epiphyses.10 The femoral heads are not apparent on radio-
graphs until the patient is approximately 5 years of age. The
ossification centers of the carpals and tarsals are delayed, as
are the secondary centers of ossification of the long tubular
bones. When the epiphyses do appear, they are flattened
and irregular in shape. The hands and feet show minimal
shortening on radiographs.
Coxa vara is present, and the disorder is further subdi-
vided into a group in which coxa vara is severe and a group
in which it is mild. Young infants with coxa vara may have
radiographic findings similar to those seen in developmental
dislocation of the hip. The iliac wings are small, and the
acetabula are usually horizontal (Fig. 40-32). Coxa vara can
be documented by ultrasonography in young infants.12
Platyspondyly is seen (Fig. 40-33), and kyphoscoliosis
may be apparent. Odontoid hypoplasia or os odontoideum
may be present, and cervical spine films should be rou-
tinely obtained in these patients to assess for atlantoaxial
instability. The radiographic appearance of the spine is
identical to that in Morquio syndrome and other
mucopolysaccharidoses.
Orthopaedic Considerations
Spine
Orthopaedic treatment begins with the cervical spine. Signs
of cervical instability include hypotonia, sleep apnea,
C
e396 SECTION VII  Other Orthopaedic Disorders
FIGURE 40-32  Radiographic abnormalities in spondyloepiphyseal
dysplasia congenita include delay in ossification of the femoral
heads and coxa vara.
FIGURE 40-33  Platyspondyly in a 2-year-old boy with
spondyloepiphyseal dysplasia congenita.
respiratory insufficiency, and myelopathy.30 Respiratory
insufficiency has been seen in infants with SED congenita
secondary to thoracic dysplasia16,27 and cervical spinal cord
compression. Thus children with pulmonary problems must
be carefully assessed for upper cervical instability. Signifi-
cant instability has been described in infants with SED
congenita who are younger than 1 year old. For this reason,
flexion and extension cervical radiographs should be
obtained before the administration of any anesthetic in chil-
dren with SED.32 In children with odontoid hypoplasia,
instability may be present with extension because the odon-
toid is not sufficiently large to prevent posterior migration
of C1 (Figs. 40-34 and 40-35). When odontoid hypoplasia
produces atlantoaxial instability, posterior cervical fusion
from the occiput or C1 to C2 with halo vest immobilization
is necessary.23,37,38 Instability of 8 mm or more or the pres-
ence of myelopathic symptoms is an indication for surgery.
The posterior ring of C1 may be incomplete, and this situ-
ation should be considered in the preoperative planning.38
In addition, the sagittal diameter of C1 may be narrowed
in some patients with SED congenita. In these cases, lami-
nectomy of C1 combined with occiput–C2 fusion is the
preferred treatment.26
Patients with SED congenita have also been found to be
at risk for basilar invagination. Symptoms include hypoto-
nia, cranial nerve dysfunction, hyperreflexia, and nystag-
mus. Treatment consists of posterior fossa decompression
and occipitocervical fusion, with prolonged external
immobilization.35
Other spinal deformities associated with SED congenita
include scoliosis and lumbar hyperlordosis.39 Scoliosis may
require bracing, although the response to bracing in patients
with SED is somewhat unpredictable. Scoliosis may be
associated with severe kyphosis. When the scoliosis exceeds
50 degrees or is associated with significant kyphosis, fusion
with standard instrumentation is effective.5,38 Because the
FIGURE 40-34  Patients with spondyloepiphyseal dysplasia have
hypoplasia of the odontoid, which may lead to posterior instability
at C1-2.
 CHAPTER 40  Skeletal Dysplasias e397

A B

C D
FIGURE 40-35  Flexion (A) and extension (B) lateral radiographs of cervical spine in a 4-year-old girl with spondyloepiphyseal dysplasia.
Odontoid hypoplasia and atlantoaxial instability are noted. C, Posterior C1-2 fusion was performed with halo immobilization.
D, Radiograph at 9 years of age shows solid fusion from the occiput to C3.

spinal canal is not narrowed by the bone dysplasia, instru-
mentation may be used.
Lumbar lordosis does not require spinal surgery, but
attention must be directed to the hips. Extension osteot-
omy of the proximal femur is occasionally performed to
address hip flexion contractures leading to increased lumbar
lordosis.
Lower Extremities
Coxa vara may be severe and may result in discontinuity of
the femoral neck (Fig. 40-36). Bassett recommended valgus
osteotomy when the neck–shaft angle is less than 100
degrees, when the Hilgenreiner–epiphyseal angle is greater
than 60 degrees, when the varus is progressive, or when an
inverted triangular fragment is present3 (Fig. 40-37). Hip
dislocation has been seen in conjunction with coxa vara and,
when present, further complicates surgical treatment. Open
reduction with femoral and acetabular osteotomies has been
performed to treat hip dislocation secondary to SED.
Genu valgum is common in SED congenita. Proximal
femoral valgus osteotomy for the treatment of coxa vara
further accentuates the distal femoral valgus. A distal
femoral varus osteotomy is performed to correct the condi-
tion. Recurrence is a frequent complication.
e398 SECTION VII  Other Orthopaedic Disorders

A B

D
FIGURE 40-36  A, Anteroposterior radiograph of pelvis in a 7-year-old girl with spondyloepiphyseal dysplasia reveals bilateral coxa vara.
B, Radiograph after bilateral valgus osteotomy. C, Three years and 8 months after surgery, left coxa vara has recurred. D, Coxa vara
remains well corrected 3 years after revision left proximal femoral osteotomy and 7 years after right proximal femoral valgus osteotomy.

Pain and Joint Problems
Premature osteoarthritis results from the epiphyseal defor-
mity (Fig. 40-38). Whether osteotomies delay the onset of
degenerative arthritis remains unknown.
An evaluation of the incidence of pain in patients with
SED found that 94% reported activity-related pain, even
though 50% had undergone previous orthopaedic surgical
procedures. Patients noted that their activity was mildly
impaired by their pain and joint mobility restrictions.11
Spondyloepiphyseal Dysplasia Tarda
SED tarda is a milder form of SED that is not clinically
apparent at birth. Most patients present in older childhood
or adolescence with complaints of hip pain. Height is
affected only minimally.
Genetics
The inheritance of SED tarda is either autosomal recessive
or X-linked recessive.1,21 The X-linked form has also been
described and mapped to the SEDL gene in the Xp22
region.4,18 SEDL codes for the protein sedlin, which is
important in endoplasmic reticulum–Golgi vesicular trans-
port.15 SED tarda is genetically distinct from SED con-
genita.25 Rare autosomal dominant forms of SED tarda have
also been reported.29,31,36 Thus SED tarda has genetic
heterogeneity.

FIGURE 40-37  Spondyloepiphyseal dysplasia in a 4-year-old girl.
Anteroposterior view of the pelvis shows irregular ossification of
the femoral heads. The left hip exhibits a severe coxa vara
deformity with elevation of the greater trochanter.
A patient with spondyloepiphyseal dysplasia
B
Clinical Features
The dysplasia is not recognized at birth but becomes appar-
ent as the growth rate of the child slows in middle child-
hood or adolescence. The presenting complaint is either
short stature or hip pain. The X-linked recessive form
affects only boys and is characterized by diminished height,
barrel chest deformity, and early hip arthrosis.13
Radiographic Findings
Radiographically, the dysplasia may be confused with Legg-
Calvé-Perthes disease. However, in SED involvement is
symmetric, whereas in bilateral Legg-Calvé-Perthes disease
CHAPTER 40  Skeletal Dysplasias e399
FIGURE 40-38  Severe degenerative arthritis in a 15-year-old
patient with spondyloepiphyseal dysplasia and dislocated hips.
FIGURE 40-39  A and B, Mild
platyspondyly and proximal femoral
epiphyseal irregularities in a 16-year-old
tarda.
involvement is discordant, with one hip more radiographi-
cally affected than the other.10,17 Coxa magna with flatten-
ing and extrusion can be seen on pelvic radiographs.
Abnormalities of other epiphyses (usually the proximal
humerus), platyspondyly with the appearance of a protrud-
ing “hump,” and narrowed disk spaces of the spine help
establish the correct diagnosis of SED tarda14 (Fig. 40-39).
Orthopaedic Considerations
Orthopaedic surgery is directed at treating the precocious
hip arthritis (Fig. 40-40). Valgus osteotomy of the proximal
femur, with acetabular augmentation when needed, has
been proposed for younger patients with SED tarda, but
e400 SECTION VII  Other Orthopaedic Disorders
FIGURE 40-40  Joint space narrowing and epiphyseal irregularities
in both hips in a 17-year-old patient with spondyloepiphyseal
dysplasia tarda.
the influence of osteotomy on the long-term outcome of
these hips has not been established. Degenerative arthritis
associated with SED tarda in adulthood is treated by total
joint arthroplasty in early adulthood. Custom components
may be necessary because of the anatomy and length of the
femur.20
Platyspondyly is present in patients with SED tarda,
and odontoid hypoplasia may lead to instability requiring
stabilization in some patients. Patients with SED tarda may
have back pain, but they rarely need spinal surgery.38
If scoliosis is present, bracing or fusion should be per-
formed, following guidelines similar to those for idiopathic
scoliosis.
References
Spondyloepiphyseal Dysplasia
1. Al-Awadi SA, Farag TI, Naguib K, et al: Spondyloepiphyseal dys-
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2. Anderson IJ, Goldberg RB, Marion RW, et al: Spondyloepiphyseal
dysplasia congenita: genetic linkage to type II collagen (COL2AI),
Am J Hum Genet 46:896, 1990.
3. Bassett GS: Orthopaedic aspects of skeletal dysplasias, Instr
Course Lect 39:381, 1990.
4. Bernard LE, Chitayat D, Weksberg R, et al: Linkage analysis of two
Canadian families segregating for X linked spondyloepiphyseal
dysplasia, J Med Genet 33:432, 1996.
5. Bethem D, Winter RB, Lutter L, et al: Disorders of the spine in
diastrophic dwarfism, J Bone Joint Surg Am 62:529, 1980.
6. Bogdanovic R, Komar P, Cvoric A, et al: Focal glomerular sclerosis
and nephrotic syndrome in spondyloepiphyseal dysplasia, Nephron
66:219, 1994.
7. Chan D, Rogers JF, Bateman JF, et al: Recurrent substitutions of
arginine 789 by cysteine in pro-alpha 1 (II) collagen chains produce
spondyloepiphyseal dysplasia congenita, J Rheumatol Suppl 43:37,
1995.
8. Chen L, Yang W, Cole WG, et al: Alternative splicing of exon 12
of the COL2A1 gene interrupts the triple helix of type-II collagen
in the Kniest form of spondyloepiphyseal dysplasia, J Orthop Res
14:712, 1996.
9. Cole WG, Hall RK, Rogers JG, et al: The clinical features of
spondyloepiphyseal dysplasia congenita resulting from the substi-
tution of glycine 997 by serine in the alpha 1(II) chain of type II
collagen, J Med Genet 30:27, 1993.
10. Crossan JF, Wynne-Davies R, Fulford GE, et al: Bilateral failure of
the capital femoral epiphysis: bilateral Perthes disease, multiple
epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphy-
seal dysplasia congenita and tarda, J Pediatr Orthop 3:297, 1983.
11. Damignani R, Young NL, Cole WG, et al: Impairment and activity
limitation associated with epiphyseal dysplasia in children, Arch
Phys Med Rehabil 85:1647, 2004.
12. De Pellegrin MP, Mackenzie WG, Harcke HT, et al: Ultrasono-
graphic evaluation of hip morphology in osteochondrodysplasias,
J Pediatr Orthop 20:588, 2000.
13. Fiedler J, Bergmann C, Brenner RE, et al: X-linked spondyloep-
iphyseal dysplasia tarda: molecular cause of a heritable disorder
associated with early degenerative joint disease, Acta Orthop Scand
74:737, 2003.
14. Fiedler J, Frances AM, Le Merrer M, et al: X-linked spondyloep-
iphyseal dysplasia tarda: molecular cause of a heritable platyspon-
dyly, Spine 28:E478, 2003.
15. Gedeon AK, Colley A, Jamieson R, et al: Identification of the
gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda,
Nat Genet 22:400, 1999.
16. Harding CO, Green CG, Perloff WH, et al: Respiratory complica-
tions in children with spondyloepiphyseal dysplasia congenita,
Pediatr Pulmonol 9:49, 1990.
17. Hesse B, Kohler G: Does it always have to be Perthes’ disease?
What is epiphyseal dysplasia? Clin Orthop Relat Res 414:219,
2003.
18. Heuertz S, Smahi A, Wilkie AO, et al: Genetic mapping of
Xp22.12-p22.31, with a refined localization for spondyloepiphy-
seal dysplasia (SEDL), Hum Genet 96:407, 1995.
19. Horton WA, Hall JG, Scott CI, et al: Growth curves for height
for diastrophic dysplasia, spondyloepiphyseal dysplasia congenita,
and pseudoachondroplasia, Am J Dis Child 136:316, 1982.
20. Huo MH, Salvati EA, Liberman JR, et al: Custom-designed
femoral prostheses in total hip arthroplasty done with cement
for severe dysplasia of the hip, J Bone Joint Surg Am 75:1497,
1993.
21. Ikegawa S: Spondyloepiphyseal dysplasia tarda: the autosomal
recessive form in two sisters, Arch Orthop Trauma Surg 113:49,
1993.
22. Ikegawa S, Iwaya T, Taniguchi K, et al: Retinal detachment in
spondyloepiphyseal dysplasia congenita, J Pediatr Orthop 13:791,
1993.
23. Le Doux MS, Naftalis RC, Aronin PA, et al: Stabilization of the
cervical spine in spondyloepiphyseal dysplasia congenita, Neuro-
surgery 28:580, 1991.
24. Lee B, Vissing H, Ramirez F, et al: Identification of the molecular
defect in a family with spondyloepiphyseal dysplasia, Science
244:978, 1989.
25. Lewkonia RM, Bech-Hansen NT: Spondyloepiphyseal dysplasia
tarda simulating juvenile arthritis: clinical and molecular genetic
observations, Clin Exp Rheumatol 10:411, 1992.
26. Miyoshi K, Nakamura K, Haga N, et al: Surgical treatment for
atlantoaxial subluxation with myelopathy in spondyloepiphyseal
dysplasia congenita, Spine 29:E488, 2004.
27. Naumoff P: Thoracic dysplasia in spondyloepiphyseal dysplasia
congenita, Am J Dis Child 131:653, 1977.
28. Nishimura G, Fukushima Y, Aihara T, et al: Previously undescribed
spondyloepiphyseal dysplasia associated with craniosynostosis,
cataracts, cleft palate, and mental retardation: report of four sibs,
Am J Med Genet 77:1, 1998.
29. Nishimura G, Saitoh Y, Okuzumi S, et al: Spondyloepiphyseal
dysplasia with accumulation of glycoprotein in the chondrocytes:
spondyloepiphyseal dysplasia, Stanescu type, Skeletal Radiol
27:188, 1998.

30. Reardon W, Hall CM, Shaw DG, et al: New autosomal dominant
form of spondyloepiphyseal dysplasia presenting with atlanto-axial
instability, Am J Med Genet 52:432, 1994.
31. Reginato AJ, Passano GM, Neumann G, et al: Familial spondylo-
epiphyseal dysplasia tarda, brachydactyly, and precocious osteoar-
thritis associated with an arginine 75→cysteine mutation in the
procollagen type II gene in a kindred of Chiloe Islanders. I. Clini-
cal, radiographic, and pathologic findings, Arthritis Rheum 37:1078,
1994.
32. Roberts W, Henson LC: Anesthesia for scoliosis: dwarfism and
congenitally absent odontoid process, AANA J 63:332, 1995.
33. Rottenberg GT, Shaw DG, Hall CM, et al: Spondyloepiphyseal
dysplasia with nephrotic syndrome (Schimke immunoosseous dys-
plasia), J Pediatr Orthop B 6:7, 1997.
34. Santava A, Zapletalova J, Michalkova K, et al: Spondyloepiphyseal
dysplasia with nephrotic syndrome (Schimke immunoosseous dys-
plasia), Am J Med Genet 49:270, 1994.
35. Sawin PD, Menezes AH: Basilar invagination in osteogenesis
imperfecta and related osteochondrodysplasias: medical and surgi-
cal management, J Neurosurg 86:950, 1997.
36. Schantz K, Andersen PE Jr, Justesen P, et al: Spondyloepiphyseal
dysplasia tarda: report of a family with autosomal dominant trans-
mission, Acta Orthop Scand 59:716, 1988.
37. Svensson O, Aaro S: Cervical instability in skeletal dysplasia:
report of 6 surgically fused cases, Acta Orthop Scand 59:66, 1988.
38. Tolo VT: Spinal deformity in short-stature syndromes, Instr Course
Lect 39:399, 1990.
39. Wynne-Davies R, Hall C: Two clinical variants of spondylo-
epiphysial dysplasia congenita, J Bone Joint Surg Br 64:435, 1982.
Multiple Epiphyseal Dysplasia
MED is a condition characterized by the following features:
a delay in the appearance of the epiphyses; irregular, sym-
metric epiphyseal formation; mild short stature; and early-
onset osteoarthritis. Fairbank first described this entity and
called it dysplasia epiphysealis multiplex.14,15 It soon became
apparent that the dysplasia had several forms. The two most
common forms are the Fairbank form, known as type I, and
a milder form, described by Ribbing,30 that is known as type
II. The reported prevalence of MED ranges from 9 per
100,0001 to 11 per 1 million index patients.40 MED is
detected with increasing frequency.
Genetics
In most patients, MED is inherited by autosomal dominant
transmission. A rare autosomal recessive form also exists.26
Genetic variability occurs among families,12 and this is
expected because variable forms of the disease exist. Six
different mutations have been described to date in patients
with MED.5,20,36 MED has been mapped to chromosome 19,
and its gene product is COMP, the same gene that is abnor-
mal in pseudoachondroplasia. Some forms of MED and
pseudoachondroplasia are therefore allelic.7,8,22 COMP is
found in the extracellular matrix of cartilage, ligament, and
tendon.21 Other families with MED have a different muta-
tion located on chromosome 1 in the gene encoding for the
α2 polypeptide chain of type IX collagen.6,28 Type IX col-
lagen is located on the surface of type II collagen fibrils and
is necessary for the long-term integrity of articular carti-
lage.13 These patients tend to have more knee involvement
with relative sparing of the hips.37 A third genetic locus has
CHAPTER 40  Skeletal Dysplasias e401
been documented in the gene that encodes matrilin-3,
another extracellular matrix protein.9 Patients with
matrilin-3 abnormalities are of normal stature but have very
small proximal femoral epiphyses and hip dysplasia that
lead to childhood-onset arthritis in the hips and knees.25 An
autosomal recessive form of MED is characterized by early
osteoarthritis, clubfeet, multilayered patellae, and brachy-
dactyly and has been mapped to the diastrophic dysplasia
sulfate transporter gene (DTDST).23,34 Although genetic
testing can be performed for these known mutations, posi-
tive identification of the abnormality is possible in less than
half of patients with MED at present.20
Pathology
The basic defect in MED is a disturbance in the develop-
ment of the epiphyseal ossification centers. Enchondral
ossification is disorganized, and epiphyseal cartilage cells are
irregular, with disordered columns and areas of degenera-
tion.17 Funnelization, diaphyseal cylindricalization, and
modeling are not affected. The articular cartilage is initially
normal but becomes secondarily misshapen during life
because of the lack of underlying osseous support. The
articular deformities are permanent, with degenerative
changes and osteoarthritis developing early in adult life,
especially in the weight-bearing joints.
Electron microscopy shows intracytoplasmic inclusions
in the chondrocytes. These inclusions are dilations of the
rough endoplasmic reticulum and resemble those seen in
pseudoachondroplasia. These findings lend further support
to the opinion that these two dysplasias are genetically
related.33
The epiphyses most commonly affected are those of the
femoral and humeral heads. The short tubular bones of the
hands and feet may also be involved. The skull, vertebrae,
and pelvis are normal.
Clinical Features
The dysplasia is not recognizable at birth. The first sign may
be a delay in walking. Often the diagnosis is not made until
early adolescence. Initial presenting complaints include
joint stiffness or contractures, pain, a limp, or a waddling
gait. As the child grows older, shorter stature becomes more
evident in some patients. However, true dwarfism is not
associated with this condition because many patients are
above the 3rd percentile for height.3
The fingers and, to a lesser extent, the toes may be short
and stubby. Flexion contractures of the elbows and knees
are common. Genu valgum or varum may develop. Pain
from degenerative arthritis may be present in adolescence
or early adulthood. Arthritic changes in the shoulder are
frequently accompanied by symptomatic stiffness.18
MED has no associated neurologic findings. Intelligence
is not affected.
Radiographic Findings
The principal finding on radiographs is a delay in the appear-
ance of the ossification centers. When the epiphyses do
appear, they are small, fragmented, mottled, and flattened
(Fig. 40-41). There are numeric indices for the normal
e402 SECTION VII  Other Orthopaedic Disorders

A B

C D

E F
FIGURE 40-41  Multiple epiphyseal dysplasia in two sisters and their 40-year-old father. The disorder is inherited as an autosomal
dominant trait. Anteroposterior (AP) (A) and frog-leg lateral (B) radiographs of both hips of a 12-year-old girl. Note the irregularity and
flattening of the capital femoral epiphyses. Involvement is bilateral. AP (C) and lateral (D) views of both hips of the 14-year-old sister
showing similar changes. AP (E) and lateral (F) radiographs of the father’s hips. Note the irregularity of the femoral heads and marked
degenerative arthritis in both hips.

height of the epiphyses, particularly at the distal femur.
Measurement of epiphyseal height and carpal height, both
of which are decreased in MED, may assist in reaching an
early diagnosis before degenerative arthritis begins.19,31,38
The proximal femur is most often affected. The findings
on hip radiographs may be easily confused with those of
bilateral Legg-Calvé-Perthes disease. Clues to the diagnosis
include the presence of symmetric involvement in MED,
in contrast to the metachronous findings in Legg-Calvé-
Perthes disease2 (Fig. 40-42). In Legg-Calvé-Perthes disease,
usually one hip is involved before the other, so that each
hip is in a different stage of the disease. This is not the case
in MED.10 In addition, acetabular changes are seen more
frequently in MED. Metaphyseal cysts are seen in Legg-
Calvé-Perthes disease, but not in MED.2 When bilateral
Legg-Calvé-Perthes disease is suspected, radiographic
examination of other joints should be performed. In MED,
epiphyseal irregularities are visible in other locations, such
as the shoulders and knees.
Correctly diagnosing MED is further hampered by the
frequent occurrence of avascular necrosis (AVN) in the hips
of patients with MED.39 Because AVN may be present in
MED, the distinction from bilateral Legg-Calvé-Perthes
disease cannot be made by bone scan or MRI, given that
 CHAPTER 40  Skeletal Dysplasias e403

A
FIGURE 40-42  Anteroposterior (A) and frog-leg (B) radiographs of a 7-year-old girl with multiple epiphyseal dysplasia.

A B
FIGURE 40-43  A, Lateral radiograph of the knee of a 5-year-old girl with multiple epiphyseal dysplasia. Ossification of the patella is
irregular. B, By age 8 years, the patella appears to be double layered.

these imaging studies demonstrate avascularity and subse-
quent changes for both diseases.24 Radiographic changes in
patients with MED and AVN include subchondral fractures,
increased radiodensity of the ossific nucleus, resorption of
ossified cartilage, reossification, and asymmetric images.24
Coxa vara may occur but is not necessarily bilateral. The
femoral necks appear short. Other angular deformities, such
as genu varum or valgum, may be present on plain radio-
graphs. Lateral radiographs of the knee may demonstrate a
peculiar finding seen in MED, the double-layered patella
(Fig. 40-43). When this feature is present, it is characteris-
tic for MED.11,16,32 On AP radiographs the femoral condyles
appear squared off and flat, and the intercondylar notch is
shallow27 (Fig. 40-44).
The metacarpals and phalanges usually are short. Their
epiphyses are irregular.
MED is distinguished from SED by the absence of severe
vertebral changes. Mild end-plate irregularities may be
e404 SECTION VII  Other Orthopaedic Disorders
FIGURE 40-44  Anteroposterior radiograph of the knees in a child
with multiple epiphyseal dysplasia shows irregular articular
surfaces and flat femoral condyles.
A B
FIGURE 40-45  Anteroposterior (A) and frog-leg (B) radiographs of a 9-year-old
girl with multiple epiphyseal dysplasia. Both femoral heads are irregular and
mushroom shaped. C, Arthrogram of the left hip. Articular irregularity can be
C
seen.
present.4 Radiographic findings in hypothyroidism may
resemble those in MED, and the distinction is made by
thyroid function studies.
Orthopaedic Considerations
Orthopaedic treatment is rarely necessary in early child-
hood. Once the diagnosis is established, maintenance of
range of motion is initiated. The patient and parents should
be cautioned regarding weight gain.
Despite findings resembling those of Legg-Calvé-Perthes
disease, no evidence supports the use of containment
orthoses or prophylactic containment surgery in MED.
Arthrography of the hip demonstrates the flat, mushroom-
shaped femoral head (Fig. 40-45). If hinge abduction is
present on arthrography, valgus proximal femoral osteot-
omy may improve congruency and therefore relieve pain.
Shelf acetabular augmentation may be beneficial in some
patients with MED to improve coverage of the misshapen
femoral head.3 When MED is complicated by AVN, the
prognosis for degenerative arthritis worsens. Nonetheless,
varus osteotomy is contraindicated because of preexisting
coxa vara.3

A B
FIGURE 40-46  A, Anteroposterior (AP) lower extremity radiograph of a 9-year-old boy with multiple epiphyseal dysplasia. B, AP lower
extremity radiograph after bilateral distal femoral varus osteotomies. C, Two and a half years after surgery, valgus has recurred.
D, Correction was achieved with hemiepiphyseal stapling.
Osteotomies may be helpful in realigning the lower
extremities when angular deformities exist, particularly at
the knee. Growth manipulation by hemiepiphysiodesis or
stapling may provide correction in some cases (Fig. 40-46).
For optimal surgical correction, the level of the deformity
must be ascertained before surgery.3 Valgus osteotomy of
the proximal femur is the treatment for coxa vara, but
recurrence is common.
Degenerative arthritis in children is treated symptomati-
cally.3,29 Osteoarthritis is present by 30 years of age in those
hips that are incongruent with large, flat heads and poor
acetabular coverage.35 If the femoral head is well formed at
maturity, the onset of arthritis is delayed. Arthritis seems
to develop at similar ages in affected family members.35
Total joint replacement in early adulthood is possible.
References
Multiple Epiphyseal Dysplasia
1. Andersen PE Jr, Hauge M: Congenital generalised bone dysplasias:
a clinical, radiological, and epidemiological survey, J Med Genet
26:37, 1989.
2. Andersen PE Jr, Schantz K, Bollerslev J, et al: Bilateral femoral
head dysplasia and osteochondritis: multiple epiphyseal dysplasia
tarda, spondylo-epiphyseal dysplasia tarda, and bilateral Legg-
Perthes disease, Acta Radiol 29:705, 1988.
3. Bassett GS: Lower-extremity abnormalities in dwarfing conditions,
Instr Course Lect 39:389, 1990.
4. Bassett GS: Orthopaedic aspects of skeletal dysplasias, Instr
Course Lect 39:381, 1990.
5. Briggs MD, Chapman KL: Pseudoachondroplasia and multiple
epiphyseal dysplasia: mutation review, molecular interactions, and
genotype to phenotype correlations, Hum Mutat 19:465, 2002.
CHAPTER 40  Skeletal Dysplasias e405
C D
6. Briggs MD, Choi H, Warman ML, et al: Genetic mapping of a
locus for multiple epiphyseal dysplasia (EDM2) to a region of
chromosome 1 containing a type IX collagen gene, Am J Hum
Genet 55:678, 1994.
7. Briggs MD, Hoffman SM, King LM, et al: Pseudoachondroplasia
and multiple epiphyseal dysplasia due to mutations in the cartilage
oligomeric matrix protein gene, Nat Genet 10:330, 1995.
8. Briggs MD, Mortier GR, Cole WG, et al: Diverse mutations in
the gene for cartilage oligomeric matrix protein in the
pseudoachondroplasia–multiple epiphyseal dysplasia disease spec-
trum, Am J Hum Genet 62:311, 1998.
9. Chapman KL, Mortier GR, Chapman K, et al: Mutations in the
region encoding the von Willebrand factor A domain of matrilin-3
are associated with multiple epiphyseal dysplasia, Nat Genet
28:393, 2001.
10. Crossan JF, Wynne-Davies R, Fulford GE, et al: Bilateral failure of
the capital femoral epiphysis: bilateral Perthes disease, multiple
epiphyseal dysplasia, pseudoachondroplasia, and spondyloepiphy-
seal dysplasia congenita and tarda, J Pediatr Orthop 3:297, 1983.
11. Dahners LE, Francisco WD, Halleran WJ, et al: Findings at arthrot-
omy in a case of double layered patellae associated with multiple
epiphyseal dysplasia, J Pediatr Orthop 2:67, 1982.
12. Deere M, Blanton SH, Scott CI, et al: Genetic heterogeneity in
multiple epiphyseal dysplasia, Am J Hum Genet 56:698, 1995.
13. Dietz FR, Mathews KD: Update on the genetic bases of disorders
with orthopaedic manifestations, J Bone Joint Surg Am 78:1583,
1996.
14. Fairbank HAT: Dysplasia epiphysialis multiplex, Proc R Soc Med
39:315, 1946.
15. Fairbank HAT: Dysplasia epiphysialis multiplex, Br J Surg 34:225,
1947.
16. Hodkinson HM: Double patellae in multiple epiphyseal dysplasia,
J Bone Joint Surg Br 44:569, 1962.
17. Hunt DD, Ponseti IV, Pedrini-Mille A, et al: Multiple epiphyseal
dysplasia in two siblings: histological and biochemical analysis of
e406 SECTION VII  Other Orthopaedic Disorders
epiphyseal cartilage plate in one, J Bone Joint Surg Am 49:1611,
1967.
18. Ingram RR: The shoulder in multiple epiphyseal dysplasia, J Bone
Joint Surg Br 73:277, 1991.
19. Ingram RR: Early diagnosis of multiple epiphyseal dysplasia,
J Pediatr Orthop 12:241, 1992.
20. Jakkula E, Makitie O, Czarny-Ratajczak M, et al: Mutations in the
known genes are not the major cause of MED; distinctive pheno-
typic entities among patients with no identified mutations, Eur J
Hum Genet 13:292, 2005.
21. Kennedy J, Jackson GC, Barker FS, et al: Novel and recurrent
mutations in the C-terminal domain of COMP cluster in two
distinct regions and result in a spectrum of phenotypes within the
pseudoachondroplasia–multiple epiphyseal dysplasia disease
group, Hum Mutat 25:593, 2005.
22. Knowlton RG, Cekleniak JA, Cohn DH, et al: High-resolution
genetic and physical mapping of multiple epiphyseal dysplasia and
pseudoachondroplasia mutations at chromosome 19p13.1-p12,
Genomics 28:513, 1995.
23. Lachman RS, Krakow D, Cohn DH, et al: MED, COMP, multi-
layered and NEIN: an overview of multiple epiphyseal dysplasia,
Pediatr Radiol 35:116, 2005.
24. Mackenzie WG, Bassett GS, Mandell GA, et al: Avascular necrosis
of the hip in multiple epiphyseal dysplasia, J Pediatr Orthop 9:666,
1989.
25. Makitie O, Mortier GR, Czarny-Ratajczak M, et al: Clinical and
radiographic findings in multiple epiphyseal dysplasia caused by
MATN3 mutations: description of 12 patients, Am J Med Genet
A 125:278, 2004.
26. McKusick VA: Mendelian inheritance in man: catalogue of autoso-
mal dominant, autosomal recessive, and X-linked phenotypes, Bal-
timore, 1992, Johns Hopkins University Press.
27. Miura H, Noguchi Y, Mitsuyasu H, et al: Clinical features of mul-
tiple epiphyseal dysplasia expressed in the knee, Clin Orthop Relat
Res 380:184, 2000.
28. Muragaki Y, Mariman EC, van Beersum SE, et al: A mutation in
the gene encoding the alpha 2 chain of the fibril-associated collagen
IX, COL9A2, causes multiple epiphyseal dysplasia (EDM2), Nat
Genet 12:103, 1996.
29. Patrone NA, Kredich DW: Arthritis in children with multiple
epiphyseal dysplasia, J Rheumatol 12:145, 1985.
30. Ribbing S: Studien uber hereditare multiple Epiphysenstorungen,
Acta Radiol (Stockholm) Suppl 34, 1937.
31. Schlesinger AE, Poznanski AK, Pudlowski RM, et al: Distal femoral
epiphysis: normal standards for thickness and application to bone
dysplasias, Radiology 159:515, 1986.
32. Sheffield EG: Double-layered patella in multiple epiphyseal dys-
plasia: a valuable clue in the diagnosis, J Pediatr Orthop 18:123,
1998.
33. Stanescu R, Stanescu V, Muriel MP, et al: Multiple epiphyseal
dysplasia, Fairbank type: morphologic and biochemical study of
cartilage, Am J Med Genet 45:501, 1993.
34. Superti-Furga A, Neumann L, Riebel T, et al: Recessively inherited
multiple epiphyseal dysplasia with normal stature, club foot, and
double layered patella caused by a DTDST mutation, J Med Genet
36:621, 1999.
35. Treble NJ, Jensen FO, Bankier A, et al: Development of the hip
in multiple epiphyseal dysplasia: natural history and susceptibility
to premature osteoarthritis, J Bone Joint Surg Br 72:1061, 1990.
36. Unger S, Hecht JT: Pseudoachondroplasia and multiple epiphyseal
dysplasia: new etiologic developments, Am J Med Genet 106:244,
2001.
37. Unger SL, Briggs MD, Holden P, et al: Multiple epiphyseal dyspla-
sia: radiographic abnormalities correlated with genotype, Pediatr
Radiol 31:10, 2001.
38. van Mourik J, Weerdenburg H: Radiographic anthropometry in
patients with multiple epiphyseal dysplasia, AJR Am J Roentgenol
169:1105, 1997.
39. Wenger DR, Ezaki M: Bilateral femoral head collapse in an adoles-
cent with brachydactyly (multiple epiphyseal dysplasia tarda type
1c), J Pediatr Orthop 1:267, 1981.
40. Wynne-Davies R, Hall CM, Apley AG: Atlas of skeletal dysplasias,
Edinburgh, 1985, Churchill Livingstone.
Diastrophic Dysplasia
(Diastrophic Dwarfism)
In 1960 Lamy and Maroteaux distinguished a very rare form
of micromelic dwarfism from that of achondroplasia.20 They
named it nanisme diastrophique and derived the word dia-
strophic from the Greek word meaning “crooked” or
“twisted.” In this condition, severe short stature is associ-
ated with rigid clubfeet, scoliosis, and “hitchhiker’s thumb.”
Genetics
Diastrophic dysplasia is inherited as an autosomal recessive
trait. The responsible gene, DTDST, is located on the distal
part of the long arm of chromosome 5.12 This gene encodes
a unique sulfate transporter. Impaired function of the gene’s
product leads to undersulfation of proteoglycans in cartilage
matrix,12,38 a condition that impairs the growth response of
these cells to FGF and thus stunts enchondral growth.36
Lack of sulfation of glycosaminoglycans (GAGs) in articular
cartilage renders the cartilage vulnerable to early degenera-
tion. Abnormalities are seen in type IX collagen, which is
responsible for establishing the lattice of type II collagen.7,8
Mutations at the same locus are responsible for lethal forms
of dwarfism such as achondrogenesis.38
Pathology
Abnormal cross-linking of cartilage has been seen, leading
to mechanically weaker cartilage.1 Light microscopy shows
atypical chondrocytes, with extreme variation in size and
shape, and premature cytoplasmic degeneration. The chon-
drocytes are larger and clearer than normal, with more
rounded nuclei.39 Prominent, densely staining fibrotic foci
are present throughout the cartilage. The collagen in these
foci is remarkably abnormal.37 The cartilage matrix demon-
strates an increase in fibrous tissue as well. Abnormalities
are seen in the chondrocytes of the entire skeleton including
the trachea.39
Clinical Features
The condition is easily diagnosed at birth. The affected
newborn is severely dwarfed, with very short limbs and
marked bilateral clubfeet (Fig. 40-47). During the first 2
weeks of life, swelling of the external ears develops and
subsequently calcifies and ossifies, to form the “cauliflower
ear” deformity characteristic of diastrophic dysplasia
(Fig. 40-48).
The face appears cherubic because of the fullness of
the cheeks around the mouth. The nasal bridge is narrow,
and the nostrils are flared. A cleft palate is present in 56%
of patients.18,34 Tracheomalacia and bronchomalacia are
common in infants and lead to increased mortality in the
neonatal period.24

FIGURE 40-47  An infant with diastrophic dysplasia. The legs and
arms are very short, and the clubfeet bilaterally are obvious.
FIGURE 40-48  Swollen external ear in an infant with diastrophic
dysplasia.
The hands are short and broad. The thumb deformity,
referred to as hitchhiker’s thumb, is a distinctive feature of
the dysplasia (Fig. 40-49). It is caused by excessive shorten-
ing of the first metacarpal (which is triangular), leading to
radial subluxation of the metacarpophalangeal joint of the
thumb (Fig. 40-50). The thumb is nearly perpendicular to
the index finger.
Equinovarus of the foot is another distinctive feature of
the dysplasia. In a study by Ryoppy and associates, only 7%
of 208 feet in children with diastrophic dysplasia were
normal.35 The equinovarus of diastrophic dysplasia differs
from the deformity present in idiopathic clubfoot. In dia-
strophic dysplasia, the first metatarsal is short and triangular
(like the first metacarpal in the hand). The forefoot is medi-
ally deviated, and extreme hallux varus is present. The
hindfoot and ankle are in severe equinus (Figs. 40-51 and
40-52). The Achilles tendon consists of a band of fanlike
fibers and is not a distinct cord. The foot deformity is rigid
and resistant to correction.
The joints may be hyperextensible because of excessive
ligamentous laxity, or they may have limited range of
CHAPTER 40  Skeletal Dysplasias e407
FIGURE 40-49  ”Hitchhiker’s thumb” is characteristic of diastrophic
dysplasia.
FIGURE 40-50  ”Hitchhiker’s thumb” results from severe
shortening of the first metacarpal, which appears triangular.
motion. Most patients have the stiff joint variant. Flexion
contractures of the hips, knees, and elbows are present at
birth. The contractures may be progressive, leading to
impairment in standing and walking. Hip dislocation may
be present in affected infants. Genu valgum and patellar
dislocation can develop at the knee. Radial head dislocation
is commonly seen.
The spine appears normal at birth, but as the child
becomes ambulatory, scoliosis and kyphosis develop (Fig.
40-53). Spinal deformity is rigid and progressive, especially
in patients who have the onset of scoliosis in early
childhood.28
Cervical kyphosis is present in some cases. No abnormal-
ity of the odontoid process occurs in diastrophic dysplasia,
e408 SECTION VII  Other Orthopaedic Disorders
but the disorder has a high rate of association with hypo-
plasia of the cervical vertebral bodies. Spina bifida occulta
of the upper cervical spine is present (Fig. 40-54). Myelopa-
thy can result from spinal cord compression in rare instances.
Thoracolumbar kyphosis is present in almost all patients.
Lumbar lordosis is markedly increased and is linked to
flexion contractures of the hip. Spinal stenosis can occur
but is less common than in achondroplasia.
Stature is markedly reduced, with adult height reaching
80 to 140 cm (2 feet 7 inches to 4 feet 7 inches). The limbs
are excessively short compared with the trunk.
Motor milestones are delayed. Patients who walk achieve
this skill at an average of 24 months of age.5 Intelligence is
normal.
Radiographic Findings
Radiographic findings associated with diastrophic dysplasia
include a short, broad appearance of long bones with flared
metaphyses. The radiographic appearance of the epiphyses
FIGURE 40-51  Equinovarus deformity of the feet in diastrophic
dysplasia. The great toe deformity is similar to hitchhiker’s thumb.
A B
FIGURE 40-52  A and B, Radiographs of clubfeet in a child with diastrophic dysplasia. The first metatarsal is characteristically short.
is delayed, and the distal femoral epiphyses are not apparent
at birth. Development of the proximal femoral ossific nuclei
is distinctly delayed,42 and the proximal femoral metaphysis
has a saucerlike indentation2 (Fig. 40-55). When the epiph-
ysis does ossify, it is flattened and irregular in shape. Coxa
vara is common, and hip dislocation is present in approxi-
mately 25% of patients.43 MRI shows that the proximal
femoral epiphyses are absent or flattened in young patients;
when visible, signal changes may resemble AVN.29
Valgus angulation is frequently present at the knee23 (Fig.
40-56). There is relative shortening of the fibula compared
with the tibia.2 MRI studies of the knee in patients with
diastrophic dysplasia reveal anterior cruciate ligament defi-
ciency, hypoplasia of the posterior cruciate ligament, patel-
lar fragmentation, and changes in the articular cartilage.22
The first metacarpal and first metatarsal are triangular,
leading to the hitchhiker’s thumb in the upper extremity.
Symphalangism of the proximal interphalangeal joints of the
hand is present.
Accessory centers of ossification of the manubrium are
seen in young infants with diastrophic dysplasia. These
centers give the appearance of a double-layered manubrium,
which is specific to this dysplasia.6 Eventually, the accessory
centers coalesce with the manubrium, which remains abnor-
mally shaped.32
Spinal radiographs show characteristic findings.4,16,41
Cervical kyphosis of varying severity is noted, with hypo-
plasia of the third, fourth, and fifth cervical vertebral
bodies.9 In severe cases, the odontoid may come to lie in a
position parallel to the foramen magnum (Fig. 40-57). Spina
bifida of the cervical spine is common. MRI of the cervical
spine in 90 individuals with diastrophic dysplasia revealed
a wide foramen magnum (in contradistinction to achondro-
plasia), but the transverse diameter of the spinal canal was
narrowed. The stenosis was more pronounced with advanc-
ing age. Disks are narrowed and black on T2-weighted
images.30
In the lumbar spine, there may be mild wedging of
the vertebral bodies at the thoracolumbar junction. The

FIGURE 40-53  Rigid scoliosis in an 8-year-old girl with diastrophic
dysplasia. She also has bilateral hip dislocations.
FIGURE 40-54  Spina bifida occulta of the cervical spine is a
feature of diastrophic dysplasia.
interpedicular distance may increase, remain the same, or
decrease from the upper to the lower lumbar spine.4 Scolio-
sis may be present, and segmentation defects resembling
congenital scoliosis are associated with diastrophic dyspla-
sia.41 The MRI appearance of the lumbosacral spine is
similar to that of the cervical spine, in that the spinal canal
is decreased in diameter and disks are narrowed, but disk
protrusion is absent.31
CHAPTER 40  Skeletal Dysplasias e409
FIGURE 40-55  Ossification of the femoral heads is delayed in this
23-month-old girl with diastrophic dysplasia.
FIGURE 40-56  Hip dislocations and genu valgum in diastrophic
dysplasia. The metaphyses are broad and flared.
Diagnosis
Prenatal diagnosis is possible with ultrasonography, which
shows the short limbs and hitchhiker’s thumbs.10,11,17 DNA
analysis may provide a reliable means of prenatal diagnosis
during the first trimester of pregnancy.13
In infants, one should rule out dysplasias with short-
limbed dwarfism, such as achondroplasia, chondrodysplasia
punctata (Conradi disease), and SED congenita. Arthrogry-
posis may be mistaken for diastrophic dysplasia because of
the multiple joint contractures and dislocations. The diag-
nosis of diastrophic dysplasia is most easily made by the
presence of hitchhiker’s thumbs and cauliflower ears.
e410 SECTION VII  Other Orthopaedic Disorders
A
B
FIGURE 40-57  A and B, Cervical kyphosis in diastrophic dysplasia.
Orthopaedic Considerations
The orthopaedic management of diastrophic dysplasia is
exceptionally difficult. Deformities are rigid and likely to
recur after surgery, yet nearly all young patients with dia-
strophic dysplasia are able to walk.
Foot
Equinovarus of the foot requires correction through surgery.
It is best to perform soft tissue release when the child is
about to learn to walk, which usually is at or slightly older
than 1 year of age. The deformity may be very resistant
even to aggressive release. Postoperative bracing with ankle–
foot orthoses is recommended to delay recurrence. Recur-
rent deformity requires repeat surgery, which is even less
FIGURE 40-58  Clinical appearance of the feet in diastrophic
dysplasia after surgery. Recurrent deformity is very difficult to
treat.
FIGURE 40-59  Femoral head deformity and hip dislocation in
diastrophic dysplasia.
likely to achieve and maintain a plantigrade foot (Fig.
40-58). Talectomy and talar decancellation have been neces-
sary in this patient population.
Hip
Hip dislocation is common in diastrophic dysplasia (Fig.
40-59). However, femoral head deformity and joint con-
tractures make reduction of the dislocated hip challenging.
The dislocations are teratologic and therefore do not
respond to closed forms of treatment. Open reduction has
been performed in some hips, but some hips may be “so
resistant that sometimes it is good judgment to leave them
dislocated.”40 Lack of containment and incongruity lead to
premature osteoarthritis. Because the irregularity of the
femoral head is inherent to the dysplasia, surgical treatment
in early childhood does not prevent degenerative changes.
Joint contractures may require osteotomy to improve gait,
and valgus extension proximal femoral osteotomy is helpful

for some patients. Hip arthroplasty can be beneficial in
young adults.15
Genu valgum also is common in patients with diastrophic
dysplasia, but it does not require corrective osteotomy in
most cases.2 Patellofemoral dislocation occurs because of
patella infra and genu valgum. Knee flexion contractures
require surgical soft tissue release, which should be com-
bined with simultaneous release of the hip flexion contrac-
tures. Bony abnormalities at the knee and hip joints are
inevitable in diastrophic dysplasia. In fact, MRI reveals
degenerative changes in the articular cartilage beginning as
early as 6 years of age.22 Thus although soft tissue release
may improve soft tissue contractures, skeletal malalignment
and intraarticular disease can prevent achieving full correc-
tion of the joint contractures. Extension osteotomy may be
necessary. Recurrence is very common. Severe osteoarthritis
can be improved by total joint arthroplasty.14
Spine
Spinal deformity associated with diastrophic dysplasia is
universal.
Kyphosis
Cervical kyphosis is extremely common in infants with
diastrophic dysplasia and commonly resolves spontaneously
in young patients.4,26,41 Progression of cervical deformity is
seen most frequently in patients with greater than 60
degrees of kyphosis who have round or posteriorly displaced
apical vertebrae.26 When spontaneous resolution of kyphosis
does occur, it does so by 5 years of age.24 Severe, progressive
kyphosis necessitates spinal fusion. Anterior fusion with
fibular strut grafting and posterior fusion with halo immo-
bilization have met with success.16 Deficiencies of the pos-
terior elements of the cervical spine make posterior spinal
fusion more difficult. Failure to stabilize severe kyphosis has
led to quadriplegia and death.3,19 Atlantoaxial instability has
also been described in diastrophic dysplasia33 (Fig. 40-60).
A B
FIGURE 40-60  A and B, Atlantoaxial instability may occur in diastrophic dysplasia. Posterior spinal fusion was performed in this child.
CHAPTER 40  Skeletal Dysplasias e411
Any preoperative evaluation of a young child with dia-
strophic dysplasia (e.g., before clubfoot surgery) must
include radiographic documentation of normal cervical
alignment. Failure to do so could lead to devastating neuro-
logic sequelae or even death.
Scoliosis
Scoliosis is particularly problematic in the diastrophic
dwarfism population. In a study of 101 diastrophic patients
in Finland (where the incidence of diastrophic dysplasia is
highest), scoliosis was present in 49% of female and 22% of
male patients.42 Later reports have put the incidence much
higher, at 70% to 88% of patients. Curves may be apparent
as early as 6 months of age,16 but more commonly become
evident at approximately 5 years of age. The rate of progres-
sion varies considerably in reported series, from universal16
to occasional35 (Fig. 40-61). Although adults with dia-
strophic dysplasia have decreased pulmonary function, the
amount of spinal deformity has been shown to correlate
inversely with lung volume parameters.25
Two types of curves have been identified.41 The first type
resembles idiopathic scoliosis and accordingly responds to
bracing and surgery. Bethem and associates were successful
in treating patients with milder curves with Milwaukee
braces.4 The second type of curve is short and sharp and is
associated with kyphosis. Most frequently, the deformity is
a double thoracic curve with true kyphosis at the junction
between the two curves.21 Bracing has been used to treat
this type as well, but with little success. Early surgery may
be necessary, even as early as 2 to 3 years of age if the curves
are severe.41 Delaying surgery to allow for further trunk
growth at the expense of worsening deformity leads only to
stiffer deformities at the time of surgery and greater diffi-
culty in operative treatment. Combined anterior and pos-
terior spinal fusion has been recommended as the preferred
treatment (Fig. 40-62). Spinal cord monitoring should be
performed because neurologic problems have been reported
e412 SECTION VII  Other Orthopaedic Disorders

A B C
FIGURE 40-61  A to C, Progression of kyphoscoliosis from 3 to 13 years of age in a patient with diastrophic dysplasia.

A B C
FIGURE 40-62  Anteroposterior (A) and lateral (B) radiographs of a 3-year-old girl with kyphoscoliosis secondary to diastrophic dysplasia.
C, Lateral radiograph after spinal fusion with anterior fusion with anterior rib strut graft.

secondary to surgical correction.41 Instrumentation has been
used safely in some patients with diastrophic dysplasia41
(Fig. 40-63), but those patients with significant spinal ste-
nosis may not tolerate instrumentation within the spinal
canal, and caution should be used in preoperative
assessment.
Lumbar hyperlordosis is common in diastrophic dyspla-
sia; however, it usually is not progressive, and surgical
correction is not indicated.16 Spinal stenosis may require
lumbar decompression similar to that described for achon-
droplasia (Fig. 40-64).
Prognosis
Many adults with diastrophic dysplasia become nonambula-
tory. Loss of ambulation usually results from loss of spine,
 CHAPTER 40  Skeletal Dysplasias e413

A B C
FIGURE 40-63  A, Radiograph of a 9-year-old child with scoliosis secondary to diastrophic dysplasia. B and C, Spinal fusion was performed
using instrumentation.

A B
FIGURE 40-64  Anteroposterior radiograph (A) and magnetic resonance image (MRI) (B) of a 4-year-old boy with diastrophic dysplasia
and symptoms of spinal stenosis. There is interpedicular narrowing, and MRI shows disk bulging and stenosis.
e414 SECTION VII  Other Orthopaedic Disorders
hip, knee, and foot mobility. Spinal cord compression, as
evidenced by abnormal SSEPs, also may contribute to func-
tional deterioration in rare instances.27
References
Diastrophic Dysplasia (Diastrophic Dwarfism)
1. Bailey AJ, Sims TJ, Stanescu V, et al: Abnormal collagen cross-
linking in the cartilage of a diastrophic dysplasia patient, Br J
Rheumatol 34:512, 1995.
2. Bassett GS: Lower-extremity abnormalities in dwarfing conditions,
Instr Course Lect 39:389, 1990.
3. Bethem D: Os odontoideum in chondrodystrophia calcificans con-
genita: a case report, J Bone Joint Surg Am 64:1385, 1982.
4. Bethem D, Winter RB, Lutter L, et al: Disorders of the spine in
diastrophic dwarfism, J Bone Joint Surg Am 62:529, 1980.
5. Crockett MM, Carten MF, Hurko O, et al: Motor milestones in
children with diastrophic dysplasia, J Pediatr Orthop 20:437, 2000.
6. Currarino G: Double-layered manubrium sterni in young children
with diastrophic dysplasia, Pediatr Radiol 30:404, 2000.
7. Diab M, Wu JJ, Shapiro F, et al: Abnormality of type IX collagen
in a patient with diastrophic dysplasia, Am J Med Genet 49:402,
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8. Dietz FR, Mathews KD: Update on the genetic bases of disorders
with orthopaedic manifestations, J Bone Joint Surg Am 78:1583,
1996.
9. Forese LL, Berdon WE, Harcke HT, et al: Severe mid-cervical
kyphosis with cord compression in Larsen’s syndrome and dia-
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10. Gembruch U, Niesen M, Kehrberg H, et al: Diastrophic dysplasia:
a specific prenatal diagnosis by ultrasound, Prenat Diagn 8:539,
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11. Gollop TR, Eigier A: Prenatal ultrasound diagnosis of diastrophic
dysplasia at 16 weeks, Am J Med Genet 27:321, 1987.
12. Hastbacka J, Kaitila I, Sistonen P, et al: Diastrophic dysplasia gene
maps to the distal long arm of chromosome 5, Proc Natl Acad Sci
U S A 87:8056, 1990.
13. Hastbacka J, Salonen R, et al: Prenatal diagnosis of diastrophic
dysplasia with polymorphic DNA markers, J Med Genet 30:265,
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14. Helenius I, Remes V, Lohman M, et al: Total knee arthroplasty in
patients with diastrophic dysplasia, J Bone Joint Surg Am 85:2097,
2003.
15. Helenius I, Remes V, Tallroth K, et al: Total hip arthroplasty in
diastrophic dysplasia, J Bone Joint Surg Am 85:441, 2003.
16. Herring JA: The spinal disorders in diastrophic dwarfism, J Bone
Joint Surg Am 60:177, 1978.
17. Kaitila I, Ammala P, Karjalainen O, et al: Early prenatal detection
of diastrophic dysplasia, Prenat Diagn 3:237, 1983.
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diastrophic dysplasia: a cephalometric study, Am J Med Genet
72:266, 1997.
19. Kash IJ, Sane SM, Samaha FJ, et al: Cervical cord compression in
diastrophic dwarfism, J Pediatr 84:862, 1974.
20. Lamy M, Maroteaux P: Le nanisme diastrophique, Presse Med
52:1977, 1960.
21. Matsuyama Y, Winter RB, Lonstein JE, et al: The spine in dia-
strophic dysplasia: the surgical arthrodesis of thoracic and lumbar
deformities in 21 patients, Spine 24:2325, 1999.
22. Peltonen J, Remes V, Tervahartiala P: Early degeneration of the
knee in diastrophic dysplasia: an MRI study, J Pediatr Orthop
23:722, 2003.
23. Peltonen J, Vaara P, Marttinen E, et al: The knee joint in diastrophic
dysplasia: a clinical and radiological study, J Bone Joint Surg Br
81:625, 1999.
24. Poussa M, Merikanto J, Ryoppy S, et al: The spine in diastrophic
dysplasia, Spine 16:881, 1991.
25. Remes V, Helenius I, Peltonen J, et al: Lung function in diastrophic
dysplasia, Pediatr Pulmonol 33:277, 2002.
26. Remes V, Marttinen E, Poussa M, et al: Cervical kyphosis in dia-
strophic dysplasia, Spine 24:1990, 1999.
27. Remes V, Poussa M, Lönnqvist T, et al: Walking ability in patients
with diastrophic dysplasia: a clinical, electroneurophysiological,
treadmill, and MRI analysis, J Pediatr Orthop 24:546, 2004.
28. Remes V, Poussa M, Peltonen J, et al: Scoliosis in patients with
diastrophic dysplasia: a new classification, Spine 26:1689, 2001.
29. Remes V, Tervahartiala P, Helenius I, et al: Magnetic resonance
imaging analysis of hip joint development in patients with dia-
strophic dysplasia, J Pediatr Orthop 22:212, 2002.
30. Remes V, Tervahartiala P, Poussa M, et al: Cervical spine in dia-
strophic dysplasia: an MRI analysis, J Pediatr Orthop 20:48, 2000.
31. Remes V, Tervahartiala P, Poussa M, et al: Thoracic and lumbar
spine in diastrophic dysplasia: a clinical and magnetic resonance
imaging analysis, Spine 26:187, 2001.
32. Remes VM, Helenius IJ, Marttinen EJ, et al: Manubrium sterni in
patients with diastrophic dysplasia: radiological analysis of 50
patients, Pediatr Radiol 31:555, 2001.
33. Richards BS: Atlanto-axial instability in diastrophic dysplasia: a
case report, J Bone Joint Surg Am 73:614, 1991.
34. Rintala A, Marttinen E, Rantala SL, et al: Cleft palate in dia-
strophic dysplasia: morphology, results of treatment and complica-
tions, Scand J Plast Reconstr Surg 20:45, 1986.
35. Ryoppy S, Poussa M, Merikanto J, et al: Foot deformities in dia-
strophic dysplasia: an analysis of 102 patients, J Bone Joint Surg Br
74:441, 1992.
36. Satoh H, Susaki M, Shukunami C, et al: Functional analysis of
diastrophic dysplasia sulfate transporter: its involvement in growth
regulation of chondrocytes mediated by sulfated proteoglycans,
J Biol Chem 273:12307, 1998.
37. Shapiro F: Light and electron microscopic abnormalities in dia-
strophic dysplasia growth cartilage, Calcif Tissue Int 51:324, 1992.
38. Superti-Furga A, Rossi A, Steinmann B, et al: A chondrodysplasia
family produced by mutations in the diastrophic dysplasia sulfate
transporter gene: genotype/phenotype correlations, Am J Med
Genet 63:144, 1996.
39. Taber P, Freedman S, Lackey DA, et al: Diastrophic dwarfism,
Progr Pediatr Radiol 4:152, 1973.
40. Tachdjian MO: Pediatric orthopaedics, ed 2, Philadelphia, 1990,
Saunders.
41. Tolo VT: Spinal deformity in short-stature syndromes, Instr Course
Lect 39:399, 1990.
42. Vaara P, Peltonen J, Poussa M, et al: Development of the hip in
diastrophic dysplasia, J Bone Joint Surg Br 80:315, 1998.
43. Walker BA, Scott CI, Hall JG, et al: Diastrophic dwarfism,
Medicine (Baltimore) 51:41, 1972.
Kniest Dysplasia (Pseudometatrophic
Dysplasia)
Kniest dysplasia is a rare, severe form of chondrodysplasia
characterized by dwarfism, progressive joint stiffness
and contractures, retinal detachment, cleft palate, midface
hypoplasia, and hearing loss.9,15 Kyphoscoliosis is a hallmark
of the disease.8,9 The prenatal diagnosis of Kniest dysplasia
has been described.1
Genetics
Kniest dysplasia is an autosomal dominant disorder. The
dysplasia is the result of mutations of COL2A1, which leads

to defective type II collagen.10,15 These mutations typically
result in alternate splicing or in-frame deletions and inter-
ruption of the triple helix of α1 (II) chains of type II col-
lagen.2,4,14,16 Genetically, Kniest dysplasia is related to SED
congenita and Stickler syndrome.12
Pathology
Pathologic findings include the following: a disorganized
physeal growth plate; soft, crumbly cartilage with a “Swiss
cheese” appearance; and intracytoplasmic inclusions in the
resting chondrocytes.5,11
Clinical Features
The dysplasia usually can be detected at birth. The child’s
limbs are short, with rhizomelic involvement. The charac-
teristic facial appearance consists of a depressed midface
and prominent eyes and forehead. Contractures begin to
appear at approximately 1 year of age. Affected children
cannot fully close the hand into a fist because of contrac-
tures. The joints appear enlarged because of flaring of the
metaphyses. Cleft palate is present in approximately 50%
of infants.
Radiographic Findings
Radiographic findings include the following: osteopenia;
short, bowed tubular bones with exaggerated metaphyseal
flare; and characteristically shaped iliac bones.5 Platyspon-
dyly is apparent; vertical clefts of the vertebral bodies
are seen in 63% of young patients with Kniest dysplasia.13
The ilia are hypoplastic, and the acetabula are small and
shallow.
The appearance of the epiphyses, in particular the
femoral heads, is delayed. The epiphyses are irregularly
shaped, thus leading to angular deformities of the lower
extremities. Patchy, sclerotic changes are seen in the epiph-
yses when they do appear.2 These sclerotic areas correspond
to lakes of bright T2 signal on MRI.3 MRI of the femoral
head has revealed large cartilaginous “megaepiphyses.”7
The presence of enlarged cartilaginous epiphyses and
sclerosis within the epiphysis differentiates Kniest dysplasia
from SED congenita.2 Kniest dysplasia resembles Morquio
syndrome radiographically8; however, the two conditions
can be distinguished by laboratory testing of the urine.
Treatment
Treatment during the neonatal period focuses on respiratory
care because the collagenopathy may lead to tracheomala-
cia.2 Aggressive treatment of upper respiratory infections
may prevent hearing loss. Cleft palates are repaired when
the infants are medically stable.
Orthopaedic Considerations
Orthopaedic treatment often focuses on correction of the
spinal deformity. Cervical atlantoaxial instability has been
reported in Kniest dysplasia. Surgical treatment is posterior
cervical fusion with halo immobilization.6 Kyphoscoliosis
develops in infancy and is resistant to treatment because
CHAPTER 40  Skeletal Dysplasias e415
the dysplastic bone resists attempts at surgical fusion
(Fig. 40-65).
Loss of joint motion creates functional difficulties for
patients with Kniest dysplasia. Thus physical therapy is
recommended, as well as occupational therapy for hand
involvement. Angular deformities of the lower extremities
are best treated by osteotomy in the ambulatory patient,
although recurrence of deformity is common. Degradation
of articular cartilage leads to severe arthritis in adolescence,
and few patients are able to continue to walk.
References
Kniest Dysplasia (Pseudometatrophic Dysplasia)
1. Bromley B, Miller W, Foster SC, et al: The prenatal sonographic
features of Kniest syndrome, J Ultrasound Med 10:705, 1991.
2. Cole WG: Abnormal skeletal growth in Kniest dysplasia caused by
type II collagen mutations, Clin Orthop Relat Res 341:162, 1997.
3. Dwek JR: Kniest dysplasia: MR correlation of histologic and radio-
graphic peculiarities, Pediatr Radiol 35:191, 2005.
4. Fernandes RJ, Wilkin DJ, Weis MA, et al: Incorporation of struc-
turally defective type II collagen into cartilage matrix in Kniest
chondrodysplasia, Arch Biochem Biophys 355:282, 1998.
5. Gilbert-Barnes E, Langer LO Jr, Opitz JM, et al: Kniest dysplasia:
radiologic, histopathological, and scanning electronmicroscopic
findings, Am J Med Genet 63:34, 1996.
6. Merrill KD, Schmidt TL: Occipitoatlantal instability in a child
with Kniest syndrome, J Pediatr Orthop 9:338, 1989.
7. Oestreich AE, Prenger EC: MR demonstrates cartilaginous mega-
epiphyses of the hips in Kniest dysplasia of the young child, Pediatr
Radiol 22:302, 1992.
8. Rimoin DL, Siggers DC, Lachman RS, et al: Metatropic dwarfism,
the Kniest syndrome and the pseudoachondroplastic dysplasias,
Clin Orthop Relat Res 114:70, 1976.
9. Spranger J, Menger H, Mundlos S, et al: Kniest dysplasia is caused
by dominant collagen II (COL2A1) mutations: parental somatic
mosaicism manifesting as Stickler phenotype and mild spondylo-
epiphyseal dysplasia, Pediatr Radiol 24:431, 1994.
10. Spranger J, Winterpacht A, Zabel B, et al: Kniest dysplasia: Dr. W.
Kniest, his patient, the molecular defect, Am J Med Genet 69:79,
1997.
11. Stanescu V, Stanescu R, Maroteaux P, et al: Pathogenic mecha-
nisms in osteochondrodysplasias, J Bone Joint Surg Am 66:817,
1984.
12. Vikkula M, Mariman EC, Lui VC, et al: Autosomal dominant and
recessive osteochondrodysplasias associated with the COL11A2
locus [see comments], Cell 80:431, 1995.
13. Westvik J, Lachman RS: Coronal and sagittal clefts in skeletal
dysplasias, Pediatr Radiol 28:764, 1998.
14. Wilkin DJ, Artz AS, South S, et al: Small deletions in the type II
collagen triple helix produce Kniest dysplasia, Am J Med Genet
85:105, 1999.
15. Wilkin DJ, Bogaert R, Lachman RS, et al: A single amino acid
substitution (G103D) in the type II collagen triple helix produces
Kniest dysplasia, Hum Mol Genet 3:1999, 1994.
16. Winterpacht A, Superti-Furga A, Schwarze U, et al: The deletion
of six amino acids at the C-terminus of the alpha 1 (II) chain
causes overmodification of type II and type XI collagen: further
evidence for the association between small deletions in COL2A1
and Kniest dysplasia, J Med Genet 33:649, 1996.
Chondrodysplasia Punctata
Chondrodysplasia punctata is a group of dysplasias charac-
terized by stippled calcifications within the epiphyses in
e416 SECTION VII  Other Orthopaedic Disorders
A B
FIGURE 40-65  Clinical (A) and radiographic appearance (B and C) of severe kyphoscoliosis in a child aged 1 year and 7 months with
Kniest dysplasia.
infancy and associated with short stature, dry and scaly skin,
occasional heart defects, and cataracts.12 The most common
form of chondrodysplasia punctata is Conradi-Hünermann
syndrome, which is inherited as an X-linked dominant trait.
A rarer autosomal recessive form, characterized by a rhizo-
melic pattern of dwarfism, is often fatal within the first year
of life. Other forms of the disease exist and are becoming
better understood as the molecular genetics of the subtypes
are discovered.34
Genetics
Conradi-Hünermann syndrome comprises a variety of
genetically distinct entities. The X-linked recessive form of
chondrodysplasia (CDPX1) has been localized to the aryl-
sulfatase E (ARSE) gene, a member of the sulfatase gene
family in the Xp22 region.13,25 The exact mutations in the
ARSE gene are variable and probably account for the phe-
notypic variability of the disease.7 Abnormalities in the
ARSE gene lead to deficiency of a sulfatase enzyme that
results in a high degree of sulfation in the cartilage matrix.3
The rhizomelic form of chondrodysplasia punctata is
transmitted as an autosomal recessive trait. It results from
a variety of mutations in the PEX7 gene, which encodes the
protein peroxin 7.5,6,24,27 This type of chondrodysplasia is
genetically a member of the family of peroxisomal disor-
ders, which include Zellweger syndrome and infantile
Refsum disease.30 As in CDXP1, the variability in mutations
in the PEX7 gene results in variable disease severity.23
C
The X-linked dominant form of chondrodysplasia punc-
tata (CDPX2), also known as Conradi-Hünermann-Happle
syndrome, is seen in girls and is a result of a mutation in
the emopamil-binding protein (EBP) gene. EBP is also
involved in the cholesterol biosynthesis pathway.33 Although
it has become clear that the genetic basis for all known
forms of chondrodysplasia punctata is error in cholesterol
metabolism, the link to the development of skeletal dyspla-
sia remains elusive.
Pathology
Specimens obtained from patients with rhizomelic chondro-
dysplasia punctata exhibit marked irregularity of vascular-
ization of the epiphyses, disturbance of chondroblastic
maturation, and mucoid degeneration of cartilage.10,35 In
other forms of the dysplasia, irregular areas of calcification
and cyst formation in the epiphyseal cartilage are noted.
Clinical Features
Rhizomelic chondrodysplasia punctata is characterized clini-
cally by symmetric shortening of the proximal limbs. The
shortening is notable at birth. Contractures of the joints,
including dislocation of the hips, are common. The patient
has a characteristic dysmorphic face with a depressed nasal
bridge. Bilateral cataracts are present in 75% of patients
with the rhizomelic form. Other systemic abnormalities
may include congenital heart disease, upper airway

obstruction, psychomotor retardation, and tracheoesopha-
geal fistula.8,10,28
In the milder type of chondrodysplasia punctata, limb
shortening is less severe and may be asymmetric. The facial
appearance is similar to that of patients with the rhizomelic
form, with a flat nasal bridge. Similarly, the skin is dry and
scaly, an appearance termed ichthyosiform erythroderma.16
The abnormalities in the child’s clinical appearance may be
subtle enough that the disorder is not diagnosed at the time
of birth.
Cataracts are suggested as a diagnostic marker to dif-
ferentiate among the different forms of chondrodysplasia
punctata. In both the rhizomelic and the X-linked domi-
nant types, cataracts are present in approximately two
thirds of cases. In the rhizomelic type, the opacities tend
to be bilateral and symmetric. In the X-linked dominant
type, they are usually asymmetric and often unilateral. In
contrast, the consistent lack of cataracts is characteristic
of the autosomal dominant form of chondrodysplasia
punctata.17
Radiographic Findings
The hallmark of the disease is the presence of multiple
punctate opacities in the unossified cartilage at the ends of
the long bones, the tarsals, the pelvis, and the vertebrae
(Fig. 40-66). The radiographic picture of epiphyseal punc-
tate calcifications is typical, but early diagnosis is important
because the characteristic calcifications disappear within
the first year of life1 (Fig. 40-67). Although they are the
hallmark of chondrodysplasia punctata, the calcifications are
nonspecific and have been seen in a variety of disorders.
These include the following: Zellweger syndrome; warfarin,
A
FIGURE 40-66  A and B, Punctate calcifications are seen throughout the carpals and tarsals of a 5-month-old child with chondrodysplasia
punctata.
CHAPTER 40  Skeletal Dysplasias e417
phenytoin, alcohol, and rubella embryopathies; chromo-
some trisomies 18 and 21; Smith-Lemli-Opitz syndrome;
hypothyroidism; and other rare disorders.21,34 Stippling may
also occur in the trachea and larynx and can result in upper
airway obstruction.
Other radiographic findings include cranial stenosis,
which can lead to cervical spinal cord compression.15 Upper
cervical spine abnormalities, such as os odontoideum and
instability, have also been described4 (Fig. 40-68). Congeni-
tal vertebral anomalies and scoliosis or kyphosis are often
present. In the lateral projection, vertebral bodies may show
separate centers of ossification anteriorly, separated by a
cleft posteriorly. This feature is most commonly seen in the
thoracolumbar spine. Clefting is seen in 79% of young
patients with chondrodysplasia punctata.32 Platyspondyly is
not present.
The peculiar appearance of a duplicate calcaneus may be
seen in chondrodysplasia punctata, as well as in thanato-
phoric dysplasia. This finding results from delayed coales-
cence of two primary calcaneal centers of ossification.9
The appearance of the secondary centers of ossification
is often delayed. After the stippling has resolved, the radio-
graphic appearance of the long bones resembles that of
epiphyseal dysplasia. Coxa vara may be present.
Prenatal Diagnosis
The prenatal diagnosis of chondrodysplasia punctata has
been made with ultrasonography.14,26 The punctate calcifica-
tions can be seen in late pregnancy in the rhizomelic form,
whereas limb shortening is apparent earlier.2,11 Amniocen-
tesis has also been useful in diagnosing the rhizomelic
form.19
e418 SECTION VII  Other Orthopaedic Disorders
B iodesis or lengthening may be helpful in adolescent patients.
FIGURE 40-67  A, Multiple areas of calcification are evident in the
pelvis and proximal femur of an infant with chondrodysplasia
punctata. B, At 1 year and 6 months of age, the calcified areas
have disappeared.
Orthopaedic Considerations
Orthopaedic treatment consists primarily of managing the
scoliosis. Because the curves may be severe in young
patients, surgical management is typically difficult. Bracing
is of questionable use. A multicenter study of spinal defor-
mity in 20 patients with chondrodysplasia punctata22 found
that all patients had spinal deformity, most commonly a
rapidly progressive form of kyphoscoliosis that appeared at
an average age of 1.1 years (Fig. 40-69). The bony anatomy
in the area of the deformity was described as “dysplastic”
because of the radiographic resemblance to congenital sco-
liosis and the overwhelming tendency to rapid progression.
Surgical techniques to control the scoliosis that rely on
normal bony development (e.g., hemiepiphysiodesis) typi-
cally failed because of the inherent bone dysplasia. The
most successful treatment consisted of early anterior and
posterior spinal fusion (Fig. 40-70). Pseudarthrosis and pro-
gression of the deformity were common. Patients with
FIGURE 40-68  Vertebral body irregularity in the cervical spine of a
1-year-old child with chondrodysplasia punctata.
dysplastic curves required, on average, 2.6 surgical proce-
dures to achieve fusion.22
Upper cervical instability may be detected on flexion-
extension lateral cervical spine radiographs. Occasionally,
surgical stabilization is necessary (Fig. 40-71). Severe
cervical stenosis has also been described in patients with
chondrodysplasia punctata.18,20 Although the presence of
spasticity is often accompanied by abnormal MRI signal in
the brain in severely affected patients,29 cervical stenosis
should be excluded.
Coxa vara, when severe, is treated by valgus osteotomy
of the proximal femur. Limb length equalization by epiphys-
Prognosis
In the past, most infants with the rhizomelic form of chon-
drodysplasia punctata died in infancy of respiratory compli-
cations. More recent reports found that 90% of infants with
rhizomelic chondrodysplasia punctata survive up to 1 year
of age, and 50% are alive at age 6 years.32 Patients who
survive have a high rate of associated spasticity, psychomo-
tor retardation, growth failure, seizures, thermoregulatory
instability, feeding difficulty, and pneumonia.31 Most patients
with milder forms of Conradi-Hünermann syndrome have
normal life spans.
References
Chondrodysplasia Punctata
1. Andersen PE Jr, Justesen P: Chondrodysplasia punctata: report of
two cases, Skeletal Radiol 16:223, 1987.
2. Argo KM, Toriello HV, Jelsema RD, et al: Prenatal findings in
chondrodysplasia punctata, tibia-metacarpal type, Ultrasound
Obstet Gynecol 8:350, 1996.
3. Baitner AC, Maurer SG, Gruen MB, et al: The genetic basis of the
osteochondrodysplasias, J Pediatr Orthop 20:594, 2000.
4. Bethem D: Os odontoideum in chondrodystrophia calcificans con-
genita: a case report, J Bone Joint Surg Am 64:1385, 1982.
 CHAPTER 40  Skeletal Dysplasias e419

A B

C D
FIGURE 40-69  A and B, Clinical appearance of a 3-year-old boy with chondrodysplasia punctata and kyphoscoliosis. Lateral (C) and
anteroposterior (D) radiographs show significant kyphosis and scoliosis.

5. Braverman N, Chen L, Lin P, et al: Mutation analysis of PEX7
in 60 probands with rhizomelic chondrodysplasia punctata and
functional correlations of genotype with phenotype, Hum Mutat
20:284, 2002.
6. Braverman N, Steel G, Obie C, et al: Human PEX7 encodes the
peroxisomal PTS2 receptor and is responsible for rhizomelic chon-
drodysplasia punctata, Nat Genet 15:369, 1997.
7. Brunetti-Pierri N, Andreucci MV, Tuzzi R, et al: X-linked recessive
chondrodysplasia punctata: spectrum of arylsulfatase E gene muta-
tions and expanded clinical variability, Am J Med Genet A 117:164,
2003.
8. Ciske DJ, Waggoner DJ, Dowton SB, et al: Unique cardiac and
cerebral anomalies with chondrodysplasia punctata, Am J Med
Genet 75:59, 1998.
e420 SECTION VII  Other Orthopaedic Disorders
A B
C D
FIGURE 40-70  A and B, Radiographs of a 1-year-old girl with chondrodysplasia punctata reveals kyphoscoliosis. C and D, By age 3 years,
progression of the deformity was significant.
9. Cormier-Daire V, Savarirayan R, Unger S, et al: “Duplicate calca-
neus”: a rare developmental defect observed in several skeletal
dysplasias, Pediatr Radiol 31:38, 2001.
10. Coughlin EJ Jr, Guare HT, Moskovitz AJ, et al: Chondrodys-
trophia calcificans congenita, J Bone Joint Surg Am 32:938,
1950.
11. Duff P, Harlass FE, Milligan DA, et al: Prenatal diagnosis of chon-
drodysplasia punctata by sonography [see comments], Obstet
Gynecol 76:497, 1990.
12. Fairbank HAT: Dysplasia epiphysialis punctata; synonyms: stippled
epiphyses, chondrodystrophia calcificans congenita (Hunermann),
J Bone Joint Surg Br 31:114, 1949.
13. Franco B, Meroni G, Parenti G, et al: A cluster of sulfatase genes
on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and
implications for warfarin embryopathy, Cell 81:15, 1995.
14. Gendall PW, Baird CE, Becroft DM, et al: Rhizomelic chondro-
dysplasia punctata: early recognition with antenatal ultrasonogra-
phy, J Clin Ultrasound 22:271, 1994.
 CHAPTER 40  Skeletal Dysplasias e421

E F

G H
FIGURE 40-70, cont’d  E and F, After halo traction, spinal fusion was performed. G and H, By 5 years of age she has undergone revision
anterior posterior spinal fusion.

15. Goodman P, Dominguez R: Cervicothoracic myelopathy in
Conradi-Hunermann disease: MRI diagnosis, Magn Reson Imaging
8:647, 1990.
16. Hamaguchi T, Bondar G, Siegfried E, et al: Cutaneous histopathol-
ogy of Conradi-Hunermann syndrome, J Cutan Pathol 22:38,
1995.
17. Happle R: Cataracts as a marker of genetic heterogeneity in chon-
drodysplasia punctata, Clin Genet 19:64, 1981.
18. Herman TE, Lee BC, McAlister WH, et al: Brachytelephalangic
chondrodysplasia punctata with marked cervical stenosis and cord
compression: report of two cases, Pediatr Radiol 32:452, 2002.
19. Hoefler S, Hoefler G, Moser AB, et al: Prenatal diagnosis of rhi-
zomelic chondrodysplasia punctata, Prenat Diagn 8:571, 1988.
20. Khanna AJ, Braverman NE, Valle D, et al: Cervical stenosis second-
ary to rhizomelic chondrodysplasia punctata, Am J Med Genet
99:63, 2001.
e422 SECTION VII  Other Orthopaedic Disorders

A B

C D
FIGURE 40-71  A, Lateral radiograph of cervical spine in 7-month-old boy with chondrodysplasia punctata. Stippling of the vertebral
bodies and cervical kyphosis are evident. The patient was myelopathic and had respiratory distress. B, Posterior spinal fusion with halo
immobilization was performed. C, Pseudarthrosis. The fusion failed, and the patient required two reoperations, including anterior cervical
decompression and fusion. D, Radiograph at 8 years of age shows solid fusion.

21. Leicher-Duber A, Schumacher R, Spranger J, et al: Stippled epiph-
yses in fetal alcohol syndrome, Pediatr Radiol 20:369, 1990.
22. Mason DE, Sanders JO, MacKenzie WG, et al: Spinal deformity
in chondrodysplasia punctata, Spine 27:1995, 2002.
23. Motley AM, Brites P, Gerez L, et al: Mutational spectrum in the
PEX7 gene and functional analysis of mutant alleles in 78 patients
with rhizomelic chondrodysplasia punctata type 1, Am J Hum
Genet 70:612, 2002.
24. Motley AM, Hettema EH, Hogenhout EM, et al: Rhizomelic chon-
drodysplasia punctata is a peroxisomal protein targeting disease
caused by a non-functional PTS2 receptor, Nat Genet 15:377,
1997.

25. Parenti G, Buttitta P, Meroni G, et al: X-linked recessive chondro-
dysplasia punctata due to a new point mutation of the ARSE gene,
Am J Med Genet 73:139, 1997.
26. Pryde PG, Bawle E, Brandt F, et al: Prenatal diagnosis of nonrhi-
zomelic chondrodysplasia punctata (Conradi-Hunermann syn-
drome), Am J Med Genet 47:426, 1993.
27. Purdue PE, Zhang JW, Skoneczny M, et al: Rhizomelic chondro-
dysplasia punctata is caused by deficiency of human PEX7, a
homologue of the yeast PTS2 receptor, Nat Genet 15:381, 1997.
28. Seguin JH, Baugh RF, McIntee RA, et al: Airway manifestations of
chondrodysplasia punctata, Int J Pediatr Otorhinolaryngol 27:85,
1993.
29. Viola A, Confort-Gouny S, Ranjeva JP, et al: MR imaging and MR
spectroscopy in rhizomelic chondrodysplasia punctata, AJNR Am
J Neuroradiol 23:480, 2002.
30. Wanders RJ, Waterham HR: Peroxisomal disorders I: biochemistry
and genetics of peroxisome biogenesis disorders, Clin Genet
67:107, 2005.
31. Wardinsky TD, Pagon RA, Powell BR, et al: Rhizomelic chondro-
dysplasia punctata and survival beyond one year: a review of the
literature and five case reports [see comments], Clin Genet 38:84,
1990.
32. White AL, Modaff P, Holland-Morris F, et al: Natural history of
rhizomelic chondrodysplasia punctata, Am J Med Genet A 118:332,
2003.
33. Whittock NV, Izatt L, Simpson-Dent SL, et al: Molecular prenatal
diagnosis in a case of an X-linked dominant chondrodysplasia punc-
tata, Prenat Diagn 23:701, 2003.
34. Wulfsberg EA, Curtis J, Jayne CH, et al: Chondrodysplasia punc-
tata: a boy with X-linked recessive chondrodysplasia punctata due
to an inherited X-Y translocation with a current classification of
these disorders, Am J Med Genet 43:823, 1992.
35. Yang SS, Heidelberger KP, Brough AJ, et al: Lethal short-limbed
chondrodysplasia in early infancy, Perspect Pediatr Pathol 3:1,
1976.
Metaphyseal Chondrodysplasia
Metaphyseal chondrodysplasia denotes a group of bone dys-
plasias characterized by failure of normal mineralization of
the zone of provisional calcification that leads to widened
physes and enlarged knobby metaphyses. Histologic studies
of the growth plate show abnormalities in columnization,
with nests and clusters of chondrocytes instead of orderly
rows.6 Because the longitudinal growth of the bone is
affected, affected patients are short, and angular deformi-
ties may occur. In all types of this dysplasia the epiphyses
are spared, and thus arthritis rarely develops. Many differ-
ent types of metaphyseal chondrodysplasia are recognized,
and the most common are described here.12
Jansen Type
The Jansen type is the most severe, but also the rarest, form
of metaphyseal chondrodysplasia.
Genetics
The genetic abnormality is a mutation of the PTH/PTHrP
(PTHrP) receptor gene on chromosome 3.24,28
Clinical Features
The disorder is usually apparent at birth because of the
severely short stature, widely spaced eyes, and exophthal-
mos. The forearms and legs are very short. The lower limb
CHAPTER 40  Skeletal Dysplasias e423
tends to develop angular deformities, with angulation
present at the junction of the metaphysis and diaphysis.
Radiographic Findings
Radiographs show bulbous expansion of the metaphyses,
with mottling and fragmentation.25 The metaphyses are
wide, resembling what is seen in rickets.29 The epiphyses
are normal once they appear. The hands and feet are
involved. The metacarpals and metatarsals are cupped, with
dense, sclerotic bone on the side of the metaphysis.
Laboratory Findings
Severe hypercalcemia and hypophosphatasia resembling
hyperparathyroidism are seen in patients with Jansen meta-
physeal chondrodysplasia, despite normal or low levels of
PTH.9,24 PTH/PTHrP receptors normally mediate the
endocrine actions of PTH that are required for the control
of calcium homeostasis. This action is disturbed in Jansen
metaphyseal chondrodysplasia.10 The gene mutation also
disrupts normal chondrocyte proliferation and differentia-
tion because of a high degree of expression in the growth
plate.1
Schmid Type
The Schmid type is the most common form of metaphyseal
chondrodysplasia.
Genetics
Inheritance is autosomal dominant. Mutations present on
chromosome 6 affect the C-terminal nonhelical domain
of type X collagen (COL10A1) in Schmid metaphyseal
chondrodysplasia.32,33 Type X collagen is synthesized specifi-
cally by hypertrophic chondrocytes at sites of endochondral
ossification. The mutations in Schmid metaphyseal chon-
drodysplasia result in impaired collagen X trimer assembly
and secretion.5 Knowledge of the precise mutation respon-
sible for Schmid metaphyseal chondrodysplasia has led
to successful prenatal diagnosis through chorionic villus
sampling.23
Clinical Features
This dysplasia is characterized by predominant involvement
of the proximal femora and moderate short stature. Skeletal
changes are not present at birth. They develop with weight
bearing at 3 to 5 years of age, when bowing of the lower
extremities becomes apparent.2 Angular deformities, par-
ticularly genu varum, are common after the child has been
walking for a few years (Fig. 40-72). Coxa vara produces a
waddling gait. Despite the normal appearance of the
patient’s face, this dysplasia has often been mistaken for
achondroplasia.34
Radiographic Findings
The epiphyses are normal in Schmid metaphyseal chondro-
dysplasia. The skull, thorax, and pelvis are not involved. The
metaphyses are widened and the physes are abnormally
thick. Radiographs show splaying, irregularity, and cupping
of the metaphyses (Fig. 40-73). The proximal femoral
metaphysis is particularly irregular and splayed, and medial
beaking is evident.13 Coxa vara is present to varying degrees.
A triangular bone fragment may be seen on the inferior
e424 SECTION VII  Other Orthopaedic Disorders
A B
FIGURE 40-72  A, Girl aged 4 years and 9 months with Schmid
metaphyseal chondrodysplasia. B, Clinical appearance of the child
after right proximal tibial osteotomy and left distal femoral and
proximal tibial osteotomies were performed.
FIGURE 40-73  Genu varum in a 4-year-old girl with Schmid
metaphyseal chondrodysplasia. The physes are widened, and
metaphyseal cupping resembles rickets.
aspect of the femoral neck when the coxa vara is severe.
Spinal involvement is rare, consisting of mild platyspondyly
and end-plate irregularity.27
Differential Diagnosis
Entities to be ruled out before diagnosing Schmid metaphy-
seal chondrodysplasia include nutritional and vitamin
A B
FIGURE 40-74  A, Coxa vara in an 8-year-old boy with Schmid
chondrodysplasia. B, Radiographic appearance of the lower
extremities 2 years and 6 months after bilateral proximal femoral
osteotomy, right proximal tibial osteotomy, and left distal femoral
osteotomy.
D–resistant rickets.7 The diagnosis of Schmid metaphyseal
chondrodysplasia is based on normal serum chemistry
values.
Orthopaedic Considerations
Orthopaedic treatment is primarily confined to the lower
extremities. Valgus osteotomy of the proximal femur may
be indicated for children with significant coxa vara (Fig.
40-74). Indications for surgical correction include a trian-
gular fragment in the inferior femoral neck and progressive
deformity.2 Usually the entire femur has a varus bow, with
the clinical appearance of genu varum. The varus alignment
may improve spontaneously during childhood.26 If the
femoral condyles are parallel to the floor, corrective oste-
otomy may not lead to improved functional results.2 If
surgical realignment of genu varum is performed, distal
femoral and proximal tibial osteotomies are usually required.
After osteotomies, recurrence of deformity with growth is
common. Hemiepiphysiodesis or stapling may improve
angular deformities in some children (Fig. 40-75).
Cartilage–Hair Hypoplasia (McKusick Type)
Genetics
This chondrodysplasia is transmitted as an autosomal reces-
sive trait. It is particularly prevalent in Finland,15,18 as well
as in the Amish population.2 The genetic defect in cartilage–
hair hypoplasia (CHH) is in the ribonuclease of mitochon-
drial RNA–processing (RMRP) gene, which has been
mapped to chromosome 9.8,11,30

A B
FIGURE 40-75  A, Genu valgum in a 7-year-old boy with metaphyseal chondrodysplasia. B, Medial femoral hemiepiphyseal stapling was
performed. C, Improvement in alignment is notable.
Clinical Features
Clinically, affected patients are short, usually shorter than
those with Schmid metaphyseal chondrodysplasia. Height
is severely diminished, with adult stature ranging from 105
to 157 cm (3 feet 5 inches to 5 feet 2 inches). The fingers
and toes are shortened and hyperextensible. Elbow exten-
sion may be limited. Genu varum usually is mild and rarely
requires treatment. Ankle deformity is caused by unusually
long fibulae, thus leading to hindfoot varus, with midfoot
and forefoot valgus. Scoliosis may be present in up to one
fourth of patients with CHH. Lumbar lordosis is usually
increased.15,18 The milder clinical appearance in infancy may
cause a delay in the diagnosis.14 The presence of fine, sparse,
short, brittle hair is the distinguishing feature. The eye-
lashes and eyebrows are also affected.21,22
Unlike the other metaphyseal chondrodysplasias, anemia
is frequently seen in children with CHH.16 This dysplasia
is also associated with immunodeficiency secondary to
decreased immunoglobulins.3,17 The increased mortality
seen in patients with CHH is attributable to their defective
immunity.19 Patients with CHH also have an increased risk
of cancer, particularly non-Hodgkin lymphoma, probably as
a result of their defective immune systems.20
Radiographic Findings
Radiographic findings resemble those seen with the Schmid
type. Coxa vara may be present but is usually milder than
that associated with Schmid metaphyseal chondrodyspla-
sia.2 The epiphyses are normal. Odontoid hypoplasia is
present in some patients. In the hands, the metaphyses of
the phalanges are cupped and the epiphyses appear delta
shaped. The vertebral bodies are ovoid.
CHAPTER 40  Skeletal Dysplasias e425
C
Orthopaedic Considerations
Orthopaedic treatment is usually directed toward the
ankle and foot. A calcaneal sliding osteotomy can correct
hindfoot varus, but the ankle should be assessed for liga-
mentous laxity before osteotomy to improve results.31
Supramalleolar osteotomy can be used for ankle varus sec-
ondary to fibular overgrowth.2 Growth hormone has been
used with mixed results to improve stature in a patient
with CHH.4,8
References
Metaphyseal Chondrodysplasia
1. Baitner AC, Maurer SG, Gruen MB, et al: The genetic basis of the
osteochondrodysplasias, J Pediatr Orthop 20:594, 2000.
2. Bassett GS: Orthopaedic aspects of skeletal dysplasias, Instr
Course Lect 39:381, 1990.
3. Berthet F, Siegrist CA, Ozsahin H, et al: Bone marrow transplanta-
tion in cartilage–hair hypoplasia: correction of the immunodefi-
ciency but not of the chondrodysplasia, Eur J Pediatr 155:286,
1996.
4. Bocca G, Weemaes CM, van der Burgt I, et al: Growth hormone
treatment in cartilage–hair hypoplasia: effects on growth and the
immune system, J Pediatr Endocrinol Metab 17:47, 2004.
5. Chan D, Ho MS, Cheah KS, et al: Aberrant signal peptide cleavage
of collagen X in Schmid metaphyseal chondrodysplasia: implica-
tions for the molecular basis of the disease, J Biol Chem 276:7992,
2001.
6. Cooper RR, Ponseti IV: Metaphyseal dysostosis: description of an
ultrastructural defect in the epiphyseal plate chondrocytes: case
Report, J Bone Joint Surg Am 55:485, 1973.
7. Evans R, Caffey J: Metaphyseal dysostosis resembling vitamin D
refractory rickets, Am J Dis Child 95:581, 1958.
e426 SECTION VII  Other Orthopaedic Disorders
8. Harada D, Yamanaka Y, Ueda K, et al: An effective case of growth
hormone treatment on cartilage–hair hypoplasia, Bone 36:317,
2005.
9. Juppner H: Functional properties of the PTH/PTHrP receptor,
Bone 17(Suppl):39S, 1995.
10. Juppner H, Schipani E: Receptors for parathyroid hormone
and parathyroid hormone-related peptide: from molecular cloning
to definition of diseases, Curr Opin Nephrol Hypertens 5:300,
1996.
11. Juvonen E, Makitie O, Makipernaa A, et al: Defective in-vitro
colony formation of haematopoietic progenitors in patients with
cartilage–hair hypoplasia and history of anaemia, Eur J Pediatr
154:30, 1995.
12. Kozlowski K: Metaphyseal and spondylometaphyseal chondrodys-
plasias, Clin Orthop Relat Res 114:83, 1976.
13. Lachman RS, Rimoin DL, Spranger J, et al: Metaphyseal chondro-
dysplasia, Schmid type: clinical and radiographic delineation with
a review of the literature [see comments], Pediatr Radiol 18:93,
1988.
14. Le Merrer M, Maroteaux P: Cartilage hair hypoplasia in infancy:
a misleading chondrodysplasia, Eur J Pediatr 150:847, 1991.
15. Makitie O: Cartilage–hair hypoplasia in Finland: epidemiological
and genetic aspects of 107 patients, J Med Genet 29:652, 1992.
16. Makitie O, Juvonen E, Dunkel L, et al: Anemia in children with
cartilage–hair hypoplasia is related to body growth and to the
insulin-like growth factor system, J Clin Endocrinol Metab 85:563,
2000.
17. Makitie O, Kaitila I, Savilahti E, et al: Deficiency of humoral
immunity in cartilage–hair hypoplasia, J Pediatr 137:487, 2000.
18. Makitie O, Marttinen E, Kaitila I, et al: Skeletal growth in
cartilage–hair hypoplasia: a radiological study of 82 patients,
Pediatr Radiol 22:434, 1992.
19. Makitie O, Pukkala E, Kaitila I, et al: Increased mortality in
cartilage–hair hypoplasia, Arch Dis Child 84:65, 2001.
20. Makitie O, Pukkala E, Kaitila I, et al: Increased incidence of cancer
in patients with cartilage–hair hypoplasia, J Pediatr 134:315, 1999.
21. McKusick VA: Metaphyseal dysostosis and thin hair: a new reces-
sively inherited syndrome, Lancet 1:832, 1964.
22. McKusick VA, Eldridge R, Hostetler JA, et al: Dwarfism in the
Amish. II, Bull Johns Hopkins Hosp 116:697, 1965.
23. Milunsky J, Maher T, Lebo R, et al: Prenatal diagnosis for Schmid
metaphyseal chondrodysplasia in twins, Fetal Diagn Ther 13:167,
1998.
24. Minagawa M, Arakawa K, Takeuchi S, et al: Jansen-type metaphy-
seal chondrodysplasia: analysis of PTH/PTH-related protein recep-
tor messenger RNA by the reverse transcriptase-polymerase chain
method, Endocr J 44:493, 1997.
25. Nazara Z, Hernandez A, Corona-Rivera E, et al: Further clinical
and radiological features in metaphyseal chondrodysplasia Jansen
type, Radiology 140:697, 1981.
26. Rosenbloom AL, Smith DW: The natural history of metaphyseal
dysostosis, J Pediatr 66:857, 1965.
27. Savarirayan R, Cormier-Daire V, Lachman RS, et al: Schmid type
metaphyseal chondrodysplasia: a spondylometaphyseal dysplasia
identical to the “Japanese” type, Pediatr Radiol 30:460, 2000.
28. Schipani E, Kruse K, Juppner H, et al: A constitutively active
mutant PTH-PTHrP receptor in Jansen-type metaphyseal chon-
drodysplasia, Science 268:98, 1995.
29. Silverthorn KG, Houston CS, Duncan BP, et al: Murk Jansen’s
metaphyseal chondrodysplasia with long-term followup, Pediatr
Radiol 17:119, 1987.
30. Sulisalo T, van der Burgt I, Rimoin DL, et al: Genetic homogeneity
of cartilage–hair hypoplasia [see comments], Hum Genet 95:157,
1995.
31. Tachdjian MO: Pediatric orthopaedics, ed 2, Philadelphia, 1990,
Saunders.
32. Wallis GA, Rash B, Sykes B, et al: Mutations within the gene
encoding the alpha 1 (X) chain of type X collagen (COL10A1)
cause metaphyseal chondrodysplasia type Schmid but not several
other forms of metaphyseal chondrodysplasia, J Med Genet
33:450, 1996.
33. Warman ML, Abbott M, Apte SS, et al: A type X collagen muta-
tion causes Schmid metaphyseal chondrodysplasia, Nat Genet
5:79, 1993.
34. Wasylenko MJ, Wedge JH, Houston CS, et al: Metaphyseal chon-
drodysplasia, Schmid type: a defect of ultrastructural metabolism:
case report, J Bone Joint Surg Am 62:660, 1980.
Osteopetrosis
Osteopetrosis is a rare bone dysplasia that was first described
by Albers-Schönberg in 19043 and, according to Hamersma,
given the name osteopetrosis by Karshner in 1926.36
The dysplasia is characterized by failure of osteoclasts to
resorb bone. Calcified chondroid and primitive bone persist
and lead to osteosclerosis and increased brittleness of the
bones.
Types
Molecular genetic research has delineated several forms of
the disease.75 Previously, the disease was subdivided clini-
cally into the classic congenital form known as malignant
osteopetrosis, two milder forms known as benign or tarda
osteopetrosis, intermediate forms,7,32,41,79 and a form linked
to renal tubular acidosis. Rare cases of osteopetrosis associ-
ated with congenital brain malformations and syringomyelia
have been reported.58,59
Malignant Osteopetrosis
The incidence of malignant autosomal recessive osteopetro-
sis is 1 in 300,000 births, with an increased incidence in
Costa Rica.27 In malignant osteopetrosis, clinical manifesta-
tions appear at birth or in early infancy. Obliteration of the
marrow cavity by bony overgrowth results in an inability of
the bone marrow to participate in hematopoiesis. Pancyto-
penia develops, resulting in presenting symptoms of abnor-
mal bleeding, easy bruising, progressive anemia, and failure
to thrive. Hepatosplenomegaly occurs in response to the
anemia. Dentition is delayed, and the teeth have multiple
caries. Bony overgrowth of the cranial foramina causes
cranial nerve palsies, which result in early blindness and
deafness. Hearing loss is both conductive and sensorineu-
ral.23 Hydrocephalus may develop, and stenosis of the
carotid and vertebral arteries has been described.70 Patho-
logic fractures occur in the fragile, brittle bones. The clinical
course is rapidly progressive and is lethal at a very early age
in the absence of a bone marrow transplant.
Benign or Tarda Osteopetrosis
The onset of benign osteopetrosis varies.10 Often the dys-
plasia is diagnosed incidentally after radiographic examina-
tion of an asymptomatic patient. Approximately 40% of
patients with benign osteopetrosis are asymptomatic.9 Type
I autosomal dominant osteopetrosis is less common than
type II and is not associated with an increased fracture risk.
Clinical findings in type II autosomal dominant osteopetro-
sis (also known as Albers-Schönberg disease) are limited to
mild anemia, pathologic fractures, and premature osteoar-
thritis. Patients generally are healthy and have normal life

spans. In rare cases osteomyelitis of the mandible may
occur.
Osteopetrosis Associated With Renal Tubular
Acidosis
In a series of patients with this form of osteopetrosis, dental
caries, cerebral calcifications, and optic atrophy were
common, whereas anemia was usually not present.2
Genetics
Malignant osteopetrosis is transmitted as an autosomal
recessive trait, the two subtypes of osteopetrosis tarda are
inherited in a autosomal dominant fashion,11,26,34 and the
intermediate form is autosomal recessive. Fifty percent to
60% of patients with autosomal recessive malignant osteo-
petrosis have mutations in the TCIRG1 gene on chromo-
some 11, which codes for a subunit of the H+-adenosine
triphosphatase proton pump of the osteoclast.28,65 Muta-
tions in the chloride channel of the osteoclast, specifically
in the CLCN7 chloride channel gene on chromosome
16p13.3,48,77 have been found in most patients with type II
autosomal dominant osteopetrosis17,50 and autosomal reces-
sive intermediate osteopetrosis,14 as well as in 13% of
patients with severe osteopetrosis.29 Type I autosomal domi-
nant osteopetrosis has also been localized to chromosome
11q12-13.76 A small subset of patients has osteopetrosis
associated with renal tubular acidosis, which is autosomal
recessive in inheritance and is linked with cerebral calcifica-
tions. This form of osteopetrosis results from a lack of
carbonic anhydrase II.56 Carbonic anhydrase deficiency
interferes with acidification of the bony surface and thereby
blocks resorption by the osteoclasts.75
A B
FIGURE 40-76  Histologic findings in osteopetrosis. Original magnifications ×100 (A) and ×400 (B). Note the irregular patches of
immature chondro-osseous tissue embedded in a matrix of coarse fiber bone with wide and prominent cement lines.
CHAPTER 40  Skeletal Dysplasias e427
Pathology
Abnormal osteoclastic activity leads to the inability to absorb
cartilage and bone. Shapiro and associates performed histo-
logic, ultrastructural, and biochemical studies of osteope-
trotic bone.64 The bone contained an increased number of
osteoclasts, but the osteoclasts were not resorbing bone, as
evidenced by the absence of ruffled borders and clear zones.
The osteoclasts were unable to respond to PTH. There is
an inherent inability to activate macrophages and mono-
cytes.81 Pathologic changes in osteopetrosis result from
failure to resorb enchondral cartilage and bone. Formation
proceeds normally, leading to the presence of too much
immature bone. Calcified cartilage and woven bone persist
down into the metaphysis and diaphysis. The metaphysis
widens and becomes bulbous as a result of lack of funneliza-
tion, and the cortex thickens. Because the overabundant
bone is immature, collagen fibrils are less numerous than
normal, and the bones are brittle and prone to break.
Microscopically, the characteristic histologic picture con-
sists of irregular patches of immature chondro-osseous
tissue embedded in matrices of coarse fiber bone (Fig.
40-76). Cement lines are wide and prominent. The bone
marrow spaces are obliterated by the dense bands of imma-
ture bony tissue.
Intramembranous bone formation and bone resorption
are also affected. The cranial nerves are pinched by the bony
overgrowth of the cranial foramina.
Clinical Features
Osteopetrosis produces the characteristic orthopaedic clini-
cal problems of fractures, deformity, back and bone pain,
e428 SECTION VII  Other Orthopaedic Disorders
FIGURE 40-77  Osteopetrosis in a 5-year-old child. The
intramedullary canal has been filled with bone. There is no
distinction between cortical and cancellous bone.
and osteomyelitis.47 Pathologic fractures are common in
osteopetrosis because of the brittle nature of the “marble
bones.” In a series of 42 patients with autosomal dominant
type II osteopetrosis, 78% of patients sustained fractures.8
The fracture line usually is transverse, but epiphyseal sepa-
rations, including slipped capital femoral epiphysis, have
also been seen.19,46,55,63 Fracture callus is produced, although
healing usually is slow. Histologically the callus is normal;
however, subsequent normal remodeling into mature bone
with a developed haversian canal does not occur.22 Callus
can envelop the existing bone. The proximal femur is par-
ticularly prone to fracture.33 Coxa vara may develop as a
result of the shear stresses across the osteopetrotic femoral
neck. Osteomyelitis is common in patients with osteopetro-
sis because of reduced resistance to infection. The mandible
is most frequently involved.6,40
Radiographic Findings
The hallmark of osteopetrosis is the increased radiopacity
of the bones. No distinction exists between cortical and
cancellous bone because the intramedullary canal is filled
with bone30 (Fig. 40-77).
With excellent radiographic technique, transverse stria-
tions can be seen in the long bones. The transverse bands
are composed of alternating zones of sclerosis and relative
lucency, which correlate with the activity of the disease.
Longitudinal striations that represent vascular columns may
be seen.
Endobones, also known as os-in-os or bone-within-a-bone,
are miniaturized, radiodense tissues that resemble tiny
bones inside the cortices of the tubular bones (Fig. 40-78).
FIGURE 40-78  Endobones in the metacarpals and phalanges of
the hand. Note the transverse striations in the distal radius.
They are pathognomonic for osteopetrosis. Endobones are
most noticeable in early childhood and are best seen in the
tarsals, tibia, fibula, radius, ulna, vertebrae, and pelvis.
Flaring of the metaphysis is present because of failure of
normal bone modeling and tubulization. Flaring is best seen
at physes with the most rapid growth, such as the distal
femur.
In early childhood the vertebral bodies are uniformly
radiodense. In adolescence and adulthood the spine shows
a “rugger jersey” appearance (Fig. 40-79). The vertebrae
resemble sandwiches, with osteosclerosis adjacent to the
end-plates but relative radiolucency in the middle of the
vertebral body.
On skeletal scintigraphy one sees increased uptake of
tracer, particularly in the distal femur and proximal tibia.
Dual x-ray absorptiometry of the lumbar spine, femur, and
total body shows a marked increase in bone mineral density.25
Bone mineral content is also increased in osteopetrosis.34
The skull is radiodense and the fossae are underdevel-
oped. Skull CT has been performed in patients with osteo-
petrosis. Internal carotid artery stenosis has been seen as a
result of documented bony overgrowth of the petrous
carotid canal.21 Doppler studies of the ophthalmic artery
have been used to document optic nerve encroachment and
impending blindness in infants.39 Cranial MRI shows thick-
ening of the calvaria, optic nerve atrophy, and optic canal
stenosis and may reveal enlarged ventricles.20
Laboratory Findings
Serum calcium, phosphate, and PTH levels are normal.
Newborns with malignant osteopetrosis may be

FIGURE 40-79  “Rugger jersey” spine in a 16-year-old patient with
osteopetrosis.
hypocalcemic and therefore may have clinical manifesta-
tions of hypocalcemia, such as seizures or hyperirritability.67
Alkaline phosphatase levels may be elevated, and acid phos-
phatase levels are elevated. In osteopetrosis associated with
renal tubular acidosis, plasma pH reveals metabolic acido-
sis.56 Hypokalemia may be present.
Prenatal Diagnosis
Prenatal diagnosis has been accomplished in the twenty-
fifth week of pregnancy with the use of fetal radiography,
which reveals sclerosis of osteopetrotic bone and metaphy-
seal splaying and clubbing of the femora.57 Ultrasonography
has also been used to identify affected fetuses.61 Prenatal
molecular genetic testing by linkage analysis has been used
in osteopetrosis with renal tubular acidosis and in malignant
osteopetrosis.62,73
Differential Diagnosis
Osteopetrosis must be differentiated from other sclerosing
bone conditions. In pyknodysostosis, anemia is not present,
whereas hypoplasia of the clavicles and distal phalanges
and mandibular changes (seen as a small chin) are evident.
In progressive diaphyseal dysplasia (Camurati-Engelmann
disease), anemia is not present and the ends of the bones
are not clubbed because the sclerosis involves only the
diaphysis. Pathologic fractures are not seen. Other, rarer
dysplasias, such as craniometaphyseal dysplasia, metaphy-
seal dysplasia (Pyle disease), and frontometaphyseal dyspla-
sia, can be confused with osteopetrosis. In none of these
conditions does anemia occur. Medical conditions that may
CHAPTER 40  Skeletal Dysplasias e429
produce osteosclerosis are metal poisoning, syphilis, and
myelofibrosis.
Treatment
Treatment for the congenital form of osteopetrosis is
directed at the life-threatening pancytopenia. In a European
study conducted from 1972 to 1988 comprising 33 patients
with autosomal recessive osteopetrosis, the probability of
survival to 6 years of age was approximately 30% for the
group.42 The risk for development of visual or hematologic
impairment in the first year of life was approximately 75%.
Patients with early hematologic impairment (i.e., before 3
months of age), especially when combined with early visual
impairment, had a very poor prognosis regarding life
expectancy.
Congenital osteopetrosis is treated by early bone marrow
transplantation to provide monocytic osteoclast precur-
sors.66 In 1975 Walker discovered that osteopetrosis in the
rat could be cured by transplanting osteoclast precursors
from bone marrow and spleen.78 This animal research led
to the ability to cure previously fatal malignant osteopetro-
sis by transplanting human bone marrow into an affected
infant. More recent data show that the 5-year disease-free
survival probability for genotype human leukocyte antigen
(HLA)–identical hematopoietic stem cell transplantation is
73%; for phenotype HLA-identical or one HLA antigen–
mismatch graft from a related donor, it is 43%; for a graft
from a matched unrelated donor, it is 40%; and for a graft
from an HLA-mismatch related donor, it is 24%.24 Myeloab-
lative chemotherapy before transplantation maximizes the
potential for success.66 Hypercalcemia may develop after
successful bone marrow transplantation because the osteo-
clasts resorb the excess bone.31 Several cases of severe pul-
monary hypertension occurring after stem cell transplantation
have been described in infants with osteopetrosis.71 Inves-
tigators have reported that although the skeletal manifesta-
tions of the disease are reversible after bone marrow
transplant, children with generalized neurodegeneration
continue to deteriorate.1
In successful bone marrow transplants, normalization of
the bone marrow occurs, with normal osteoclastic activity
seen on bone marrow biopsy. Bone marrow scintigraphy is
useful in confirming restoration of the marrow.74 Radio-
graphs of the long bones and hands show resolution of
the osteosclerosis and new normal bone formation with
remodeling.16,18,60
Umbilical cord blood transplantation has been reported
to be successful in the treatment of congenital osteopetro-
sis. The advantages of this approach are the ability to use
unrelated donors and a lower incidence of graft-versus-host
disease.51
The pharmacologic treatment of patients with osteope-
trosis is being investigated. There are a few reports of
successful treatment with prednisone,38 but more com-
monly steroid treatment improves the anemia but does
not reduce bone mass. Thyroid hormone therapy has
been shown to stimulate bone resorption.11 Calcitriol
in high doses has been reported to result in clinical
improvement.42 Interferon-γ has been used to allow bone
resorption by enhancing superoxide production.43,44 Blood
counts improved significantly, and bone marrow scans
e430 SECTION VII  Other Orthopaedic Disorders

demonstrated improved marrow production. However,

some patients cannot tolerate the side effects of interferon
and actually develop greater immunosuppression.49 Eryth-
ropoietin was used in an adult case of transfusion-dependent
osteopetrosis, with resultant improvement in red blood cell
and platelet counts.54 All these medical therapies ameliorate
osteopetrosis, but they do not cure the condition.42
Cranial nerve impingement is treated by neurosurgical
decompression of the bony impingement at the cranial
neural foramina. Because blindness may be prevented or
reversed by timely decompression of the optic nerves,
regular visual assessment should be performed routinely in
these patients.37 Upper airway obstruction may require
tracheostomy.72
A review of the anesthetic literature revealed increased
morbidity and mortality rates for children with malignant
osteopetrosis who were undergoing general anesthesia. Of
noteworthy concern, there is an increased risk of inability
to intubate the trachea in these pediatric patients.12

Orthopaedic Considerations
Fractures are treated by conventional methods, but they
may be slow to heal. Closed reduction and casting of most
pediatric tibial and upper extremity fractures lead to
healing.4 Internal fixation of fractures is technically demand-
ing, and intraoperative fractures can occur because the FIGURE 40-80  Spondylolysis of C2 in a 7-month-old boy with
osteopetrotic bone is difficult to drill or ream.63 Nonunions osteopetrosis.
may occur, particularly at the proximal femur, and recon-
structive osteotomy can fail if fixation is inadequate.8,69
Coxa vara is the most common orthopaedic deformity in
patients with benign osteopetrosis. The condition develops
as a result of multiple stress fractures of the femoral neck.
Although corrective osteotomy is difficult to perform
because of problems with internal fixation,45,53 valgus proxi-
mal femoral osteotomy remains the most successful proce-
dure for the treatment of coxa vara in symptomatic
children.4
Total joint arthroplasty of the hip has been performed in
patients with benign osteopetrosis who had symptomatic
nonunions of the subtrochanteric femur and premature
osteoarthritis.5,13,53 However, preparation of the femur is
extremely difficult because of the absence of the intramed-
ullary canal and the brittleness of the bone.35 Proximal tibial
osteotomy and total knee arthroplasty have also been per-
formed in adult patients with osteoarthritis; the technical
challenges are similar.15,68
Cervical and lumbar spondylolysis are commonly seen in
children with osteopetrosis (Fig. 40-80). Lumbar spondy-
lolysis may produce low back pain (Fig. 40-81). Progressive
spondylolisthesis does not occur. Conservative treatment
with orthoses can help reduce symptoms of pain.52 Scoliosis
has been described in osteopetrosis.8,80

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22. De Palma L, Tulli A, Maccauro G, et al: Fracture callus in osteo-
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29. Frattini A, Pangrazio A, Susani L, et al: Chloride channel clcn7
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31. Gerritsen EJ, Vossen JM, Fasth A, et al: Bone marrow transplanta-
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32. Glorieux FH, Pettifor JM, Marie PJ, et al: Induction of bone
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37. Hwang JM, Kim IO, Wang KC, et al: Complete visual recovery in
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39. Iqbal J: Assessment of blood flow velocities in the ophthalmic
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42. Key LL Jr, Ries WL: Osteopetrosis: the pharmaco-physiologic basis
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44. Key LL Jr, Rodriguiz RM, Willi SM, et al: Long-term treatment of
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45. King RE, Lovejoy JF: Familial osteopetrosis with coxa vara: a case
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46. Kinik H, Polat O, Yildiz Y, et al: Slipped capital femoral epiphysis
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47. Kocher MS, Kasser JR: Osteopetrosis, Am J Orthop 32:222, 2003.
48. Kornak U, Kasper D, Bosl MR, et al: Loss of the clc-7 chloride
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49. Kubo T, Tanaka H, Ono H, et al: Malignant osteopetrosis treated
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50. Letizia C, Taranta A, Migliaccio S, et al: Type II benign osteope-
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e432 SECTION VII  Other Orthopaedic Disorders
51. Locatelli F, Beluffi G, Giorgiani G, et al: Transplantation of cord
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52. Martin RP, Deane RH, Collett V, et al: Spondylolysis in children
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53. Matsuno T, Katayama N: Osteopetrosis and total hip arthroplasty:
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54. Meletis J, Samarkos M, Michali E, et al: Correction of anaemia
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55. Milgram JW, Jasty M: Osteopetrosis: a morphological study of
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Progressive Diaphyseal Dysplasia
(Camurati-Engelmann Disease)
Progressive diaphyseal dysplasia is a rare syndrome first
described by Camurati in 19225 and then by Engelmann in
1929.7 The dysplasia is characterized by widened fusiform
diaphyses, with excessive periosteal and endosteal new bone
formation occurring only in the diaphysis. The muscles and
subcutaneous tissue are atrophic and weak over the affected
area of the limb.9,19
Genetics
The disease is inherited as an autosomal dominant trait with
variable expressivity and reduced penetrance.23,26 Several
different mutations in transforming growth factor-β1 gene
on chromosome 19q13 have been found in patients with
Camurati-Engelmann disease.14,17 The nature of the exact
mutations does not correlate with the phenotypic severity
of disease.4 The prevalence is less than 1 per 1 million. The
disease has a slight male predominance.
Pathology
The bony cortex is markedly thickened, with some hyper-
trophy of the periosteum. Microscopic examination shows
an increase in the fibrous component of the periosteum.
There is marked osteoblastic and osteoclastic activity. The
trabeculae are thickened but otherwise normal. The medul-
lary cavity is slightly narrowed. Later in the disease, the
compact bone may change to cancellous bone. The bone
marrow is normal early on but later consists of loose
mesenchymal fibrous tissue with occasional foci of
hematopoiesis.6,22
Clinical Features
The disease usually manifests by 10 years of age. Involve-
ment of the long bones is bilateral and symmetric. The tibia
is the most frequently affected bone. Other common sites
of involvement, in order of frequency, are the femur, fibula,
humerus, radius, and ulna.8 As the disease progresses, the
 CHAPTER 40  Skeletal Dysplasias e433

skull, pelvis, and vertebrae may be affected, but the pha-
langes are rarely involved.12,15 Cranial involvement eventu-
ally occurs in 61% of patients, and bony thickening can
entrap cranial nerves or cause increased intracranial pres-
sure.26 Affected children are tall and thin, with spindly legs
(Fig. 40-82).
Bilateral leg pain usually is the presenting complaint.
Muscle weakness is common and becomes evident by a
delay in walking, inability to run, and fatigability. The child
often has a waddling gait. Lumbar hyperlordosis may be
present.
Other clinical findings include the following: delayed
puberty; hypogonadism; dry, hard skin; dental caries; and
ocular proptosis. The skull may be enlarged, with possible
frontal bossing. Bony encroachment on the cranial foramina
may cause cranial nerve impingement.
Radiographic Findings
The longer the disease is present, the more marked are the
radiographic findings. Initially, increased density and widen-
ing of the cortex of the diaphysis of the long bones are seen.

A B C

D
FIGURE 40-82  Camurati-Engelmann disease in a young boy. Clinical appearance at age 10 years (A) and again at age 18 years (B). Note
the asthenic habitus, lack of physical development, marked genu valgum, and external tibial torsion. C, Anteroposterior radiographs of
the tibiae at 7 years of age show diaphyseal sclerosis with both endosteal and periosteal thickening and relatively normal epiphyses and
metaphyses. D, A histologic section of specimen obtained at the time of osteotomy reveals thickened trabeculae with normal haversian
systems (original magnification ×100). (From Clawson DK, Loop JW: Progressive diaphyseal dysplasia [Engelmann disease], J Bone Joint
Surg Am 46:143, 1964.)
e434 SECTION VII  Other Orthopaedic Disorders
FIGURE 40-83  Anteroposterior radiograph of lower extremities in
a 6-year-old girl with Camurati-Engelmann disease. Irregularity
and thickening of femoral cortices are present.
The process begins in the midshaft and then extends in both
directions toward the metaphyses (see Fig. 40-82, C and D).
The physis and epiphysis are normal. The cortex is smooth
at first and becomes irregular later (Fig. 40-83). The diam-
eter of the diaphysis of the bone enlarges over time, with
narrowing of the medullary canal25 (Fig. 40-84). Secondary
anemia may develop as the canal becomes obliterated.
CT demonstrates the extent of the disease.16 Findings on
bone scans vary with the activity of the disease.25 Bone scan
results may be negative when the lesion is biologically qui-
escent or mature.18
MRI and CT have been used to assess compression of
the cranial nerves.2
Laboratory Findings
Blood alkaline phosphatase levels and urinary hydroxypro-
line excretion may be elevated. Hypocalcemia and hyper-
phosphatemia are seen occasionally.24 Serum osteocalcin
levels are elevated.10 Biochemical markers of bone turnover,
such as procollagen and bone alkaline phosphatase, have
been used to assess the activity of the disease.10 The sedi-
mentation rate may be elevated.
Differential Diagnosis
Camurati-Engelmann disease must be differentiated from
Caffey disease (infantile cortical hyperostosis). The pattern
of involvement is different for these two dysplasias.
Camurati-Engelmann disease involves the long bones in a
symmetric pattern, whereas Caffey disease affects the man-
dible, ribs, and clavicle asymmetrically. Camurati-Engelmann
disease is slowly progressive; in contrast, Caffey disease is
self-limiting. Finally, Caffey disease usually becomes evident
at an earlier age, possibly at birth and, on average, by 8
weeks of life.
Other diseases in the differential diagnosis include
fibrous dysplasia, heavy metal poisoning, and metaphyseal
and craniometaphyseal dysplasias. When only one bone is
involved in a child or an adolescent, the physician should
consider osteomyelitis, osteoid osteoma, osteoblastoma,
and Ewing sarcoma.
Treatment
No specific treatment exists for this dysplasia. Pain is
treated symptomatically with antiinflammatory medication.
Physical therapy exercises are performed to increase muscle
strength and maintain joint motion.
Corticosteroids have been helpful in controlling symp-
toms in patients who fail to respond to nonsteroidal antiin-
flammatory medications.11,20,21 Although the mechanism of
action of steroids remains unclear, histologic studies have
shown increased bone resorption and remodeling, with
increased osteoclastic activity and decreased lamellar
bone deposition.1 Usually, low-dose steroids are effective.
However, the risk and complications of long-term steroid
therapy in children should be carefully weighed. Deflazacort
has been successfully used with reportedly fewer side
effects.3
Bisphosphonates have been tried in affected patients, but
they have been found to worsen the bone pain.13
References
Progressive Diaphyseal Dysplasia (Camurati-Engelmann Disease)
1. Allen DI, Sanders AM, Northway WH, et al: Corticosteroids in
the treatment of Engelmann’s disease: progressive diaphyseal dys-
plasia, Pediatrics 46:523, 1970.
2. Applegate LJ, Applegate GR, Kemp SS, et al: MR of multiple
cranial neuropathies in a patient with Camurati–Engelmann
disease: case report, AJNR Am J Neuroradiol 12:557, 1991.
3. Bas F, Darendeliler F, Petorak I, et al: Deflazacort treatment in
progressive diaphyseal dysplasia (Camurati–Engelmann disease),
J Paediatr Child Health 35:401, 1999.
4. Campos-Xavier B, Saraiva JM, Savarirayan R, et al: Phenotypic
variability at the TGF-beta1 locus in Camurati–Engelmann disease,
Hum Genet 109:653, 2001.
5. Camurati M: Di un raro caso di osteite simmetrica ereditaria degli
arti inferiori, Chir Organi Mov 6:662, 1922.
6. Cohen J, States JD: Progressive diaphyseal dysplasia: report of a
case with autopsy findings, Lab Invest 5:492, 1956.
7. Engelmann G: Ein Fall von Osteopathia hyperostotica sclerotisans
multiplex infanitilis, Fortschr Geb Rontgenstr 39:1101, 1929.
8. Greenspan A: Sclerosing bone dysplasias: a target-site approach,
Skeletal Radiol 20:561, 1991.
9. Griffiths D: Engelmann’s disease, J Bone Joint Surg Br 38:312,
1956.

A B
FIGURE 40-84  Anteroposterior (AP) (A) and lateral (B) radiographs of left leg in a patient with Camurati-Engelmann disease reveal cortical
widening that is most noticeable in the midshaft of tibia and fibula. AP (C) and lateral (D) radiographs 7 years later show persistently
thick cortices.
10. Hernandez MV, Peris P, Guanabens M, et al: Biochemical markers
of bone turnover in Camurati–Engelmann disease: a report on four
cases in one family, Calcif Tissue Int 61:48, 1997.
11. Heymans O, Gebhart M, Alexiou J, et al: Camurati–Engelmann
disease: effects of corticosteroids, Acta Clin Belg 53:189, 1998.
12. Hundley JD, Wilson FC: Progressive diaphyseal dysplasia: review
of the literature and report of seven cases in one family, J Bone
Joint Surg Am 55:461, 1973.
13. Inaoka T, Shuke N, Sato J, et al: Scintigraphic evaluation of pami-
dronate and corticosteroid therapy in a patient with progressive
diaphyseal dysplasia (Camurati–Engelmann disease), Clin Nucl
Med 26:680, 2001.
14. Janssens K, Gershoni-Baruch R, Van Hul E, et al: Localisation of
the gene causing diaphyseal dysplasia Camurati–Engelmann to
chromosome 19q13, J Med Genet 37:245, 2000.
15. Johnston CE: Progressive diaphyseal dysplasia, Pediatr Orthop
7:133, 1984.
16. Kaftori JK, Kleinhaus U, Nevah Y, et al: Progressive diaphyseal
dysplasia (Camurati–Engelmann): radiographic follow-up and CT
findings, Radiology 164:777, 1987.
17. Kinoshita A, Saito T, Tomita H, et al: Domain-specific mutations
in TGFB1 result in Camurati–Engelmann disease, Nat Genet
26:19, 2000.
18. Kumar B, Murphy WA, Whyte MP, et al: Progressive diaphyseal
dysplasia (Engelmann’s disease): scintigraphic-radiographic-clinical
correlations, Radiology 140:87, 1981.
19. Lennon EA, Schechter MM, Hornabrook RW, et al: Engelmann’s
disease: report of a case with a review of the literature, J Bone Joint
Surg Br 43:273, 1961.
20. Lindstrom JA: Diaphyseal dysplasia (Engelmann) treated with cor-
ticosteriods, Birth Defects 10:504, 1974.
21. Minford AM, Hardy GJ, Forsythe WI, et al: Engelmann’s disease
and the effect of corticosteroids: a case report, J Bone Joint Surg
Br 63:597, 1981.
CHAPTER 40  Skeletal Dysplasias e435
C D
22. Mottram ME, Hill HA: Diaphyseal dysplasia: report of a case, AJR
Am J Roentgenol 95:162, 1965.
23. Naveh Y, Kaftori JK, Alon U, et al: Progressive diaphyseal dyspla-
sia: genetics and clinical and radiologic manifestations, Pediatrics
74:399, 1984.
24. Smith R, Walton RJ, Corner BD, et al: Clinical and biochemical
studies in Engelmann’s disease (progressive diaphyseal dysplasia),
Q J Med 46:273, 1977.
25. Vidal-Sicart S, Pons F, Guanabens N, et al: Bone scan in Camurati–
Engelmann disease, Clin Nucl Med 23:237, 1998.
26. Wallace SE, Lachman RS, Mikikian PB, et al: Marked phenotypic
variability in progressive diaphyseal dysplasia (Camurati–
Engelmann disease): report of a four-generation pedigree, identifi-
cation of a mutation in TGFB1, and review, Am J Med Genet A
129:235, 2004.
Osteopoikilosis
The bone dysplasia osteopoikilosis is characterized by mul-
tiple asymptomatic oval or round radiodensities in cancel-
lous bone (Fig. 40-85).
Genetics
Osteopoikilosis is inherited as an autosomal dominant trait,
with a prevalence of less than 0.1 per 1 million.2 The condi-
tion is believed to result from loss-of-function mutations in
the LEMD3 gene, which encodes an inner nuclear mem-
brane protein.10
e436 SECTION VII  Other Orthopaedic Disorders
Pathology
On histologic examination the nodules associated with
osteopoikilosis consist of laminated bone that merges with
the surrounding spongiosa. The sclerotic densities corre-
spond to old and inactive remodeling of spongy trabeculae
in epiphyseal and metaphyseal locations.13 The histologic
appearance of the sclerotic nodules is identical to that of
bone islands.9
FIGURE 40-85  Osteopoikilosis of the proximal femora. Note the
numerous sclerotic fossae in the epiphyses and metaphyses.
A B
FIGURE 40-86  Multiple small, round radiodensities in the carpals and metacarpals (A) and feet (B) of a teenager with osteopoikilosis.
Clinical Features
In approximately 10% of cases, small, white to yellow
dermal or subcutaneous nodules are seen. When osteopoi-
kilosis and skin lesions are present, the term dermatofibrosis
lenticularis disseminata or Buschke-Ollendorff syndrome
is used.8,18
Some patients have features of osteopoikilosis as well as
melorheostosis or osteopathia striata. The coexistence of
two or more sclerosing conditions in one patient has been
termed mixed sclerosing bone dysplasia.3,4,16,17 The coexis-
tence of osteopoikilosis and melorheostosis in the same
patients and the same families raises the possibility that
the two diseases result from related mutations of the
LEMD3 gene.10,15
The condition is asymptomatic.
Radiographic Findings
The lesions of osteopoikilosis usually range from 2 to 10 mm
and are found in clusters in the metaphyseal and epiphyseal
regions of long bones and, rarely, in the diaphyses. The
cortex of the bone is uninvolved. The most frequent loca-
tions are the carpals, the tarsals, the ends of long tubular
bones, the acetabulum, and the hand11,12,19 (Fig. 40-86).
Involvement of the bones tends to be symmetric.6 The
radiodensities may be noted at birth or during skeletal
growth.
Differential Diagnosis
Osteopoikilosis may be confused on radiographs with bone
metastases, particularly in adults.5,7 Results of bone scans
may be negative, or the scans may show increased uptake
in patients with osteopoikilosis.21 When the result of a bone

scan is positive, the scan cannot be used to differentiate
between the dysplasia and tumor.17 A positive family history
confirms osteopoikilosis.20
Clinical Course
The clinical course of osteopoikilosis is variable. The scle-
rotic lesions may increase in size, diminish, or even disap-
pear over time. Pathologic fractures do not occur. No
treatment is required. Osteopoikilosis occasionally has been
associated with hereditary multiple exostosis. Rare cases of
malignant change in osteopoikilosis have been described.1,14
A case of spinal stenosis in a patient with osteopoikilosis has
been reported.22
References
Osteopoikilosis
1. Ayling RM, Evans PE: Giant cell tumor in a patient with osteopoi-
kilosis, Acta Orthop Scand 59:74, 1988.
2. Benli IT, Akalin S, Boysan E, et al: Epidemiological, clinical and
radiological aspects of osteopoikilosis [published erratum appears
in J Bone Joint Surg Br 76:683, 1994], J Bone Joint Surg Br 74:504,
1992.
3. Butkus CE, Michels VV, Lindor NM, et al: Melorheostosis in a
patient with familial osteopoikilosis, Am J Med Genet 72:43, 1997.
4. Cantatore FP, Carrozzo M, Loperfido MC, et al: Mixed sclerosing
bone dystrophy with features resembling osteopoikilosis and osteo-
pathia striata, Clin Rheumatol 10:191, 1991.
5. Carpintero P, Abad JA, Serrano P, et al: Clinical features of ten
cases of osteopoikilosis, Clin Rheumatol 23:505, 2004.
6. Chigira M, Kato K, Mashio K, et al: Symmetry of bone lesions in
osteopoikilosis: report of 4 cases, Acta Orthop Scand 62:495,
1991.
7. Ghandur-Mnaymneh L, Broder LE, Mnaymneh WA: Lobular car-
cinoma of the breast metastatic to bone with unusual clinical,
radiologic, and pathologic features mimicking osteopoikilosis,
Cancer 53:1801, 1984.
8. Giro MG, Duvic M, Smith LT, et al: Buschke–Ollendorff syn-
drome associated with elevated elastin production by affected skin
fibroblasts in culture, J Invest Dermatol 99:129, 1992.
9. Greenspan A: Sclerosing bone dysplasias: a target-site approach,
Skeletal Radiol 20:561, 1991.
10. Hellemans J, Preobrazhenska O, Willaert A, et al: Loss-of-function
mutations in LEMD3 result in osteopoikilosis, Buschke–Ollendorff
syndrome and melorheostosis, Nat Genet 36:1213, 2004.
11. Hinkel CL: Developmental affections of the skeleton character-
ized by osteosclerosis, Clin Orthop Relat Res 9:91, 1957.
12. Kobus RJ, Lubbers LM, Coleman CR, et al: Connective tissue
nevus and osteopoikilosis in the hand: the Buschke–Ollendorff
syndrome, J Hand Surg Am 14:535, 1989.
13. Lagier R, Mbakop A, Bigler A, et al: Osteopoikilosis: a radiological
and pathological study, Skeletal Radiol 11:161, 1984.
14. Mindell ER, Northup CS, Douglass HO Jr, et al: Osteosarcoma
associated with osteopoikilosis, J Bone Joint Surg Am 60:406, 1978.
15. Nevin NC, Thomas PS, Davis RI, et al: Melorheostosis in a family
with autosomal dominant osteopoikilosis, Am J Med Genet 82:409,
1999.
16. Ostrowski DM, Gilula LA: Mixed sclerosing bone dystrophy pre-
senting with upper extremity deformities: a case report and review
of the literature, J Hand Surg Br 17:108, 1992.
17. Pacifici R, Murphy WA, Teitelbaum SL, et al: Mixed-sclerosing-
bone-dystrophy: 42-year follow-up of a case reported as osteope-
trosis, Calcif Tissue Int 38:175, 1986.
18. Reinhardt LA, Rountree CB, Wilkin JK, et al: Buschke–Ollendorff
syndrome, Cutis 31:94, 1983.
CHAPTER 40  Skeletal Dysplasias e437
19. Rucker PT, Sundaram M: Radiologic case study: osteopoikilosis,
Orthopedics 19:357, 1996.
20. Sarralde A, Garcia-Cruz D, Nazara Z, et al: Osteopoikilosis: report
of a familial case, Genet Couns 5:373, 1994.
21. Tong EC, Samii M, Tchang F, et al: Bone imaging as an aid for the
diagnosis of osteopoikilosis, Clin Nucl Med 13:816, 1988.
22. Weisz GM: Lumbar spinal canal stenosis in osteopoikilosis, Clin
Orthop Relat Res 166:89, 1982.
Osteopathia Striata
Osteopathia striata is a dysplasia characterized by striations
in the metaphyseal regions of cancellous bone, with sclerosis
of the base and vault of the skull. It was first described by
Voorhoeve and named by Fairbank in 1924.7,8,21 Its preva-
lence is less than 0.1 per 1 million.
Genetics
The genetic mode of transmission is not yet definitively
decided. Some investigators believe the dysplasia is inher-
ited as an autosomal dominant trait.12,18,20 Others propose
an X-linked form of the disease associated with significant
cranial abnormalities in which boys are more severely
affected.2,3,17 The disease has a high degree of variability in
clinical expression.13-15,19
Clinical Features
Skull abnormalities lead to abnormal facies. The forehead
is high, with frontal bossing. A broad nasal bridge is present.
Cleft palate has been seen in patients with skull defor-
mity.15,22 Some patients are mentally retarded. The skeletal
lesions are asymptomatic.
Radiographic Findings
Usually one sees symmetric involvement of one bone or of
the entire skeleton.11 The striations are radiodense and par-
allel to the long axis of the bone9 (Fig. 40-87). They may
extend into the epiphysis. The most common sites are in
the long bones at areas of rapid growth.10 When present in
the ilia, the radiating lines have a “fanlike sunburst” appear-
ance. The pathognomonic feature of osteopathia striata is
sclerosis of the skull base.5 The bone striations do not
change with age.
Differential Diagnosis
The differential diagnosis includes osteopoikilosis, the auto-
somal dominant form of osteopetrosis, and hyperostosis
corticalis generalisata.1 Osteopathia striata may be present
in patients with mixed sclerosing bone dysplasias (see the
previous section, on osteopoikilosis).
Clinical Course
This disorder has no orthopaedic complications, and no
treatment is necessary. Visual impairment and deafness
as a result of cranial nerve impingement have been
reported.4,6,16
e438 SECTION VII  Other Orthopaedic Disorders
A B
FIGURE 40-87  Osteopathia striata. Anteroposterior radiographs of the upper (A) and lower (B) limbs show the striations parallel to the
longitudinal axis. These striations are especially marked in the metaphyseal areas.
References
Osteopathia Striata
1. Bass HN, Weiner JR, Goldman A, et al: Osteopathia striata syn-
drome: clinical, genetic and radiologic considerations, Clin Pediatr
(Phila) 19:369, 1980.
2. Behninger C, Rott HD: Osteopathia striata with cranial sclerosis:
literature reappraisal argues for X-linked inheritance, Genet Couns
11:157, 2000.
3. Bueno AL, Ramos FJ, Bueno O, et al: Severe malformations in
males from families with osteopathia striata with cranial sclerosis,
Clin Genet 54:400, 1998.
4. Clementi M, Bellato S, Rossetti A, et al: Is visual field reduction
a component manifestation of osteopathia striata with cranial scle-
rosis? Am J Med Genet 46:724, 1993.
5. Cortina H, Vallcanera A, Vidal J: Familial osteopathia striata with
cranial condensation, Pediatr Radiol 11:87, 1981.
6. De Keyser J, Bruyland M, De Greve J, et al: Osteopathia striata
with cranial sclerosis: report of a case and review of the literature,
Clin Neurol Neurosurg 85:41, 1983.
7. Fairbank HAT: A case of unilateral affection of the skeleton of
unknown origin, Br J Surg 12:594, 1925.
8. Fairbank HAT: Osteopathia striata, J Bone Joint Surg Br 32:117,
1950.
9. Gehweiler JA, Bland WR, Carden TS Jr, et al: Osteopathia striata:
Voorhoeve’s disease: review of the roentgen manifestations, Am J
Roentgenol Radium Ther Nucl Med 118:450, 1973.
10. Greenspan A: Sclerosing bone dysplasias: a target-site approach,
Skeletal Radiol 20:561, 1991.
11. Hinkel CL: Developmental affections of the skeleton character-
ized by osteosclerosis, Clin Orthop Relat Res 9:91, 1957.
12. Horan FT, Beighton PH: Osteopathia striata with cranial sclerosis:
an autosomal dominant entity, Clin Genet 13:201, 1978.
13. Keymolen K, Bonduelle M, De Maeseneer M, et al: How to
counsel in osteopathia striata with cranial sclerosis, Genet Couns
8:207, 1997.
14. Koenig WJ: Index of suspicion. Case 3. Diagnosis: limb girdle
muscular dystrophy, Pediatr Rev 13:391, 393, 1992.
15. Kornreich L, Grunebaum M, Ziv N, et al: Osteopathia striata,
cranial sclerosis with cleft palate and facial nerve palsy, Eur J
Pediatr 147:101, 1988.
16. Odrezin GT, Krasikov N: CT of the temporal bone in a patient
with osteopathia striata and cranial sclerosis, AJNR Am J Neuro-
radiol 14:72, 1993.
17. Pellegrino JE, McDonald-McGinn DM, Schneider A, et al: Further
clinical delineation and increased morbidity in males with osteo-
pathia striata with cranial sclerosis: an X-linked disorder? Am J
Med Genet 70:159, 1997.
18. Robinow M, Unger F: Syndrome of osteopathia striata, macro-
cephaly, and cranial sclerosis, Am J Dis Child 138:821, 1984.
19. Savarirayan R, Nance J, Morris L, et al: Osteopathia striata with
cranial sclerosis: highly variable phenotypic expression within a
family, Clin Genet 52:199, 1997.
20. Schnyder PA: Osseous changes of osteopathia striata associated
with cranial sclerosis: an autosomal dominant entity, Skeletal
Radiol 5:19, 1980.
21. Voorhoeve N: L’image radiologique non encore decrite d’une
anomalie du squelette, Acta Radiol 3:407, 1924.
22. Winter R, Crawfurd Md’A, Meire HB, et al: Osteopathia striata
with cranial sclerosis: highly variable expression within a family
including cleft palate in two neonatal cases, Clin Genet 18:462,
1980.
Melorheostosis
Melorheostosis is a rare dysplasia characterized by “flowing”
hyperostosis of the cortex. The radiographic appearance has
been likened to “dripping wax down the side of a candle.”
The long bones of the extremities are most often involved,
followed by the short tubular bones of the hand, and finally

the spine. Unlike most of the other osteosclerotic dyspla-
sias, melorheostosis is not believed to be a genetic disorder.
Its prevalence is estimated at 1 per 1 million.
Etiology
The etiology of melorheostosis remains unknown. The
hyperostosis has a peculiar tendency to involve only one side
of the bone and follows a sclerotomal pattern.24 Theories
have been proposed linking melorheostosis to a peripheral
neuropathy resembling herpes zoster.17,30 Molecular genetic
studies have implicated abnormalities in β Ig-h3 in osteo-
blast differentiation in patients with melorheostosis.25
Overlap among osteopoikilosis, osteopathia striata, and
melorheostosis has suggested that LEMD3 gene mutations
may play a role in all three sclerosing bone dysplasias.12,19
Pathology
Pathologic examination of bone and soft tissue reveals no
pathognomonic features. Histologic study shows osteoscle-
rosis, with thickening of the bony trabeculae and narrowing
of the medullary cavity. An abundance of osteoid and
increased angiogenesis are noted. The presence of numerous
osteoclasts suggests a high rate of bone turnover.20 The
haversian canals are surrounded by thick and irregular
laminae. The bone appears primitive, particularly on the
periosteal surface. The abnormal bony deposition begins at
the proximal end of the bone and proceeds distally.17 The
bone marrow appears fibrous.7
Periosseous fibrosis of soft tissues is common. Fibrosis of
the skin and subcutaneous tissues is frequently noted. Peri-
articular calcifications or ossification may occur.14,50
FIGURE 40-88  Melorheostosis. Sclerosis is seen in the right hand, most prominently the second metacarpal. Sclerosis is also present in the
carpals and phalanges. The left hand is normal.
CHAPTER 40  Skeletal Dysplasias e439
Transforming growth factor-β has been immunolocalized
in periosteal fibroblasts and in the mesenchymal cells sur-
rounding vessels in areas of involvement.20
Clinical Features
The disease usually becomes apparent in childhood or ado-
lescence. Presenting complaints consist of soft tissue con-
tracture and fibrosis in children and bone pain in adolescents
and adults. The disease may affect one bone, one limb, or
multiple sites. The most frequent sites of involvement are
the long bones of the lower extremity.16
Limitation of joint motion is present in all patients. Con-
tractures result from periarticular calcification, soft tissue
fibrosis, and bony deformity. Flexion contractures of the
hips and knees, abduction contractures of the hips leading
to pelvic obliquity, equinus, and varus or valgus of the feet
are all seen.41 Genu valgum may be present. Finger and toe
flexion contractures also occur.3,35,36,40,43 Melorheostosis of
the hand can lead to carpal tunnel syndrome, even in young
children.5,6,8
The affected limb appears enlarged. Leg length inequal-
ity is common, but the affected extremity may be longer or
shorter.
The soft tissue is tense, thickened, and shiny or ery-
thematous. The underlying subcutaneous tissue feels woody.
Radiographic Findings
The classic radiographic finding is asymmetric, irregular
osteosclerosis along the axes of the long bones (Figs. 40-88
and 40-89). A distinct border is seen between pathologic
and normal bone. In children the sclerosis in the long bones
e440 SECTION VII  Other Orthopaedic Disorders

is endosteal, whereas in adults it is subperiosteal or extra-

cortical. Epiphyseal sclerosis may be present in children
(Fig. 40-90).
Bone scintigraphy in melorheostosis shows increased
uptake with asymmetric cortical activity that may cross the
joints.11,15,26,45 Blood pool imaging on bone scans shows
increased tracer uptake.27 MRI shows low signal changes in
the involved bone. Soft tissue involvement can be readily
appreciated on MRI.31 Soft tissue masses can appear infiltra-
tive and may show mineralization.23

Clinical Course
The clinical course of melorheostosis is one of slow but
constant progression into adulthood.10 Several associated
conditions have been documented in patients with melorhe-
ostosis, including scleroderma,29,44,46 neurofibromatosis,
tuberous sclerosis,18 rheumatoid arthritis,47 and hemangi-
oma.17 Melorheostosis may be a component, along with
osteopoikilosis and osteopathia striata, in patients with
mixed sclerosing bone dysplasia.32,33,48
Vascular anomalies, including aneurysms and renal artery
stenosis, have been described in patients with melorheosto-
sis.1,13,21,34,39 Ischemia leading to amputation has been
reported.49
Malignant transformation has been described in isolated
FIGURE 40-89  Melorheostosis of the femur and tibia in an
18-year-old woman. The opposite limb is uninvolved. The left leg
cases.4,22
is shorter than the right.

C
FIGURE 40-90  Melorheostosis involving the tibia (A), tarsals (B), and feet (C) in a child. Epiphyseal sclerosis can be seen.

Differential Diagnosis
Osteomyelitis, osteopetrosis, osteopoikilosis, and osteo-
pathia striata should be considered in the differential diag-
nosis. The presence of joint contractures in an infant may
suggest arthrogryposis, but the radiographic appearance of
hyperostosis differentiates arthrogryposis from melorheos-
tosis. Soft tissue fibrosis resembles scleroderma. Limb pain
may mimic acute rheumatic fever or poliomyelitis. Malig-
nant diseases such as parosteal osteosarcoma must be
considered.
Treatment
Medical treatment is recommended to control the bone
pain.42
Orthopaedic Considerations
Orthopaedic management of the contractures is difficult.
Soft tissue contractures are resistant to release, and
recurrence of deformity after surgery is extremely
common.36 Manipulation, casting, soft tissue releases, cap-
sulotomies, and osteotomies have all resulted in a high
recurrence rate.49
Fixed contractures are treated by release, with extensive
capsulotomy and tendon resections rather than lengthening,
as in the treatment of arthrogryposis. Orthoses are used
after surgery to delay recurrence. Osteotomies may be
needed to correct deformity. Gradual correction of defor-
mity with the Ilizarov technique has been reported.2,9,28
Spinal involvement is rare. Isolated cases of back pain
and spinal stenosis with resultant myelopathy have been
reported.37,38
References
Melorheostosis
1. Applebaum RE, Caniano DA, Sun CC, et al: Synchronous left
subclavian and axillary artery aneurysms associated with melorhe-
ostosis, Surgery 99:249, 1986.
2. Atar D, Lehman WB, Grant AD, et al: The Ilizarov apparatus for
treatment of melorheostosis: case report and review of the litera-
ture, Clin Orthop Relat Res 281:163, 1992.
3. Azuma H, Sakada T, Tanabe H, et al: Melorheostosis of the hand:
a report of two cases, J Hand Surg Am 17:1076, 1992.
4. Baer SC, Ayala AG, Ro JY, et al: Case report 843: malignant fibrous
histiocytoma of the femur arising in melorheostosis, Skeletal
Radiol 23:310, 1994.
5. Barfred T, Ipsen T: Congenital carpal tunnel syndrome, J Hand
Surg Am 10:246, 1985.
6. Bostman OM, Bakalim GE: Carpal tunnel syndrome in a melorhe-
ostotic limb, J Hand Surg Br 10:101, 1985.
7. Campbell CJ, Papademetriou T, Bonfiglio M, et al: Melorheostosis:
a report of the clinical, roentgenographic, and pathological findings
in fourteen cases, J Bone Joint Surg Am 50:1281, 1968.
8. Caudle RJ, Stern PJ: Melorheostosis of the hand: a case report
with long-term follow-up, J Bone Joint Surg Am 69:1229, 1987.
9. Choi IH, Kim JI, Yoo WJ, et al: Ilizarov treatment for equinopla-
novalgus foot deformity caused by melorheostosis, Clin Orthop
Relat Res 414:238, 2003.
10. Colavita N, Nicolais S, Orazi C, et al: Melorheostosis: presentation
of a case followed up for 24 years, Arch Orthop Trauma Surg
106:123, 1987.
CHAPTER 40  Skeletal Dysplasias e441
11. Davis DC, Syklawer R, Cole RL, et al: Melorheostosis on three-
phase bone scintigraphy: case report, Clin Nucl Med 17:561, 1992.
12. de Goede E, Fagard R, Frijns JP, et al: Unique cause of renovascular
hypertension: melorheostosis associated with a malformation of
the renal arteries, J Hum Hypertens 10:57, 1996.
13. Debeer P, Pykels E, Lammens J, et al: Melorheostosis in a family
with autosomal dominant osteopoikilosis: report of a third family,
Am J Med Genet A 119:188, 2003.
14. Dissing I, Zafirovski G: Para-articular ossifications associated with
melorheostosis Leri, Acta Orthop Scand 50:717, 1979.
15. Drane WE: Detection of melorheostosis on bone scan, Clin Nucl
Med 12:548, 1987.
16. Freyschmidt J: Melorheostosis: a review of 23 cases, Eur Radiol
11:474, 2001.
17. Greenspan A: Sclerosing bone dysplasias: a target-site approach,
Skeletal Radiol 20:561, 1991.
18. Hall GS: A contribution to the study of melorheostosis: unusual
bone changes associated with tuberous sclerosis, Q J Med 12:77,
1943.
19. Hellemans J, Preobrazhenska O, Willaert A, et al: Loss-of-function
mutations in LEMD3 result in osteopoikilosis, Buschke–Ollendorff
syndrome and melorheostosis, Nat Genet 36:1213, 2004.
20. Hoshi K, Amizuka N, Kurokawa T, et al: Histopathological char-
acterization of melorheostosis, Orthopedics 24:273, 2001.
21. Iglesias JH, Stocks AL, Pena DR, et al: Renal artery stenosis associ-
ated with melorheostosis, Pediatr Nephrol 8:441, 1994.
22. Ippolito V, Mirra JM, Motta C, et al: Case report 771: melorhe-
ostosis in association with desmoid tumor, Skeletal Radiol 22:284,
1993.
23. Judkiewicz AM, Murphey MD, Resnick CS, et al: Advanced
imaging of melorheostosis with emphasis on MRI, Skeletal Radiol
30:447, 2001.
24. Kawabata H, Tsuyuguchi Y, Kawai H, et al: Melorheostosis of the
upper limb: a report of two cases, J Hand Surg Am 9:871, 1984.
25. Kim JE, Kim EH, Han EH, et al: A TGF-beta-inducible cell adhe-
sion molecule, betaig-h3, is downregulated in melorheostosis and
involved in osteogenesis, J Cell Biochem 77:169, 2000.
26. Kloos RT, Shreve P, Fig L, et al: Melorheostosis bone scintigraphy
and F-18 fluorodeoxyglucose positron emission tomography, Clin
Nucl Med 21:805, 1996.
27. Mahoney J, Achong DM: Demonstration of increased bone metab-
olism in melorheostosis by multiphase bone scanning, Clin Nucl
Med 16:847, 1991.
28. Marshall JH, Bradish CF: Callotasis in melorheostosis: a case
report, J Bone Joint Surg Br 75:155, 1993.
29. Moreno Alvarez MJ, Lazaro MA, Espada G, et al: Linear sclero-
derma and melorheostosis: case presentation and literature review,
Clin Rheumatol 15:389, 1996.
30. Murray RO, McCredie J: Melorheostosis and the sclerotomes:
a radiological correlation, Skeletal Radiol 4:57, 1979.
31. Osgood GM, Lee FY, Parisien MV, et al: Magnetic resonance
imaging depiction of tight iliotibial band in melorheostosis associ-
ated with severe external rotation deformity, limb shortening and
patellar dislocation in planning surgical correction, Skeletal Radiol
31:49, 2002.
32. Ostrowski DM, Gilula LA: Mixed sclerosing bone dystrophy pre-
senting with upper extremity deformities: a case report and review
of the literature, J Hand Surg Br 17:108, 1992.
33. Pacifici R, Murphy WA, Teitelbaum SL, et al: Mixed-sclerosing-
bone-dystrophy: 42-year follow-up of a case reported as osteope-
trosis, Calcif Tissue Int 38:175, 1986.
34. Patrick JH: Melorheostosis associated with arteriovenous aneu-
rysm of the left arm and trunk: report of a case with long follow-up,
J Bone Joint Surg Br 51:126, 1969.
35. Perlman MD: Melorheostosis: a case report and literature review,
J Foot Surg 29:353, 1990.
36. Pruitt DL, Manske PR: Soft tissue contractures from melorheos-
tosis involving the upper extremity, J Hand Surg Am 17:90, 1992.
e442 SECTION VII  Other Orthopaedic Disorders
37. Reznik M, Fried GW: Myelopathy associated with melorheostosis:
a case report, Arch Phys Med Rehabil 86:1495, 2005.
38. Robertson PA, Don AS, Miller MV, et al: Painful lumbosacral
melorheostosis treated by fusion, Spine 28:E234, 2003.
39. Roger D, Bonnetblanc JM, Leroux-Robert C, et al: Melorheostosis
with associated minimal change nephrotic syndrome, mesenteric
fibromatosis and capillary haemangiomas, Dermatology 188:166,
1994.
40. Rozencwaig R, Wilson MR, McFarland JB Jr, et al: Melorheostosis
of the skeletally immature hand: a case report and long-term
follow-up evaluation, J Hand Surg Am 21:703, 1996.
41. Rozencwaig R, Wilson MR, McFarland JB Jr, et al: Melorheostosis,
Am J Orthop 26:83, 1997.
42. Semble EL, Poehling GG, Prough DS, et al: Successful symptom-
atic treatment of melorheostosis with nifedipine, Clin Exp Rheu-
matol 4:277, 1986.
43. Sharma R, Burke FD: Melorheostosis of the hand, J Hand Surg Br
21:413, 1996.
44. Siegel A, Williams H: Linear scleroderma and melorheostosis, Br
J Radiol 65:266, 1992.
45. Spieth ME, Greenspan A, Forrester DM, et al: Radionuclide
imaging in forme fruste of melorheostosis, Clin Nucl Med 19:512,
1994.
46. Thompson NM, Allen CEI, Andres GS, et al: Scleroderma and
melorheostosis, J Bone Joint Surg Br 33:430, 1951.
47. Todesco S, Bedendo A, Punzi L, et al: Melorheostosis and rheuma-
toid arthritis, Clin Exp Rheumatol 1:349, 1983.
48. Whyte MP, Murphy WA, Fallon MD, et al: Mixed-sclerosing-bone-
dystrophy: report of a case and review of the literature, Skeletal
Radiol 6:95, 1981.
49. Younge D, Drummond D, Herring J, et al: Melorheostosis in chil-
dren: clinical features and natural history, J Bone Joint Surg Br
61:415, 1979.
50. Yu JS, Resnick D, Vaughan LM, et al: Melorheostosis with an
ossified soft tissue mass: MR features, Skeletal Radiol 24:367,
1995.
Infantile Cortical Hyperostosis
(Caffey Disease)
Infantile cortical hyperostosis (Caffey disease) is a self-
limiting disorder characterized by soft tissue swelling,
subperiosteal new bone formation, cortical thickening of
underlying bones, fever, and irritability.5 Classically, the
onset of the disease occurs before the fifth month of life,
with resolution by 3 years of age. A distinct form of Caffey
disease with prenatal onset has also been characterized.26
Rare cases of documented cortical hyperostosis in older
children resemble Caffey disease in every way.16
Genetics
The occurrence of the disease in isolated cases or in mul-
tiple members in families suggests that three different types
exist: a sporadic form, a familial form, and a prenatal form.29
Reported cases of the sporadic form are becoming less
common.25 In the sporadic form mostly the mandible is
affected, whereas in the familial form the tibia is the pre-
dominant bone affected.3 The familial form is inherited as
an autosomal dominant trait with variable penetrance,1,11
and it is the result of a novel missense mutation in COL1A1,
the gene that encodes the α1 chain of type I collagen.13
This is the same gene that is abnormal in patients with
osteogenesis imperfecta. The age at onset in the familial
form is younger than in the sporadic form; the familial form
manifests in approximately 24% of patients at birth.25 An
even more severe autosomal recessive form may exist that
begins in the prenatal period.10 Infants with prenatal evi-
dence of Caffey disease can be divided into two groups.
First, a severe form with onset before 35 weeks of gestation
is associated with polyhydramnios, lung disease, and prema-
turity. Early-onset prenatal Caffey disease is usually lethal.
A second form with onset after 35 weeks of gestation is not
associated with systemic complications.26 Inheritance in the
prenatal form can be either autosomal dominant or
recessive.
Pathology
In the early stages of the disease, a marked inflammatory
process involves the periosteum and adjacent soft tissues.
Gradually the inflammation subsides, leaving a thickened
periosteum and subperiosteal immature lamellar bone. Vas-
cular fibrous tissue occupies the bone marrow space (Fig.
40-91). Biopsy of more mature bony lesions reveals only
hyperplasia of the lamellar cortical bone, without inflamma-
tion or subperiosteal hemorrhage.9,19,28
Clinical Features
The average age at presentation is 9 weeks, and almost all
cases are apparent by 5 months of age. The disease may be
present at birth.
In the sporadic form, the mandible is the most common
site of involvement, with mandibular abnormality present
in 75% to 80% of cases. The most common clinical mani-
festations at presentation are hyperirritability and the pres-
ence of a local mass, often over the mandible. The swelling
appears suddenly, is deep and firm, and may be tender. No
local heat or redness are noted. Fever may be present, and
the erythrocyte sedimentation rate and serum alkaline
phosphatase level are elevated, thus mimicking infection.
Affected infants may refuse to eat because of mandibular
pain, and failure to thrive may develop.27 Anemia may be
present.
Of the limbs, the ulna and tibia are most frequently
involved. The tibia is most often affected in the familial
form of the disease. Next in frequency of involvement are
the clavicles, scapulae, and ribs. The humerus, femur, and
fibula are less often involved. Occasional involvement of the
skull, ilium, and metatarsals has been described.14,15 Multi-
focal involvement is common, but the disease usually is
asymmetric.12,17
Late recurrence or persistence of symptoms with defor-
mity is rare.2,3,21,30
Radiographic Findings
The characteristic finding on plain radiographs is the forma-
tion of periosteal new bone engulfing the diaphysis but not
the epiphysis of the existing bone. The diameter of the bone
increases. Soft tissue swelling is evident. Over time the
periosteal bone increases in density and becomes homoge-
neous with the underlying cortex. Over months to years the
appearance of the bone becomes normal20 (Fig. 40-92).
 CHAPTER 40  Skeletal Dysplasias e443

A B
FIGURE 40-91  Infantile cortical hyperostosis, pathologic findings. A, Histologic section. Note the thickened periosteum with underlying
immature bone. B, Photomicrograph showing the filling of marrow spaces with vascular fibrous tissue. (From Staheli LT, Church CC, Ward
BH: Infantile cortical hyperostosis [Caffey disease], JAMA 203:98, 1968.)

The MRI appearance of Caffey disease has been

described.23 Marked periosteal reaction appears as a dis-
cretely visualized area of even thickness and intermediate
signal intensity encircling the femoral diaphysis. Marked
edema and swelling of the adjacent soft tissues of the peri-
osteal segment are also present. MRI provides excellent
images for differentiating bony and soft tissue structures
and for evaluating the extent of soft tissue involvement, but
it has no additional value in clinical management.24
Prenatal Diagnosis
Prenatal diagnosis of the prenatal form of Caffey disease is
possible with ultrasonography. The ultrasonographic appear-
ance resembles that of osteogenesis imperfecta.18
Differential Diagnosis
The condition may be mistaken for osteomyelitis or child
abuse.33 Congenital syphilis and hypervitaminosis A may
also resemble Caffey disease34 (Table 40-3). Other diseases
in the differential diagnosis include scurvy, Ewing sarcoma,
and metastatic neuroblastoma.
The administration of prostaglandin E in young infants
with cardiac malformations has been shown to produce
periosteal reaction with new bone formation.36,37 The hyper-
ostosis associated with the use of prostaglandin can be dif-
ferentiated from Caffey disease by the site of involvement.
With prostaglandin-associated hyperostosis the mandible is
not affected, whereas in Caffey disease the mandible is
most often involved.22

Diagnosis
The diagnosis of prenatal-onset Caffey disease should be
considered in infants with short, angulated long bones with
irregular and echodense diaphyses but no fractures. The
lack of fractures distinguishes this condition from osteogen-
esis imperfecta.7 The diagnostic features of infantile cortical
hyperostosis are specific: (1) the narrow age range for pre-
sentation (between birth and 5 months of age); (2) the triad
of irritability, swelling, and bone lesions; and (3) mandibular
involvement. Laboratory tests may help rule out other con-
ditions. Biopsy of the lesion usually is not indicated.
However, when the possibility of malignancy cannot be
ruled out, biopsy may be necessary.
Treatment
No specific treatment exists for Caffey disease. Corticoste-
roids are effective in alleviating the acute systemic manifes-
tations but do not change the bony lesions. Steroid treatment
is reserved for infants with extensive disease.4 Nonsteroidal
antiinflammatory medication was used successfully to treat
a child with recurrent Caffey disease.32
Orthopaedic Considerations
Residual deformity may result from severe disease with
intermittent recurrences. The medullary canal may remain
expanded, with thinning of the cortex. Fusion of the ribs,
e444 SECTION VII  Other Orthopaedic Disorders

A B C

E
FIGURE 40-92  A, Radiograph of a 3-month-old boy with Caffey disease in the upper extremity. B, Radiograph obtained 1 month later
shows maturation of the periosteal new bone. C, Follow-up radiograph obtained at 7 months of age is negative. D, Involvement of the
tibia was also present at 3 months of age. E, At 7 months of age, the right tibia remains widened compared with the left.
 CHAPTER 40  Skeletal Dysplasias e445

Table 40-3  Features Distinguishing Infantile Cortical Hyperostosis and

Hypervitaminosis A
Features Infantile Cortical Hyperostosis Hypervitaminosis A

Age at onset Birth-6 mo ≥1 yr

Involvement of mandible Present (almost always) Universally absent
Metatarsal involvement Rare Usual
Fever Present Absent
Cortical hyperostosis Present Present
Tender soft tissue swelling Present Present
Vitamin A level Normal Elevated
Response to low-vitamin None Amelioration of symptoms
diet within 1 mo
Response to corticosteroid Alleviation of acute systemic No response
therapy manifestations
Inheritance Possibly autosomal dominant Nonhereditary

the tibia and fibula, and the radius and ulna has been
described. The radial head may dislocate. Leg length
inequality may result from asymmetric involvement.16,28,31
Clinical Course
The disease is self-limiting, and complete recovery within
6 to 9 months can usually be expected. Spontaneous remis-
sions may occur. On rare occasions, death may occur in the
severe prenatal form of Caffey disease.8,35 Indomethacin has
been described in the treatment of infants with Caffey
disease.6
References
Infantile Cortical Hyperostosis (Caffey Disease)
1. Bernstein RM, Zaleske DJ: Familial aspects of Caffey’s disease,
Am J Orthop 24:777, 1995.
2. Blank E: Recurrent Caffey’s cortical hyperostosis and persistent
deformity, Pediatrics 55:856, 1975.
3. Borochowitz Z, Gozal D, Misselevitch I, et al: Familial Caffey’s
disease and late recurrence in a child, Clin Genet 40:329, 1991.
4. Bush LG, Merrell OE: Infantile cortical hyperostosis: report of a
case responding to treatment with corticotropin, J Pediatr 40:330,
1952.
5. Caffey J, Silverman WA: Infantile cortical hyperostosis: prelimi-
nary report in a new syndrome, AJR Am J Roentgenol 54:1, 1945.
6. Couper RT, McPhee A, Morris L, et al: Indomethacin treatment
of infantile cortical periostosis in twins, J Paediatr Child Health
37:305, 2001.
7. Dahlstrom JE, Arbuckle SM, Kozlowski K, et al: Lethal prenatal
onset infantile cortical hyperostosis (Caffey disease), Pathology
33:521, 2001.
8. de Jong G, Muller LM: Perinatal death in two sibs with infantile
cortical hyperostosis (Caffey disease), Am J Med Genet 59:134,
1995.
9. Dickson DD, Luckey CA, Logan NH, et al: Infantile cortical
hyperostosis, J Bone Joint Surg Am 29:224, 1947.
10. Drinkwater BM, Crino JP, Garcia J, et al: Recurrent severe infan-
tile cortical hyperostosis (Caffey disease) in siblings, Prenat Diagn
17:773, 1997.
11. Emmery L, Timmermans J, Christens J, et al: Familial infantile
cortical hyperostosis, Eur J Pediatr 141:56, 1983.
12. Finsterbush A, Rang M: Infantile cortical hyperostosis: follow-up
of 29 cases, Acta Orthop Scand 46:727, 1975.
13. Gensure RC, Makitie O, Barclay C, et al: A novel COL1A1 muta-
tion in infantile cortical hyperostosis (Caffey disease) expands the
spectrum of collagen-related disorders, J Clin Invest 115:1250,
2005.
14. Harris VJ, Ramilo J: Caffey’s disease: a case originating in the first
metatarsal and review of a 12 year experience, AJR Am J Roent-
genol 130:335, 1978.
15. Holtzman D: Infantile cortical hyperostosis of the scapula present-
ing as an ipsilateral Erb’s palsy, J Pediatr 81:785, 1972.
16. Jackson DR, Lyne ED: Infantile cortical hyperostosis: case report,
J Bone Joint Surg Am 61:770, 1979.
17. Jones ET, Hensinger RN, Holt JF, et al: Idiopathic cortical hyper-
ostosis, Clin Orthop Relat Res 163:210, 1982.
18. Lecolier B, Bercau G, Gonzales M, et al: Radiographic, haemato-
logical, and biochemical findings in a fetus with Caffey disease,
Prenat Diagn 12:637, 1992.
19. Mossberger JI: Infantile cortical hyperostosis: report of a
case with observations at autopsy, Am J Dis Child 80:610,
1950.
20. Padfield E, Hicken P: Cortical hyperostosis in infants: a radiological
study of sixteen patients, Br J Radiol 43:231, 1970.
21. Pajewski M, Vure E: Late manifestations of infantile cortical hyper-
ostosis (Caffey’s disease), Br J Radiol 40:90, 1967.
22. Poznanski AK, Fernbach SK, Berry TE: Bone changes from pros-
taglandin therapy, Skeletal Radiol 14:20, 1985.
23. Saatci I, Brown JJ, McAlister WH: MR findings in a patient
with Caffey’s disease [see comments], Pediatr Radiol 26:68,
1996.
24. Sanders DG, Weijers RE: MRI findings in Caffey’s disease, Pediatr
Radiol 24:325, 1994.
25. Saul RA, Lee WH, Stevenson RE: Caffey’s disease revisited:
further evidence for autosomal dominant inheritance with incom-
plete penetrance, Am J Dis Child 136:55, 1982.
26. Schweiger S, Chaoui R, Tennstedt C, et al: Antenatal onset of
cortical hyperostosis (Caffey disease): case report and review, Am
J Med Genet A 120:547, 2003.
27. Sheppard JJ, Pressman H: Dysphagia in infantile cortical hyperos-
tosis (Caffey’s disease): a case study, Dev Med Child Neurol
30:111, 1988.
e446 SECTION VII  Other Orthopaedic Disorders

28. Sherman MS, Hellyer DT: Infantile cortical hyperostosis: review

of the literature and report of five cases, AJR Am J Roentgenol
63:212, 1950.
29. Sidbury JB Jr, Sidbury JB: Infantile cortical hyperostosis: an
inquiry into the etiology and pathogenesis, N Engl J Med 250:309,
1954.
30. Swerdloff BA, Ozonoff MB, Gyepes MT, et al: Late recurrence of
infantile cortical hyperostosis (Caffey’s disease), Am J Roentgenol
Radium Ther Nucl Med 108:461, 1970.
31. Tampas JP, Van Buskirk P, Peterson O, et al: Infantile cortical
hyperostosis, JAMA 175:491, 1961.
32. Thometz JG, Di Raimondo CA: A case of recurrent Caffey’s
disease treated with naproxen, Clin Orthop Relat Res 323:304,
1996.
33. Tien R, Barron BJ, Dhekne RD: Caffey’s disease: nuclear medicine
and radiologic correlation: a case of mistaken identity, Clin Nucl FIGURE 40-93  Clinical appearance of the hands of a child with
Med 13:583, 1988. pyknodysostosis.
34. Toohey JS: Skeletal presentation of congenital syphilis: case report
and review of the literature, J Pediatr Orthop 5:104, 1985.
35. Turnpenny PD, Davidson R, Stockdale EJ, et al: Severe prenatal
infantile cortical hyperostosis (Caffey’s disease), Clin Dysmorphol
2:81, 1993.
36. Ueda K, Saito A, Nakano H, et al: Cortical hyperostosis following
long-term administration of prostaglandin E1 in infants with cya-
notic congenital heart disease, J Pediatr 97:834, 1980.
37. Williams JL: Periosteal hyperostosis resulting from prostaglandin
therapy, Eur J Radiol 6:231, 1986.

Pyknodysostosis
Pyknodysostosis was first described by Maroteaux and
Lamy in 1962.14,15 The term pyknodysostosis was derived
from the Greek words pycnos (meaning “thick” or “dense”),
dys (meaning “defective”), and osteon (meaning “bone”).
The dysplasia enjoys the celebrity of counting the French
painter Henri de Toulouse Lautrec (1864 to 1901) among
those affected.

Genetics
Pyknodysostosis is inherited as an autosomal recessive trait.
The locus for the dysplasia has been mapped to chromo-
some 1q21.7,18 Mutations in this region lead to cathepsin K
deficiency. Cathepsin K is a cysteine protease that is highly
expressed in osteoclasts.8 The estimated prevalence of pyk- FIGURE 40-94  Clinical appearance of a girl with pyknodysostosis.
nodysostosis is 1 per 1 million. Her chin is very small.

Pathology
The mechanism for the development of the diffuse sclerotic
process associated with pyknodysostosis is not clearly
understood.12 Findings from microscopic examination of
bone biopsy specimens are similar to those seen in osteope-
trosis.4 Meredith and associates proposed that normal
osteoblasts and osteoclasts fail to respond as they should to
the demands of stress on the bone.16 Although osteoclasts
are present, they do not appear to function properly in
resorbing bone. At fracture sites, all cellular elements of
fracture repair are present.13,16
Clinical Features
This dysplasia is characterized by short-limbed short stature.
Patients have hypoplasia or absence of the lateral portion of
the clavicles, as well as hypoplasia of the terminal phalanges
of the digits (termed acro-osteolysis) that leads to short,
stubby hands with large fingernails (Fig. 40-93). The skull
has widened sutures and persistent open fontanelles, even
into adulthood. The mandible is small, and the angle of the
mandible is described as obtuse, leading to a very small chin
(Fig. 40-94). The nose is protuberant. The teeth are delayed
in appearance and disordered when present.5,10,17
Radiographic Findings
Radiographs show generalized osteosclerosis. The medullary
canal is always present, but it is small and irregular. Spinal
radiographs may show failure of segmentation of the atlas
from the axis and again in the lower lumbar spine. Spondy-
lolisthesis and spondylolysis are common1,4,6 (Fig. 40-95).
 CHAPTER 40  Skeletal Dysplasias e447

Hand radiographs show the hypoplasia or resorption of the

distal phalanges.
The sclerotic bone has a propensity to fracture, usually
in the lower extremities. The fracture lines are characteris-
tically transverse on radiographs and are located in the
middle diaphysis. Comminution is not seen.4
Bone formation and resorption are simultaneously dimin-
ished. Bone densitometry showed values up to 291% of
those of age-matched normal control subjects (the increased
bone density was mainly in the trabecular bone and not in
the cortical bone). MRI studies showed the cortex to be of
normal thickness, whereas the space within the medullary
canal was limited as a result of the increase in trabecular
bone. Bone scan reveals increased uptake.13

Differential Diagnosis
The differential diagnosis includes osteopetrosis. Unlike
osteopetrosis, pyknodysostosis does not lead to aplastic
anemia because the medullary canal is partially preserved.19
FIGURE 40-95  Spondylolysis of L5 in pyknodysostosis.
Cleidocranial dysostosis may be considered because of the
hypoplasia of the clavicles; however, osteosclerosis is not
seen in cleidocranial dysostosis9 (Table 40-4). Rare condi-
tions that may be confused with pyknodysostosis are

Table 40-4  Features Distinguishing Pyknodysostosis, Osteopetrosis, and Cleidocranial Dysplasia

Features Pyknodysostosis Osteopetrosis Cleidocranial Dysplasia

Inheritance Autosomal recessive Congenital malignant type Autosomal dominant

Stature Short stature in short-limbed type
Prevalence <1 per million
Facies Micrognathia with obtuse
mandible, small maxilla;
delayed eruption of
disorganized teeth
Skull Dysplasia with widened sutures;
wormian bones
Persistent open fontanelles
No cranial foramina impingement
No cranial nerve palsy
Clavicle Hypoplastic, sometimes absent in
lateral portion
Hands and feet Hypoplasia or absence of terminal
phalanges of digits
Pelvis and hips Flattened femoral heads, short
and deformed femoral necks
Bone texture Osteosclerosis without obliteration
of intramedullary canals
Hematologic picture Normal
Liver and spleen Normal
(autosomal recessive)
Mild tarda type (autosomal
dominant)
Short in congenital type
Normal in tarda type
3 per million
Normal
Thickened vault, base
Cranial foramina impingement
with bone overgrowth
Cranial nerve palsy
Present and normal
Normal
Endobones and transverse
bands of increased and
decreased radiopacity
Coxa vara may be present
Osteosclerosis with obliteration
of intramedullary canals
Aplastic anemia
Hepatosplenomegaly
Usually normal
Sometimes minimal shortness
<1 per million
Low nasal bridge with bulging
frontal and parietal regions
Disordered eruption of teeth
Failure of fusion of mandibular
symphysis
Wormian bones
Open fontanelles in childhood
No cranial nerve palsy
Partially or completely absent
Normal
Wide symphysis pubis
Wide triradiate cartilages and
sacroiliac joints
Normal
Normal
Normal
e448 SECTION VII  Other Orthopaedic Disorders
progressive diaphyseal dysplasia (Camurati-Engelmann
disease) and idiopathic nonfamilial acro-osteolysis.9
Orthopaedic Considerations
Orthopaedic treatment consists of fracture care. Stress frac-
tures can occur with minimal trauma (Fig. 40-96). Fracture
FIGURE 40-96  Stress fracture of the tibia in osteosclerotic bone of
a child with pyknodysostosis.
A B
FIGURE 40-97  A, Spondylolysis of C2 in a 2-year-old child with pyknodysostosis. B, The same child at 13 years of age. No treatment had
been performed.
healing has been reported as normal by some investiga-
tors,4,20 whereas others have reported that callus formation
is poor.16 Most stress fractures result in little if any pain,
even when they occur in weight-bearing bones.3
Spondylolysis may occur. Apparent spondylolysis at the
second cervical vertebra, resembling the “hangman’s frac-
ture,” results from clefts in the pedicles of C2 but rarely
leads to instability2,3 (Fig. 40-97).
Clinical Course
Life expectancy is normal. Adult height reaches 130 to
150 cm. Growth hormone has been used in physiologic
replacement doses to accelerate growth in these short
patients.21 Chronic osteomyelitis of the jaw occurs
frequently and is resistant to standard forms of
treatment.11,22
References
Pyknodysostosis
1. Beguiristain JL, Arriola FJ, Leyes M: Lumbar spine anomalies in a
pycnodysostosis case, Eur Spine J 4:320, 1995.
2. Currarino G: Primary spondylolysis of the axis vertebra (C2) in
three children, including one with pyknodysostosis, Pediatr Radiol
19:535, 1989.
3. Edelson JG, Obad S, Geiger R, et al: Pycnodysostosis: orthopedic
aspects with a description of 14 new cases, Clin Orthop Relat Res
280:263, 1992.
4. Elmore SM: Pycnodysostosis: a review, J Bone Joint Surg Am
49:153, 1967.
5. Ferguson JW, Brown RH, Cheong LY, et al: Pycnodysostosis associ-
ated with delayed and ectopic eruption of permanent teeth, Int J
Paediatr Dent 1:35, 1991.
6. Floman Y, Gomori JM, Fast A, et al: Isthmic spondylolisthesis in
pycnodysostosis, J Spinal Disord 2:268, 1989.
7. Gelb BD, Edelson JG, Desnick RJ, et al: Linkage of pycnodysos-
tosis to chromosome 1q21 by homozygosity mapping, Nat Genet
10:235, 1995.
 CHAPTER 40  Skeletal Dysplasias e449

8. Gelb BD, Shi GP, Chapman HA, et al: Pycnodysostosis, a lyso-

somal disease caused by cathepsin K deficiency, Science 273:1236,
1996.
9. Greenspan A: Sclerosing bone dysplasias: a target-site approach,
Skeletal Radiol 20:561, 1991.
10. Hunt NP, Cunningham SJ, Adnan N, et al: The dental, craniofacial,
and biochemical features of pyknodysostosis: a report of three new
cases, J Oral Maxillofac Surg 56:497, 1998.
11. Iwu CO: Bilateral osteomyelitis of the mandible in pycnodysosto-
sis: a case report, Int J Oral Maxillofac Surg 20:71, 1991.
12. Jacobson HG: Dense bone—too much bone: radiological consid-
erations and differential diagnosis. Part II, Skeletal Radiol 13:97,
1985.
13. Karkabi S, Reis ND, Linn S, et al: Pyknodysostosis: imaging and
laboratory observations, Calcif Tissue Int 53:170, 1993.
14. Maroteaux P, Lamy M: Deux observations d’une affection asseuse
condensante la pycnodysostose, Arch Fr Pediatr 19:267, 1962.
15. Maroteaux P, Lamy M: La pycnodysostose, Presse Med 20:99,
1962.
16. Meredith SC, Simon MA, Laros GS, et al: Pycnodysostosis: a
clinical, pathological, and ultramicroscopic study of a case, J Bone
Joint Surg Am 60:1122, 1978.
17. O’ Connell AC, Brennan MT, Francomano CA, et al: Pycnodysos-
tosis: orofacial manifestations in two pediatric patients, Pediatr
Dent 20:204, 1998.
18. Polymeropoulos MH, Ortiz de Luna RI, Ide SE, et al: The gene
for pycnodysostosis maps to human chromosome 1cen-q21, Nat
Genet 10:238, 1995.
FIGURE 40-98  Clinical appearance of a child with cleidocranial
19. Santhanakrishnan BR, Panneerselvam S, Ramesh S, et al: Pycno-
dysostosis.
dysostosis with visceral manifestation and rickets, Clin Pediatr
(Phila) 25:416, 1986.
20. Shuler SE: Pycnodysostosis, Arch Dis Child 38:620, 1963.
21. Soliman AT, Rajab A, Al Salmi I, et al: Defective growth hormone skull is wider than normal, but the face appears small; Fig.
secretion in children with pycnodysostosis and improved linear 40-98). The eyes are slightly wide-set. The palate is high
growth after growth hormone treatment, Arch Dis Child 75:242, and narrow. Deciduous teeth erupt normally, but perma-
1996. nent teeth are delayed. When they do appear, they are
22. van Merkesteyn JP, Bras J, Vermeeren JI, et al: Osteomyelitis of the
maldeveloped.
jaws in pycnodysostosis, Int J Oral Maxillofac Surg 16:615, 1987.
The shoulders look droopy, and the chest appears
narrow.14 Sternal abnormalities result from the abnormal
Cleidocranial Dysostosis intramembranous ossification, and pectus excavatum is
common.
Cleidocranial dysostosis was first described by Marie and One or both clavicles may be underdeveloped or missing
Sainton in 1898.10 It is a disorder in which the bones formed altogether.1 The most common defect is loss of the lateral
by intramembranous ossification (primarily the clavicles, end of the clavicle, with failure of development of the
cranium, and pelvis) are abnormal. The characteristic finding middle third of the clavicle second in frequency. The defect
in cleidocranial dysostosis is hypoplasia or absence of the may be palpable. When it is bilateral, the child can touch
clavicles. Although the most significant abnormalities are the shoulders together in front of the chest as a result of
seen in the bones formed by intramembranous ossification, hypermobility. The scapulae appear small, and winging may
enchondral growth is disturbed to a lesser degree, with be noticeable (Fig. 40-99).
resulting mild dwarfism. Patients with cleidocranial dysplasia are of short stature.
The average adult height in men ranges between the 5th
and 50th percentiles. Women have more significant dwarf-
Genetics
ism, with adult height less than the 5th percentile.7
Cleidocranial dysostosis is inherited as an autosomal domi-
nant trait. The gene responsible for the dysplasia is located
Radiographic Findings
on chromosome 6p21.2,9 The gene has been cloned and is
called CBFA1, an osteoblast-specific transcription factor Hypoplasia or absence of the clavicles is obvious on radio-
and a regulator of osteoblast differentiation.9 Approximately graphs (Fig. 40-100, A). Absence of the clavicles has even
two thirds of cases are familial and one third of cases consist been seen on prenatal ultrasonography.5,6
of new mutations.13 Skull radiographs show multiple wormian bones and
poor mineralization of the cranium. Closure of the sutures
is markedly delayed, and the anterior fontanelle is enlarged.
Clinical Features
In some patients the anterior fontanelle never closes. The
Typically the disease is identified within the first 2 years of nasal, lacrimal, and malar bones may be hypoplastic
life. Affected children have large heads with elfin faces (the or absent, and the zygomas are poorly developed. The
e450 SECTION VII  Other Orthopaedic Disorders

Spina bifida occulta may be present in the thoracic and

lumbar spine. Scoliosis is seen in this patient population.
Lumbar spondylolysis has also been reported in 24% of
patients.7
Ossification of the carpal and tarsal bones is delayed. The
terminal phalanges are short, pointed, hypoplastic, or even
absent. The second through the fifth metatarsals and meta-
carpals have epiphyses at both their proximal and distal
ends. The second metacarpal is unusually long.

Orthopaedic Considerations
Patients may have an absence or hypoplasia of the muscu-
lature that originates or inserts on the clavicle, specifically
the anterior portion of the deltoid and the clavicular head
of the sternocleidomastoid muscle. Brachial plexus irrita-
tion occurs rarely and manifests with pain and numbness.
Excision of the clavicular fragments can decompress the
brachial plexus. Scapular winging may be painful or symp-
tomatic. Scapulothoracic arthrodesis has been described in
these cases.8
Coxa vara is treated by valgus osteotomy of the proximal
A femur (Fig. 40-102). Indications for surgery are identical to
those for developmental coxa vara (i.e., a neck–shaft angle
of less than 90 degrees, a Hilgenreiner-epiphyseal angle of
60 degrees or more, or progression of deformity). Younger
patients may show progressive acetabular remodeling after
osteotomy. In older children, pelvic osteotomy to improve
the containment of the hip is advised.12
Treatment of scoliosis in these patients is similar to that
of idiopathic scoliosis (Fig. 40-103).

Other Considerations
An association between cleidocranial dysplasia and syringo-
myelia has been described.3 A predisposition to Wilms
tumor has been documented in patients with cleidocranial
dysostosis.11

References
Cleidocranial Dysostosis
1. Chung SMK, Nissenbaum MM: Congenital and developmental
defects of the shoulder, Orthop Clin North Am 6:381, 1975.
2. Dietz FR, Mathews KD: Update on the genetic bases of disorders
with orthopaedic manifestations, J Bone Joint Surg Am 78:1583,
B 1996.
3. Dore DD, MacEwen GD, Boulos MI: Cleidocranial dysostosis and
FIGURE 40-99  A and B, In cleidocranial dysostosis the shoulders
syringomyelia: review of the literature and case report, Clin
can be approximated because of the absence of the clavicles.
Orthop Relat Res 214:229, 1987.
4. Gamble JG, Simmons SC, Freedman M: The symphysis pubis:
anatomic and pathologic considerations, Clin Orthop Relat Res
203:261, 1986.
maxilla is small, and the symphysis of the mandible may fail 5. Hamner LH 3rd, Fabbri EL, Browne PC: Prenatal diagnosis of
to fuse. cleidocranial dysostosis, Obstet Gynecol 83:856, 1994.
6. Hassan J, Sepulveda W, Teixeira J, et al: Prenatal sonographic
The pelvis shows bilateral involvement. The symphysis
diagnosis of cleidocranial dysostosis, Prenat Diagn 17:770,
pubis remains wide4 (Fig. 40-100, B). The rami also are
1997.
incompletely fused and may appear thinner than usual. The 7. Jensen BL: Somatic development in cleidocranial dysplasia, Am J
sacroiliac joint may be wide. The iliac wings appear small. Med Genet 35:69, 1990.
Coxa vara is associated with cleidocranial dysplasia, and the 8. Krishnan SG, Hawkins RJ, Michelotti JD, et al: Scapulothoracic
femoral necks are very short (Fig. 40-101). Hip dislocations arthrodesis: indications, technique, and results, Clin Orthop Relat
occur infrequently. Res 435:126, 2005.
 CHAPTER 40  Skeletal Dysplasias e451

A
FIGURE 40-100  A, Anteroposterior (AP) shoulder radiographs show hypoplasia of the clavicle in patient with cleidocranial dysostosis.
B, AP pelvic radiograph in patient with cleidocranial dysostosis shows a lack of ossification of the symphysis pubis.

FIGURE 40-101  Pelvic radiograph of a 9-year-old child with FIGURE 40-102  Postoperative radiograph after valgus osteotomy
cleidocranial dysostosis. The symphysis pubis is wide, and coxa of the proximal femora performed on the child whose
vara is present bilaterally. pretreatment radiograph is shown in Figure 40-101.

9. Lee B, Thirunavukkarasu K, Zhou L, et al: Missense mutations
abolishing DNA binding of the osteoblast-specific transcription
factor OSF2/CBFA1 in cleidocranial dysplasia, Nat Genet 16:307,
1997.
10. Marie P, Sainton P: Sur la dysostose cleidocranienne hereditaire,
Rev Neurol 6:835, 1898.
11. Merks JH, Caron HN, Hennekam RC, et al: High incidence of
malformation syndromes in a series of 1,073 children with cancer,
Am J Med Genet A 134:132, 2005.
12. Richie MF, Johnston CE 2nd: Management of developmental coxa
vara in cleidocranial dysostosis, Orthopedics 12:1001, 1989.
13. Soule AB: Mutational dysostosis (cleidocranial dysostosis), J Bone
Joint Surg Am 28:81, 1946.
14. Tan KL, Tan LK: Cleidocranial dysostosis in infancy, Pediatr Radiol
11:114, 1981.
Idiopathic Osteolysis
Idiopathic osteolysis, or “disappearing bone disease,” is an
extremely rare condition characterized by the spontaneous
e452 SECTION VII  Other Orthopaedic Disorders
FIGURE 40-103  Scoliosis in a 12-year-old child with cleidocranial
dysostosis. Note the absent clavicles.
onset of rapid destruction and resorption of a single bone
or multiple bones. This condition results in severe deformi-
ties, with joint subluxation and instability.
Types
Gorham Massive Osteolysis
Gorham disease is the most common form of idiopathic
osteolysis. It is not genetically transmitted. The age at onset
of osteolysis is variable, and the disease has been seen in
children. It may appear in any part of the skeleton and has
been described in the shoulder, pelvis, proximal femur,
skull, and spine. It often involves multiple contiguous bones
(i.e., ribs and spine; or pelvis, proximal femur, and sacrum;
Fig. 40-104). Although the disease was previously thought
to be benign, its course varies with the site of involvement.
Gorham disease of the spine can be lethal.* The disease
may be multifocal.26
Presenting symptoms may consist of limb pain and weak-
ness, and they depend on the site of involvement. Patho-
logic fracture may occur.20
*References 1, 4, 5, 8, 10, 11, 13-15, 17, 19, 23-25.
FIGURE 40-104  Magnetic resonance image in a 12-year-old child
with Gorham disease shows kyphosis in the area of disappearing
bone, with spinal cord compromise.
The massive osteolysis results from vascular proliferation
or angiomatosis within the involved bones and the surround-
ing soft tissue. Histologic study reveals ectatic vessels
covered with endothelium that resemble hemangiomas.22,25
Cytokine studies have shown increased levels of interleukin-6
in patients with Gorham disease, thus leading to a hypoth-
esis that the disease may result from enhanced osteoclast
activity stimulated by cytokine mediators.6
Hereditary Multicentric Osteolysis With
Dominant Transmission
The age of onset of this genetically transmitted dysplasia
usually is between 2 and 7 years. The child complains of
pain and swelling in the hands and feet. The child may have
a history of previous trauma. Over a period of a few years
the carpals and tarsals completely resorb. The proximal
metacarpals are tapered on radiographs, and the distal
radius, ulna, and proximal humerus may also be involved
(Fig. 40-105). Wrist instability and ankle deformity result.
The disease usually stabilizes in adolescence, but it may
reappear in later adulthood.
Hereditary Multicentric Osteolysis With
Recessive Inheritance
This form of idiopathic osteolysis resembles the dominantly
transmitted type, with the addition of generalized osteopo-
rosis of the appendicular skeleton.
Nonhereditary Multicentric Osteolysis With
Nephropathy
This form has greater involvement of the hand and wrist
than of the foot. The carpus begins resorbing between 2 and

FIGURE 40-105  Osteolysis, carpotarsal form. Note the marked
erosion of the base of the metacarpals and absence of the carpal
bones. The proximal phalanges appear bizarre and elongated. The
hand is in marked ulnar deviation. (From Poznanski AK: The hand
in radiologic diagnosis, Philadelphia, 1984, Saunders.)
5 years of age, at which time the children complain of pain
and swelling. The metacarpals look like sucked peppermint
sticks. At the same time as bone resorption, severe renal
disease occurs, manifesting with proteinuria, glomerulone-
phritis, and malignant hypertension. The disease usually is
fatal in adolescence.
Radiographic Findings
The CT and MRI appearances of Gorham disease have been
well described.†
Differential Diagnosis
The differential diagnosis should include inflammatory dis-
orders of bone, malignant osteoclast tumors, arterial vascu-
lar disease, posttraumatic osteolysis, and AVN.
Treatment
Surgical treatment of Gorham disease is fraught with
complications. Bone grafts resorb as readily as does the
host bone. Attempts have been made surgically to stabilize
the disappearing spine, but they are usually unsuccessful
(Fig. 40-106).
Radiation therapy has met with some success in patients
with Gorham disease.9,12,15,16 Orthotic stabilization of the
spine with a halo, combined with radiation, has been used
in a few patients.15
†
References 3, 4, 7, 19, 24, 28, 29.
CHAPTER 40  Skeletal Dysplasias e453
Medical treatment with bisphosphonates such as zole-
dronic acid has met with some success in isolated cases.
Because bisphosphonates inhibit osteoclastic resorption,
their use is logical.18,20 Interferon-α2 has also been used in
patients with Gorham disease.20
Chylothorax and pleural effusions are particularly prob-
lematic in patients with osteolysis of the spine and have
been linked to a high mortality rate. Surgical and medical
treatments have been proposed2,20,21,27 (see Fig. 40-106).
References
Idiopathic Osteolysis
1. Anavi Y, Sabes WR, Mintz S: Gorham’s disease affecting the maxil-
lofacial skeleton, Head Neck 11:550, 1989.
2. Aoki M, Kato F, Saito H, et al: Successful treatment of chylothorax
by bleomycin for Gorham’s disease, Clin Orthop Relat Res
330:193, 1996.
3. Assoun J, Richardi G, Railhac JJ, et al: CT and MRI of massive
osteolysis of Gorham, J Comput Assist Tomogr 18:981, 1994.
4. Chung C, Yu JS, Resnick D, et al: Gorham syndrome of the thorax
and cervical spine: CT and MRI findings, Skeletal Radiol 26:55,
1997.
5. Damron TA, Brodke DS, Heiner JP, et al: Case report 803: Gor-
ham’s disease (Gorham–Stout syndrome) of scapula, Skeletal
Radiol 22:464, 1993.
6. Devlin RD, Bone HG 3rd, Roodman GD: Interleukin-6: a poten-
tial mediator of the massive osteolysis in patients with Gorham–
Stout disease, J Clin Endocrinol Metab 81:1893, 1996.
7. Dominguez R, Washowich TL: Gorham’s disease or vanishing bone
disease: plain film, CT, and MRI findings of two cases, Pediatr
Radiol 24:316, 1994.
8. Drewry GR, Sutterlin CE 3rd, Martinez CR, et al: Gorham disease
of the spine, Spine 19:2213, 1994.
9. Dunbar SF, Rosenberg A, Mankin H, et al: Gorham’s massive
osteolysis: the role of radiation therapy and a review of the litera-
ture, Int J Radiat Oncol Biol Phys 26:491, 1993.
10. Foult H, Goupille P, Aesch B, et al: Massive osteolysis of the cervi-
cal spine: a case report, Spine 20:1636, 1995.
11. Frankel DG, Lewin JS, Cohen B: Massive osteolysis of the skull
base, Pediatr Radiol 27:265, 1997.
12. Handl-Zeller L, Hohenberg G: Radiotherapy of Morbus Gorham–
Stout: the biological value of low irradiation dose, Br J Radiol
63:206, 1990.
13. Kulenkampff HA, Richter GM, Hasse WE: Massive pelvic osteoly-
sis in the Gorham–Stout syndrome, Int Orthop 14:361, 1990.
14. Livesley PJ, Saifuddin A, Webb PJ, et al: Gorham’s disease of the
spine, Skeletal Radiol 25:403, 1996.
15. Mawk JR, Obukhov SK, Nichols WD, et al: Successful conserva-
tive management of Gorham disease of the skull base and cervical
spine, Childs Nerv Syst 13:622, 1997.
16. McNeil KD, Fong KM, Walker QJ, et al: Gorham’s syndrome: a
usually fatal cause of pleural effusion treated successfully with
radiotherapy [see comments], Thorax 51:1275, 1996.
17. Mendez AA, Keret D, Robertson W, et al: Massive osteolysis of
the femur (Gorham’s disease): a case report and review of the
literature, J Pediatr Orthop 9:604, 1989.
18. Mignogna MD, Fedele S, Lo Russo L, et al: Treatment of Gorham’s
disease with zoledronic acid, Oral Oncol 41:747, 2005.
19. Mitchell CS, Parisi MT, Osborn RE, et al: Gorham’s disease involv-
ing the thoracic skeleton: plain films and CT in two cases [see
comments], Pediatr Radiol 23:543, 1993.
20. Patel DV: Gorham’s disease or massive osteolysis, Clin Med Res
3:65, 2005.
21. Riantawan P, Tansupasawasdikul S, Subhannachart P: Bilateral chy-
lothorax complicating massive osteolysis (Gorham’s syndrome)
[see comments], Thorax 51:1277, 1996.
e454 SECTION VII  Other Orthopaedic Disorders

A B

C
FIGURE 40-106  A and B, Radiographs of a 12-year-old girl with Gorham osteolysis of cervical spine. C, Posterior cervical fusion with halo
immobilization was attempted.

22. Sato K, Sugiura H, Yamamura S, et al: Gorham massive osteolysis,
Arch Orthop Trauma Surg 116:510, 1997.
23. Schnall SB, Vowels J, Schwinn CP, et al: Disappearing bone disease
of the upper extremity, Orthop Rev 22:617, 1993.
24. Spieth ME, Greenspan A, Forrester DM, et al: Gorham’s disease
of the radius: radiographic, scintigraphic, and MRI findings with
pathologic correlation. A case report and review of the literature,
Skeletal Radiol 26:659, 1997.
25. Stove J, Reichelt A: Massive osteolysis of the pelvis, femur and
sacral bone with a Gorham–Stout syndrome, Arch Orthop Trauma
Surg 114:207, 1995.
26. Tauro B: Multicentric Gorham’s disease, J Bone Joint Surg Br
74:928, 1992.
27. Tie ML, Poland GA, Rosenow EC 3rd: Chylothorax in Gorham’s
syndrome: a common complication of a rare disease, Chest
105:208, 1994.
 CHAPTER 40  Skeletal Dysplasias e455

D E

F
FIGURE 40-106, cont’d  D and E, Radiographic appearance after three attempts at cervical fusion. The patient now has a tracheostomy
and has weakness of all her extremities. F, Chest radiograph shows progressive osteolysis of the clavicle and scapula and chylothorax.

28. Vinee P, Tanyu MO, Hauenstein KH, et al: CT and MRI of Gorham
syndrome, J Comput Assist Tomogr 18:985, 1994.
29. Yoo SY, Hong SH, Chung HW, et al: MRI of Gorham’s disease:
findings in two cases, Skeletal Radiol 31:301, 2002.
mucopolysaccharidoses are subdivided based on their
enzyme deficiency and the type of substance that accumu-
lates. The most common of the mucopolysaccharidoses are
Morquio and Hurler syndromes.

Mucopolysaccharidoses
The mucopolysaccharidoses constitute the largest group
of lysosomal storage diseases (Table 40-5). The intracellu­
lar degradation of micromolecular compounds by lysoso­
mal enzymes is abnormal in this group of diseases, and
this abnormality leads to intracellular accumulation of
semidegraded compounds. The overall incidence of the
mucopolysaccharidoses is 1 in 25,000 live births.81 The
Diagnosis
The GAGs heparan sulfate, dermatan sulfate, and keratan
sulfate are the mucopolysaccharides that accumulate and
are excreted in the urine. Biochemical analysis of the urine
can lead to the diagnosis of the specific mucopolysacchari-
dosis. Many different techniques are used to isolate the
GAGs from the urine. The ease with which abnormal
GAGs are detected on biochemical testing varies with the
different mucopolysaccharidoses.25,51,58,129
e456 SECTION VII  Other Orthopaedic Disorders

Table 40-5  Characteristic Features Distinguishing the Mucopolysaccharidoses

Age at
Increased Urinary Which
Excretion of Acid Features Corneal
Type Enzyme Defect Mucopolysaccharide Inheritance Present Facies Clouding

Hurler syndrome Deficient α-L-iduronidase Dermatan sulfate ++ Autosomal First few Grotesque; Present
(MPS I) Heparan sulfate + recessive months gargoyle
May appear
normal at
birth

Hunter Low sulfoiduronate Heparan sulfate ++ Sex-linked 6-12 mo Similar to Absent

syndrome sulfatase Dermatan sulfate + recessive Hurler;
(MPS II) All patients less severe
male

Sanfilippo Low N-heparan sulfatase or Heparan sulfate ++ Autosomal Early Not coarse Absent
syndrome α-acetylglucosaminidase recessive childhood
(MPS III)

Morquio N-acetylgalactosamine-6- Keratan sulfate ++ Autosomal 2-4 yr Not coarse; Present,

syndrome sulfate sulfatase (diminishes with recessive wide slowly
(MPS IV) age) mouth; progressive
prominent
maxilla

Scheie syndrome Deficient α-L-iduronidase Heparan sulfate + Autosomal Late Somewhat Present
(MPS I-S Dermatan sulfate ++ recessive childhood coarse
[MPS V])
Maroteaux-Lamy N-acetylgalactosamine-4- Dermatan sulfate ++ Autosomal Early to late Coarse Present, poor
syndrome sulfate sulfatase recessive childhood vision
(MPS VI)

MPS, Mucopolysaccharidosis.

Identification of the mucopolysaccharidoses is also pos-
sible through skin fibroblast culture.10 The fibroblasts are
assayed for specific enzyme activity known to be abnormal
in the different mucopolysaccharidoses. This assay has
also been used with chorionic villus sampling and amniotic
fluid cells to establish the prenatal diagnosis in affected
fetuses.52,118,135,136
As molecular genetic research determines the specific
mutations that result in mucopolysaccharidoses, genetic
testing has become a means of establishing the diagnosis.
Specific mutations are described individually for each type
of mucopolysaccharidosis.
Because new therapies are most effective in very young
infants who have not yet suffered neurologic deterioration
as the result of accumulation of mucopolysaccharides, early
diagnosis is critical. The accuracy and effectiveness of
newborn screening for mucopolysaccharidoses and other
storage diseases have been scrutinized. In an Australian
study, screening using protein markers was accurate in
Morquio and Sanfilippo syndromes but was not reliable in
Hunter syndrome.74
Radiographic Findings
All the mucopolysaccharidoses lead to abnormally short
stature. Radiographic changes are also seen in the skull, and
they lead to abnormal facies. The skull is enlarged, with
thick calvaria. The clavicles are broad, especially medially.
The scapulae are short and stubby. The ribs are oar shaped
and broader anteriorly than posteriorly. The vertebral bodies
are ovoid when immature. Scoliosis and kyphosis are fre-
quently present. The iliac wings are flared, and the acetab-
ula are dysplastic. Coxa valga is common. The long bones
often have thickened cortices. The second through fifth
 CHAPTER 40  Skeletal Dysplasias e457

Cardiovascular Skeletal Mental

Deafness Hepatosplenomegaly Abnormality Stature Changes Retardation Prognosis

Present Present Present Normal at Moderate Severe Progressive disease;

birth, later dorsolumbar usually death by
may be kyphosis age 10 yr from
moderately Anteroinferior heart disease or
short beaking of respiratory
body of L2 or infection
L1
Frequent Present Present Normal at Moderate, Late in onset, Survival possible into
Pulmonary birth, later absence of less severe the third decade of
hypertension may be lumbar than in life
moderately kyphosis Hurler Eventual death from
short cardiopulmonary
disease
Present Minimal or moderate Absent Normal Minimal Severe Survival into third or
widening of fourth decade
clavicles at
medial ends,
no kyphosis
Present Usually absent Minimal, if Markedly short Severe and Absent Normal longevity
present (<4 ft) diffuse Respiratory failure
aortic platyspondyly from rib cage
regurgitation with central rigidity
tongue
Capital femoral
epiphyses
irregular,
eventually
disappearing
Present Absent Present; aortic Normal Small epiphysis Absent Normal longevity
valve disease on hands

Present Hepatomegaly rather Absent Normal at Severe (same as Absent Guarded; death from
than splenomegaly birth, later Hurler) cardiovascular
markedly complications
short

metacarpals are pointed at their proximal ends, and the
phalanges are bullet shaped. Ossification of the carpal bones
is delayed.
Types
It is not possible to differentiate the various types of muco-
polysaccharidoses on the basis of radiographic features
alone. The distinctive features of the various mucopolysac-
charidoses are summarized in Table 40-5.
Mucopolysaccharidosis I (Hurler Syndrome)
Genetics
Hurler syndrome is an autosomal recessive disorder charac-
terized by a deficiency in α-L-iduronidase.8 The enzyme
defect leads to an accumulation of both dermatan and, in
lesser amounts, heparan sulfates, which are excreted in the
urine.28,75 Hurler syndrome is seen equally in both sexes and
has been described in all ethnic groups.69 The spectrum of
clinical severity in α-L-iduronidase deficiency ranges from
the very severe (Hurler syndrome) form in which death
occurs in untreated patients in the first decade of life,
through an intermediate form (Hurler/Scheie syndrome)
compatible with survival into the third decade, to a rela-
tively mild form (Scheie syndrome) with near-normal life
expectancy.130 Numerous mutations of the gene encoding
α-L-iduronidase are known in Hurler syndrome, and differ-
ent mutations have been found to cause the milder sub-
types.62,112 Although all patients with nonsense mutations
on both alleles develop the Hurler phenotype, patients with
missense, insertion, deletion, or splice site mutations are
more variable in their clinical involvement.109 As noted,
prenatal diagnosis is available through amniocentesis, and
e458 SECTION VII  Other Orthopaedic Disorders

A B
FIGURE 40-107  A and B, Typical deformity of the head in an infant with Hurler syndrome (mucopolysaccharidosis I).

the carrier state can be identified by assaying leukocytes for

enzyme activity.126
Pathology
Deposits of abnormal mucopolysaccharide are seen in many
tissues, including the central nervous system (CNS) and
peripheral ganglia, the retina, the parenchymal and Kupffer
cells of the liver, the reticulum cells of the spleen and lymph
nodes, the pituitary glands, and the testes.73 Deposits are
also seen in the heart, especially in the valves and coronary
arteries.17,93 Chondrocytes and osteocytes are enlarged and
have vacuoles. The chondrocytes of the growth plate are
disorganized.102 GAGs infiltrate the ligaments, tendons, and
joint capsules.102 Neutrophils, lymphocytes, and eosinophils
show coarse violet granules, termed Reilly granules, on
Wright stain.
Clinical Features
Affected infants are normal in the neonatal period because
the changes seen in Hurler syndrome do not occur until the
mucopolysaccharide accumulates. The average age at diag-
nosis is 9 months.20
The facies of affected infants becomes coarse and heavy FIGURE 40-108  Lateral view of an infant with Hurler syndrome
(Fig. 40-107). The head is enlarged, and hydrocephalus may shows localized kyphosis at the dorsolumbar junction.
result from meningeal deposits.101 The skull is abnormally
shaped, and the forehead is low. Premature closure of the Clouding of the cornea is a universal feature of the
sagittal and metopic sutures of the skull leads to a promi- disease. Progressive degeneration of the retina, combined
nent longitudinal ridge that may cross the forehead. The with the clouded cornea, leads to blindness. Glaucoma in
ears are low and the eyes are wide-set. The teeth are poorly early childhood has been described.85
formed and widespread. The nostrils are wide, and the nose The patient has a short neck. The rib cage is deformed,
has a depressed bridge and broad tip. The lips are everted, with flaring of its lower portion. The abdomen is protuber-
the tongue is enlarged, and the mouth is open. “Chronic ant because of hepatosplenomegaly.
rhinitis” with noisy mouth breathing is always present and Thoracolumbar kyphosis can be seen in children as young
is caused by narrowing of the nasopharynx by enlarged as 6 months of age (Fig. 40-108). The presence of a gibbus
adenoids and mucosal deposits. This feature, combined deformity in a child with motor delays should raise the
with the presence of hernias, may be the presenting sign of suspicion of Hurler syndrome.12 Flexion contractures of
the disease.20 Obstructive sleep apnea may result from the joints are common. The little finger is curved radially.
upper airway obstruction and may lead to death.100 The hands are broad, with short, stubby fingers. Genu
 CHAPTER 40  Skeletal Dysplasias e459

C
FIGURE 40-109  A and B, Clinical appearance of a 7-year-old girl with Hurler syndrome who has been treated with bone marrow
transplantation. She has short stature, genu valgum, and thoracolumbar kyphosis. C, Lateral spine shows typical thoracolumbar kyphosis
with hypoplasia of the L1 vertebral body.

valgum and flatfeet may be present. Stature usually is short
(Fig. 40-109).
Mental retardation is a consistent, progressive feature of
Hurler syndrome but is absent in the Scheie variant. Cardiac
problems result from myocardial deposits, which lead to
stiff walls and valve malfunction, most commonly of the
mitral valve.93 In the absence of treatment, cardiomyopathy
is relentlessly progressive.24
Radiographic Findings
The skeletal changes in Hurler syndrome resemble those
seen in Morquio syndrome, with a few exceptions. The skull
is normal in infancy but becomes enlarged in the AP diam-
eter and short in height because of premature closure of the
sutures. The sella turcica is elongated and J-shaped. The
mandible is short and wide.
Dysplastic changes develop in the vertebrae in the first
few months of life. In the lateral view, the biconvex shape
persists, and mild thoracolumbar kyphosis may be appreci-
ated. Between 1 and 2 years of age, the kyphosis at the
thoracolumbar junction becomes pronounced. An anteroin-
ferior beak develops on the vertebral body (Fig. 40-110)
that differs from the central tonguelike projection seen in
patients with Morquio disease. Odontoid hypoplasia and
atlantoaxial instability may be seen in patients with Hurler
syndrome110 (Fig. 40-111, A).
The pelvis is flared, and the acetabula are dysplastic.
Coxa valga is marked. Ossification of the capital femoral
e460 SECTION VII  Other Orthopaedic Disorders

C
FIGURE 40-110  A, Thoracolumbar kyphosis in a 3-year-old child with Hurler syndrome. The anteroinferior beaking of the vertebral bodies
is apparent. B, Dysplastic acetabula and coxa valga are seen in Hurler syndrome. C, Short, tapered metacarpals are also present.

epiphysis is delayed. Subluxation or dislocation of the hips Treatment

is a frequent finding70 (Fig. 40-111, B).
Chest radiographs reveal cardiomegaly. The abnormal
ribs are broad anteriorly and narrow posteriorly. The clavi-
cles are hypoplastic at their lateral ends and thick
medially.
The long bones have widened diaphyses. The humerus
is short and thick, whereas the distal radius and ulna are
tapered, with their physes pointing toward each other. In
the hand, the metacarpals are tapered proximally and the
phalanges are short and broad (see Fig. 40-110, C).
CT and MRI of the brain reveal abnormalities. Small
cystic lesions and increased signal intensity are noted in the
periventricular white matter on brain MRI.2,60
If untreated, Hurler syndrome is fatal, usually before 10
years of age. The usual cause of death is cardiac complica-
tions. Fortunately, molecular genetic and transplantation
research has provided some hope for survival in patients
with Hurler syndrome.
Hurler syndrome has been treated successfully with
bone marrow transplantation. Transplantation before the
age of 24 months yields better clinical results.89 The pre-
ferred donor is an HLA-identical sibling.39 After successful
transplantation, accumulation of the mucopolysaccharide
stops. The coarse facies, hepatosplenomegaly, and possibly
hearing improve. Unfortunately, the neurologic abnormali-
ties persist, although they do not worsen.39 To avoid serious

A B
FIGURE 40-111  A, Cervical spine radiograph of a 4-year-old girl with Hurler syndrome. The odontoid is hypoplastic but she was not
unstable. B, Anteroposterior pelvic radiograph of a girl with Hurler syndrome shows subluxation of the hips and severe acetabular
dysplasia.
neurologic deterioration in infancy, it is crucial that the
diagnosis of Hurler syndrome be made as soon as
possible.12
Umbilical cord blood transplantation from unrelated
donors has been performed in children with Hurler syn-
drome who do not have a suitable bone marrow transplant
option. Although graft-versus-host disease is problematic,
one study found an 85% survival rate after umbilical cord
blood transplantation.104
Enzyme replacement therapy has also been investigated
in patients with Hurler syndrome. Weekly infusions of a
recombinant human enzyme known as laronidase have
resulted in improved ability to walk, improved pulmonary
function, and decreased hepatomegaly.55,133 Because the
enzyme cannot cross the blood–brain barrier, the CNS
manifestations of the disease cannot be influenced.76,131 The
use of enzyme replacement therapy in adjunct with hema-
topoietic cell transplantation has also been described.37
Research is currently under way in the field of gene
therapy for Hurler syndrome. Genetically modified hema-
topoietic progenitor cells infected with retroviruses carrying
human α-L-iduronidase cDNA have successfully produced
α-L-iduronidase in vitro and thus may be potentially useful
for the gene therapy of Hurler syndrome.29,49
Orthopaedic Considerations
Orthopaedic manifestations of Hurler syndrome are not
responsive to bone marrow transplantation.30,39,128 Hip
flexion contractures are very common in these children. Hip
dysplasia is progressive despite successful bone marrow
transplantation, and it often requires surgical reconstruc-
tion, including reduction, femoral osteotomy, and pelvic
osteotomy.70 Increasing valgus deformity of the knees and
CHAPTER 40  Skeletal Dysplasias e461
progressive generalized myopathy typically result in loss of
mobility as the child enters adolescence.30 Medial epiphy-
seal stapling has resulted in improved alignment in early
follow-up of a limited number of patients128 (Fig. 40-112).
Although correction of valgus necessitates staple removal,
the valgus may recur. In such cases, repeat stapling has
been used.86 Now that patients can survive childhood,
it remains to be seen whether surgery will improve their
long-term gait.
Carpal tunnel syndrome is nearly always present in chil-
dren with Hurler syndrome. In fact, the mucopolysacchari-
doses as a group account for the majority of all reported
cases of pediatric carpal tunnel syndrome.123 The condition
is bilateral. Symptoms are rare, but signs such as decreased
sweating, pulp atrophy, thenar wasting, and manual clumsi-
ness are common.15,42 Thenar wasting and claw-hand defor-
mity can be seen in advanced cases.132 Median nerve
compression results from accumulations around the nerve
and within the carpal tunnel (Fig. 40-113). The flexor
retinaculum is characteristically thickened. Treatment is
surgical decompression.123 Because patients may be too
young to voice complaints of numbness and paresthesias
or may be mentally impaired by their disease, Van Meir
and De Smet suggested that routine screening may be of
benefit before obvious signs of carpal tunnel syndrome
appear.123 Trigger fingers may also develop and may respond
to surgical release41 (Fig. 40-114). Surgery consists of
annular pulley release, with partial flexor digitorum super-
ficialis tendon resection recommended by Van Heest and
colleagues. Improved digital range of motion was seen after
surgery.122 Bone marrow transplantation does not prohibit
the development of carpal tunnel syndrome and trigger
digits.128
e462 SECTION VII  Other Orthopaedic Disorders
FIGURE 40-112  A, Bilateral genu valgum in a
7-year-old girl with Hurler syndrome after bone
marrow transplantation. B, Medial tibial epiphyseal A B
stapling was performed.
FIGURE 40-113  Intraoperative photograph of carpal tunnel
decompression in a child with Hurler syndrome shows changes in
the median nerve.
Cervical instability may be present in children with
Hurler syndrome. MRI shows ligamentous thickening, syno-
vial hypertrophy at C1-2, and increased soft tissue anterior
to the odontoid.128 Although odontoid dysplasia may
improve after successful bone marrow transplantation in
children with Hurler syndrome, soft tissue deposits persist
in the upper cervical spine on MRI.48 C1-2 fusion may be
necessary in children with instability secondary to odontoid
hypoplasia.
Thoracolumbar kyphosis persists after bone marrow
transplantation (see Fig. 40-109). One report noted suc-
cessful anterior spinal fusion using instrumentation and
strut grafting in a young patient after bone marrow
transplantation.23
Anesthesia is complicated in children with Hurler syn-
drome. Up to 53% of affected children have been reported
to have airway difficulty during surgery.46 The trachea is
infiltrated with abnormal deposits, thus making airway
obstruction problematic.1 Myocardial abnormalities may
also pose anesthetic risks.57
Mucopolysaccharidosis II (Hunter Syndrome)
Genetics
Hunter syndrome is a rare sex-linked recessive disorder
caused by a deficiency in the enzyme iduronate-2-sulfatase.
Nearly all affected patients are male, whereas carriers are
female. The disease affects approximately 1 in 132,000
boys.44 The genetic abnormality is in the iduronate-2-sulfa-
tase gene located at the Xq27-q28 region. Several different
mutations have been described in this area in patients with
Hunter syndrome.19,32,87,113 The variability in the molecular
genetic abnormality produces variability in the clinical phe-
notype. Carrier status can be identified with DNA testing.114
A few girls have been affected with Hunter syndrome as a
result of complete unilateral inactivation of the nonmutant
paternal X chromosome.119
Pathology
Patients with Hunter syndrome excrete large amounts of
heparan sulfate and lesser amounts of dermatan sulfate in
the urine. As in Hurler syndrome, these substances accu-
mulate in the tissues of affected patients.
Clinical Features
The distinguishing feature is an absence of corneal clouding.
Thoracolumbar kyphosis is less pronounced than in patients
with Hurler syndrome (Fig. 40-115). Mental retardation is

A B
FIGURE 40-114  A and B, Flexion of the fourth and fifth fingers secondary to trigger finger deformity in a child with Hurler syndrome.
A B
FIGURE 40-115  Lateral (A) and anteroposterior (B) radiographs of
the spine in an adolescent boy with end-stage Hunter disease.
Mild thoracolumbar kyphosis is present.
later in onset and slower in progression than in Hurler syn-
drome. Deafness occurs in 50% of patients. Carpal tunnel
syndrome is common.15,84
Radiographic Findings
Radiographic findings are similar to those seen in Hurler
syndrome but are less severe (Fig. 40-116).
Treatment
Bone marrow transplantation has been used in isolated
cases of Hunter syndrome.65,72 Gene therapy is being
investigated.16
CHAPTER 40  Skeletal Dysplasias e463
FIGURE 40-116  Radiographs of the hand of a boy with Hunter
syndrome show tapered proximal metacarpals, a sloped radial
epiphysis, and flexion contractures of the fingers.
Clinical Course
The clinical course is milder and more variable than in
Hurler syndrome. Although most patients die by 18 years
of age if not treated, some survive into adulthood. The usual
cause of death is airway obstruction36,61,100,134 or cardiac
failure.24
Mucopolysaccharidosis III (Sanfilippo Syndrome)
Genetics
Sanfilippo syndrome is a group of four autosomal recessive
enzyme deficiencies, all leading to an inability to metabolize
heparan sulfate. Sanfilippo syndrome type A results from a
defect in the lysosomal enzyme sulfamidase.14,99 Sanfilippo
syndrome type B is caused by a deficiency of α-N-acetyl-
glucosaminidase.11,98,137 Sanfilippo syndrome type C results
e464 SECTION VII  Other Orthopaedic Disorders
from a deficiency of acetyl-coenzyme A:α-glucosaminide-
N-acetyltransferase.6 Sanfilippo syndrome type D is caused
by a deficiency of N-acetylglucosamine-6-sulfatase.34
Pathology
Patients with Sanfilippo syndrome excrete excessive
amounts of heparan sulfate in the urine, but routine screen-
ing of urine may fail to identify the abnormal substance.92
Accumulation of heparan sulfate in lysosomes results in
degeneration of the CNS.
Clinical Features
CNS deterioration is manifested by relentlessly progressive
mental retardation, combined with hyperactivity and aggres-
sive behavior.127 Colville and Bax reported that the present-
ing symptom in 56% of patients with Sanfilippo syndrome
was a delay or regression in language.21 Sleep disturbances
are almost universal.33
Corneal clouding and cardiac abnormalities are extremely
rare in this disorder. Hepatosplenomegaly, skeletal deformi-
ties, and short stature are milder than in Hurler syndrome
(Fig. 40-117). These patients have no specific musculoskel-
etal problems.
Treatment
As is the case with the other mucopolysaccharidoses,
bone marrow transplantation and gene therapy are being
investigated.13,124
Mucopolysaccharidosis IV (Morquio Syndrome)
Genetics
Morquio syndrome is an autosomal recessive dysplasia
caused by a deficiency in the enzyme N-acetylgalactosamine-
6-sulfate sulfatase, which is essential for the degradation of
keratan sulfate and chondroitin-6-sulfate.103 The gene for
this lysosomal enzyme is located on chromosome 16.9,79
A
FIGURE 40-117  Anteroposterior (A) and frog-leg (B) pelvic radiographs of adolescent girl with Sanfilippo syndrome. Dysplastic changes
of both femoral heads are apparent.
Diagnosis
The diagnosis of Morquio syndrome is made with a positive
test result for urinary keratan sulfate.51 Urinary keratan
sulfate concentrations peak between the ages of 1 and 5
years.117 Blood keratin sulfate levels are also elevated in
patients with Morquio syndrome.117 The clinical severity of
the disease varies among patients. Children with the milder
form of the dysplasia may not excrete keratan sulfate in
their urine, thus making differentiation from SED diffi-
cult.35 The incidence of Morquio syndrome type A is 1 per
76,000 live births.
A second form of Morquio syndrome is mucopolysac-
charidosis IV-B, which is caused by a deficiency in
β-galactosidase.121 Morquio syndrome type B dysplasia
tends to manifest at a later age.10 Affected individuals have
normal intelligence and no neurologic abnormalities. This
form of Morquio syndrome does produce dysostosis multi-
plex, dwarfism, odontoid anomalies, and cloudy corneas.38
Keratan sulfate is present in the urine of these patients
as well.120
Histology
Histopathologic study reveals physeal abnormalities, includ-
ing vacuolization of the chondrocytes and disruption of the
orderly arrangement of the proliferating chondrocytes. Pro-
visional calcification is sparse.71
Clinical Features
Patients usually appear normal at birth but exhibit growth
failure and SED as infants. Most children are brought to a
physician for investigation of what the parents perceive as
an abnormal appearance by 12 to 18 months of age.21,81 The
average age of the onset of symptoms in a Brazilian report
was before 36 months, whereas the average age at diagnosis
was 48 months.7 Intelligence is normal in this condition,
unlike in the other mucopolysaccharidoses.

A B
FIGURE 40-118  A and B, Characteristic clinical appearance of a
child with Morquio syndrome.
Thoracolumbar kyphosis may be the first deformity
noted by the parents. The child also has genu valgum.
Dwarfing is primarily the result of shortness of the trunk
rather than the limbs. The neck is short. The child stands
with the knees and hips flexed in a crouched position and
the head thrust forward and sunk between the high shoul-
ders (Fig. 40-118). The eyes are wide-set, the nasal bridge
is depressed, and the maxilla is prominent. The abdomen
may protrude, but hepatosplenomegaly is not associated
with this particular mucopolysaccharidosis.
The epiphyses of the knees, elbows, shoulders, wrists,
and ankles appear enlarged. Generalized joint laxity is a
feature of Morquio syndrome that distinguishes it from the
other mucopolysaccharidoses, in which joint stiffness is the
rule. Ankle valgus and flatfeet are present. Muscle weakness
may be noted. The gait is waddling, and the hands and feet
are short.
Corneal opacities develop. Nearly all patients have
hearing loss by the end of the first decade.94 Silent cardiac
abnormalities, particularly mitral and aortic valve thickening
and stenosis, are found in many patients with Morquio
syndrome.54 Restrictive lung disease results from abnormali-
ties in the shape and mechanics of the chest wall.18 Pectus
carinatum is present. The sternal segments fuse prema-
turely, with consequent restriction of chest excursion and
reduced vital capacity.
Radiographic Findings
The radiographic features of Morquio syndrome are distinc-
tive. The vertebral bodies in the thoracic and lumbar spine
are ovoid in infancy but with time become flattened (termed
platyspondyly). A central tongue or anterior beak becomes
obvious in the lower thoracic and upper lumbar vertebrae
(Fig. 40-119, A). The disks are narrower than normal.
Kyphosis is common. Hypoplasia or absence of the odontoid
CHAPTER 40  Skeletal Dysplasias e465
process is a characteristic feature of Morquio syndrome
(Fig. 40-119, B to D).
The epiphyses of the long bones ossify irregularly and
thus are broad and flat. Ossification of the femoral heads is
delayed, and the femoral necks are widened. Coxa vara or
valga may occur (Fig. 40-119, E). The acetabula are dysplas-
tic. The pelvis becomes narrow with growth, with a result-
ing “wine-glass” shape to the inner pelvic contour. The iliac
wings are flared laterally.
A delay in the ossification of the lateral proximal tibial
epiphysis is common. The metaphyses are widened, but the
diaphyses are relatively normal. The carpals and tarsals are
irregular, and their ossification is delayed. Central constric-
tion of the diaphyses of the metacarpals, phalanges, and
metatarsals occurs. The bases of the second through fifth
metacarpals are pointy (Fig. 40-119, F).
Prenatal Diagnosis
Prenatal diagnosis of Morquio syndrome is possible. Cells
present in the amniotic fluid are assayed for the presence
of N-acetylgalactosamine-6-sulfate sulfatase. An absence of
enzyme activity predicts the diagnosis of Morquio syndrome
type A.
Orthopaedic Considerations
Morquio syndrome is the most common of the mucopoly-
saccharidoses to produce upper cervical instability.116 Odon-
toid hypoplasia leads to upper cervical spinal cord
compression because of instability between C1 and C2.77
The odontoid hypoplasia is present in all patients with
Morquio syndrome type A.82,83
Patients usually become symptomatic between 4 and 6
years of age, when they complain of difficulty walking.59
Parents often attribute the change in ambulation to genu
valgum (Fig. 40-120). The treating orthopaedist must be
aware of the potential cervical spinal cord problems, and
lateral flexion-extension radiographs must be obtained
before surgical treatment of the genu valgum is considered.
In most cases the patient’s decreased endurance is caused
by subtle myelopathy rather than lower extremity
malalignment.
Evaluation of cervical spine instability in a patient with
Morquio syndrome begins with lateral flexion-extension
plain radiographs. Translation of the anterior arch of C1 or
splaying of the posterior elements with flexion indicates
instability (see Fig. 40-119). CT scans obtained in flexion
and extension have also been used to document instability
and spinal cord compression,95 but MRI images the spinal
cord more clearly.60 Posterior indentation of the spinal cord
by the posterior arch of C1 can be seen. A few studies have
reported the presence on MRI or myelography of an ante-
rior soft tissue mass at C1 that further compromises the
space available for the spinal cord in patients with Morquio
syndrome.50,105 SSEPs have also been used to document the
physiologic effect of upper cervical instability on the spinal
cord.108 In our experience, when spinal cord compression is
suspected on imaging studies, surgical treatment should
proceed, and preoperative SSEPs are unnecessary.
Atlantoaxial instability in Morquio syndrome is treated
by posterior spinal fusion.105,116 Postoperative immobiliza-
tion in a halo vest is necessary. If the instability is untreated,
myelopathic changes will progress rapidly, and traumatic
e466 SECTION VII  Other Orthopaedic Disorders

A B

C D
FIGURE 40-119  A, Lateral radiograph of the spine in a 3-year-old girl with Morquio syndrome. A central tonguelike beak can be seen on
the vertebral bodies. Lateral flexion (B) and extension (C) radiographs of a girl with Morquio syndrome show atlantoaxial instability. C1-2
fusion was performed. D, Radiograph 2 years 6 months after surgery shows solid fusion.

quadriparesis and death from respiratory arrest have been
described.40,67 Because myelopathy rarely resolves com-
pletely after surgery, performing surgery at the first sign of
instability is imperative to preserve neurologic func-
tion.67,107,116 Some investigators advocate prophylactic pos-
terior occipitocervical fusion in patients with Morquio
syndrome and state that once myelopathy occurs, neuro-
logic compromise is usually permanent.91
When significant anterior compression exists, anterior
transoral decompression has been performed in conjunction
with posterior occipitocervical fusion in patients with
Morquio syndrome. The addition of anterior decompression
adds to the difficulty of the surgical procedure by increas-
ing the instability already present, but the procedure has
been found necessary in a few patients with Morquio
syndrome.4,90
Thoracolumbar kyphosis is also commonly seen in
patients with Morquio syndrome. Anterior wedging of the
T12 or L1 vertebra is often present. Occasionally the
wedging does not resolve with growth and leads to progres-
sive kyphosis that requires orthotic treatment or even
decompression or surgical fusion.22,116 Left untreated, the
kyphosis may progress and cause neurologic compromise.64
Anterior fusion with instrumentation was successful in

FIGURE 40-119, cont’d  E, Pelvic radiograph of a child with Morquio syndrome shows severe dysplasia of the proximal femur and
acetabulum. The pelvis is narrowed. F, Radiographic appearance of the hand in Morquio syndrome.
FIGURE 40-120  Excessive genu valgum in a 5-year-old boy with
Morquio syndrome and difficulty walking.
treating a small series of patients with Morquio syndrome
who presented with neurologic deterioration.22
Genu valgum may be treated by realignment osteotomy
after cervical instability has been ruled out or treated.
Degenerative knee arthritis may occur; delamination of the
CHAPTER 40  Skeletal Dysplasias e467
F
chondral layer from subchondral bone has been seen on
knee arthroscopy.56 Total knee arthroplasty has been per-
formed in adults with Morquio syndrome.26 Proximal
femoral osteotomy for coxa vara is occasionally performed.
Wrist instability usually can be treated by splinting.
Patients with Morquio syndrome carry substantial anes-
thetic risk because of their cervical instability and respira-
tory and cardiac abnormalities.78 Upper airway obstruction
can preclude safe endotracheal intubation.115
Mucopolysaccharidosis V (Scheie Syndrome)
Mucopolysaccharidosis V has now been recategorized as a
subtype of mucopolysaccharidosis I (Hurler syndrome).
The enzyme deficiency has been identified as α-L-
iduronidase, the same defect seen in patients with Hurler
syndrome. In contrast to Hurler syndrome, progressive neu-
rologic deterioration is not reported, and stature is nearly
normal. Musculoskeletal problems usually do not occur.
Patients can present with muscle stiffness.125 Survival into
adulthood is expected.131
Mucopolysaccharidosis VI
(Maroteaux-Lamy Syndrome)
Maroteaux-Lamy syndrome is a very rare mucopolysac-
charidosis that results from a deficiency in arylsulfatase B,
also known as N-acetylgalactosamine-4-sulfate sulfatase. It
is inherited as an autosomal recessive trait, as are most
enzyme deficiencies. Patients have an abnormal accumula-
tion of the GAG dermatan sulfate.
The disease usually manifests at 2 to 3 years of age, when
shortness of the trunk and limbs, genu valgum, lumbar
kyphosis, and pectus carinatum become apparent (Fig.
40-121, A and B). Spinal cord compression is possible.66,80,96
Stenosis at the level of the foramen magnum and upper
cervical spine can occur, resulting in compression. The
e468 SECTION VII  Other Orthopaedic Disorders

A B

C D
FIGURE 40-121  A, Clinical appearance of an 18-month-old boy with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome). B and
C, At 8 years of age, he has hip and knee flexion contractures, thoracolumbar kyphosis, more noticeable shortening of the extremities,
and a tracheostomy. D, Lateral radiograph of spine shows thoracolumbar kyphosis. The patient has undergone upper cervical fusion. The
ribs are short and broad, and the chest is severely narrowed.

posterior longitudinal ligament is thickened in such cases.111
Corneal opacities and hepatosplenomegaly are present. Car-
diomyopathy may be seen in young children.45 Pulmonary
function can be compromised. Skeletal abnormalities closely
resemble those seen in Hurler syndrome, but intelligence is
normal in Maroteaux-Lamy syndrome (Fig. 40-121, C).
This disorder has a spectrum of clinical involvement.
This observation is supported by molecular genetic research,
which shows several mutations that produce various forms
of the syndrome.53,68 Bone marrow and stem cell trans-
plants, umbilical cord blood transplantation, and gene
therapy have been proposed as treatments.3,31,63,88 As in

Hurler syndrome, bone marrow transplantation can improve
the cardiac manifestations of the disease, but the skeletal
changes persist or may even worsen after treatment.47
Enzyme replacement therapy using recombinant arylsulfa-
tase B has been shown to improve ambulatory ability and
joint pain and stiffness, although effects on pulmonary func-
tions are mixed. GAG excretion in the urine was decreased
by 76%.43
Mucopolysaccharidosis VII (Sly Syndrome)
Sly syndrome, first described in 1973, is the rarest of the
mucopolysaccharidoses. The deficient enzyme in this condi-
tion is β-glucuronidase.106 Prenatal diagnosis is possible.5
Sly syndrome has a variable clinical presentation. Some
infants present in the neonatal period with hydrops fetalis.97
Initial signs may include cardiomyopathy, hepatospleno-
megaly, corneal clouding, and spinal cord compression.27
Occipital–cervical arthrodesis has been performed for
the treatment of craniovertebral instability and spinal cord
compression secondary to stenosis at the craniovertebral
junction in a patient with Sly syndrome.27
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91. Ransford AO, Crockard HA, Stevens JM, et al: Occipito-atlanto-
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93. Renteria VG, Ferrans VJ, Roberts WC: The heart in the Hurler
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98. Schmidtchen A, Greenberg D, Zhao HG, et al: NAGLU muta-
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CHAPTER 40  Skeletal Dysplasias e471
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103. Singh J, Di Ferrante N, Niebes P, et al: N-acetylgalactosamine-6-
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107. Svensson O, Aaro S: Cervical instability in skeletal dysplasia:
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108. Takeda E, Hashimoto T, Tayama M, et al: Diagnosis of atlantoaxial
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111. Thorne JA, Javadpour M, Hughes DJ, et al: Craniovertebral
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113. Timms KM, Bondeson ML, Ansari-Lari MA, et al: Molecular and
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114. Timms KM, Edwards FJ, Belmont JW, et al: Reassessment of
biochemically determined Hunter syndrome carrier status by
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115. Tobias JD: Anesthetic care for the child with Morquio syndrome:
general versus regional anesthesia, J Clin Anesth 11:242,
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Course Lect 39:399, 1990.
117. Tomatsu S, Okamura K, Taketani T, et al: Development and
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tissues and for rapid prenatal diagnosis of Hurler disease, J Inherit
Metab Dis 14:134, 1991.
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syndrome: a primary defect in beta-galactosidase, Am J Med
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of carpal tunnel syndrome and trigger digits in children with
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J Pediatr Orthop B 14:42, 2005.
e472 SECTION VII  Other Orthopaedic Disorders
124. Vellodi A, Young E, New M, et al: Bone marrow transplantation
for Sanfilippo disease type B, J Inherit Metab Dis 15:911, 1992.
125. Verrips A, van Engelen BG, ter Laak H, et al: Scheie syndrome
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Niemann-Pick Disease
Niemann-Pick disease is a rare inherited disorder character-
ized by deposition of sphingomyelin in various organs. It has
been subtyped into three major forms. In types A and B, a
deficiency in sphingomyelinase results in the accumulation
of large foam cells containing phospholipids.1 Type A mani-
fests with severe neurodegeneration in infancy and is lethal.
Type B manifests in childhood and has a milder course,
without neurologic involvement.5 Type C is caused by a
defect in cholesterol transport that results in the accumula-
tion of intracellular, unesterified cholesterol.8 All three dis-
orders are inherited as autosomal recessive traits. The gene
for type C has been localized to chromosome 18, with a
mutation in the NPC1 gene demonstrable in 95% of affected
patients.2,7
All three forms produce hepatosplenomegaly, whereas
types A and C cause neurologic deterioration and mental
retardation. Neurologic symptoms include progressive
ataxia, dystonia, dysarthria, and dementia.11 Atherosclerotic
heart disease is common.6 Progressive hepatosplenomegaly,
thrombocytopenia, and pulmonary compromise have been
documented in longitudinal studies of patients with type B
Niemann-Pick disease.9 Patients with type B disease also
have growth retardation and delayed skeletal maturity.10
There are early reports of treatment with substrate
reduction therapy (miglustat) in type C disease.4 Bone
marrow transplantation has improved visceral involvement,
but severe neurologic deterioration still continues.3
References
Niemann-Pick Disease
1. Brady RO, Kanfer JN, Mock MB, et al: The metabolism of sphin-
gomyelin. II. Evidence of an enzymatic deficiency in Niemann–
Pick disease, Proc Natl Acad Sci U S A 55:366, 1966.
2. Carstea ED, Polymeropoulos MH, Parker CC, et al: Linkage of
Niemann–Pick disease type C to human chromosome 18, Proc
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3. Hsu YS, Hwu WL, Huang SF, et al: Niemann–Pick disease type
C (a cellular cholesterol lipidosis) treated by bone marrow trans-
plantation, Bone Marrow Transplant 24:103, 1999.
4. Lachmann RH, te Vruchte D, Lloyd-Evans E, et al: Treatment with
miglustat reverses the lipid-trafficking defect in Niemann–Pick
disease type C, Neurobiol Dis 16:654, 2004.
5. Levran O, Desnick RJ, Schuchman EH, et al: Niemann–Pick type
B disease: identification of a single codon deletion in the acid
sphingomyelinase gene and genotype/phenotype correlations in
type A and B patients, J Clin Invest 88:806, 1991.
6. McGovern MM, Pohl-Worgall T, Deckelbaum RJ, et al: Lipid
abnormalities in children with types A and B Niemann Pick
disease, J Pediatr 145:77, 2004.
7. Vanier MT, Millat G: Niemann–Pick disease type C, Clin Genet
64:269, 2003.
8. Vanier MT, Pentchev P, Rodriguez-Lafasse C, et al: Niemann–Pick
disease type C: an update, J Inherit Metab Dis 14:580, 1991.
9. Wasserstein MP, Desnick RJ, Schuchman EH, et al: The natural
history of type B Niemann–Pick disease: results from a 10-year
longitudinal study, Pediatrics 114:e672, 2004.
10. Wasserstein MP, Larkin AE, Glass RB, et al: Growth restriction in
children with type B Niemann–Pick disease, J Pediatr 142:424,
2003.
11. Zafeiriou DI, Triantafyllou P, Gombakis MP, et al: Niemann–Pick
type C disease associated with peripheral neuropathy, Pediatr
Neurol 29:242, 2003.
 C H A P T E R 4 1 

Orthopaedic- John A. Herring

Related Syndromes
Chapter Outline
Marfan Syndrome
Hereditary Progressive Arthro-ophthalmopathy
(Stickler Syndrome)
Congenital Contractural Arachnodactyly
(Beals Syndrome)
Homocystinuria
Nail-Patella Syndrome (Hereditary
Onycho-osteodysplasia)
Larsen Syndrome
Down Syndrome (Trisomy 21)
Neurofibromatosis
Fibrodysplasia Ossificans Progressiva
Ehlers-Danlos Syndrome
Gaucher Disease
Arthrogryposis (Arthrogryposis Multiplex
Congenita)
Craniocarpotarsal Dysplasia (Freeman-Sheldon or
Whistling Face Syndrome)
Cornelia de Lange Syndrome
Rubinstein-Taybi Syndrome
Otopalatodigital Syndrome
Proteus Syndrome
Klippel-Trénaunay Syndrome
Metatropic Dwarfism (Dysplasia)
Camptomelic Dysplasia
Chondroectodermal Dysplasia (Ellis–van Creveld
Syndrome)
Asphyxiating Thoracic Dysplasia (Jeune Disease)
Marfan Syndrome
Patients with Marfan syndrome are a clinically diverse
group, but they classically exhibit tall stature, long thin
limbs, long thin spider-like digits (arachnodactyly), disloca-
tion of the ocular lens, and cardiac anomalies. In 1896,
Marfan, a French pediatrician, described to his colleagues
the clinical features of Gabrielle, a 5-year-old girl with long
thin limbs (leading him to describe the girl’s condition by
the term dolichostemelia), spider-like digits, and joint con-
tractures that prevented her from walking.54 In 1902,
Achard named the syndrome arachnodactyly,2 although
Marfan considered this characterization too limited. Boerger
in 1914 identified the characteristic ocular anomaly of lens
dislocation (ectopia lentis).9 Weve in 1931 demonstrated
that this syndrome was an autosomal dominant condition.108
It was only after the identification of associated cardiac
anomalies by Baer and colleagues in 1943 that the
description of the major features of Marfan syndrome was
complete.4 Ironically, the diagnosis of Marfan’s first patient
has been challenged by Hecht and Beals,35 who believe that
Gabrielle’s condition was more likely Beals syndrome5
because apparently she lacked the typical ocular and cardiac
anomalies associated with Marfan syndrome.*
A comparison of Marfan’s drawing of Gabrielle’s limb
and digital anomalies (Fig. 41-1) with the features of Beals
syndrome supports Hecht and Beals’ argument. A thorough
and detailed description of Marfan syndrome is provided by
Godfrey,27 and Steel offers an entertaining review of the
history of the description’s evolution.96 Excellent reviews of
Marfan syndrome have been published by several other
authors.26,37,45,64,72
Heredity and Incidence
Marfan syndrome is transmitted in an autosomal dominant
manner. There is great variability in the nature and severity
of clinical manifestations, and an unwary physician may
not recognize the syndrome in mildly affected patients.
Although a family history of Marfan syndrome is an impor-
tant diagnostic criterion, the incidence of spontaneous
mutations is thought to be between 15% and 30%. The lack
of a specific laboratory test to confirm the diagnosis of
Marfan syndrome and the variable clinical expression of the
disorder, including mild manifestations, make it difficult to
estimate its incidence with certainty. The prevalence is
thought to be approximately 1/5,000 population in the
United States.37
Genetics
Marfan syndrome is caused by a defective gene, FBN1,
located on the long arm of chromosome 15.19,20,46,101 This
gene encodes for fibrillin-1, a large glycoprotein closely asso-
ciated with elastin. The biochemistry of fibrillin correlates
with the syndromic features of Marfan and Beal syndromes.
Fibrillin monomers normally link head to tail in forming
microfibrils, which form two- and three-dimensional struc-
tures that add elasticity to tissues. Abnormal or absent
fibrillin alters tissue elasticity.14 Fibrillin also alters the bio-
availability of transforming growth factor-β (TGF-β). In
addition to their presence in the aortic media and suspen-
sory ligaments of the lens, fibrillin microfibrils are found in
skin, tendon, cartilage, and periosteum.†
In contradistinction, the much rarer Beals syndrome is
caused by a defective gene, FBN2, located on chromosome
5, which encodes for the glycoprotein fibrillin-2.
*References 25, 27, 29, 44, 59, 73, 74, 75, 78, 96.
†
References 10, 34, 52, 55, 56, 57, 66, 70, 71, 76, 79, 80, 105.

e473
e474 SECTION VII  Other Orthopaedic Disorders
FIGURE 41-1  The extremities of Gabrielle, as drawn by Marfan.
Their appearance is remarkably similar to that of patients now
identified as having Beals syndrome (see Figs. 41-6 and 41-7),
leading Hecht and Beals to contend that Marfan’s patient actually
had congenital contractural arachnodactyly.34
Despite the identification of the specific gene defect that
causes Marfan syndrome, there is no laboratory test to
confirm or exclude the diagnosis categorically, partly because
many mutations of the gene have been identified, even
within specific families known to harbor the defect. Thus
the diagnosis is based on the presence and severity of the
clinical manifestations of the disease.59
Clinical Features
A person with classic, florid, Marfan syndrome is easily
recognized as an unusually tall, lanky individual with
arachnodactyly, disproportionately long arms, chest wall
deformity, extreme myopia, and a loud cardiac murmur
(Fig. 41-2).‡
Many patients have much less florid manifestations,
however, and the clinician should rely on an awareness of
the condition and strict fulfillment of specific criteria to
make the diagnosis. Some individuals may have subtle
deformities suggestive of the condition, including a taller
than average appearance, ligamentous laxity, myopia, and
minimal cardiac abnormalities, such as mild mitral valve
prolapse. In the past, such patients were characterized as
having forme fruste Marfan syndrome.28,75,81,83,96 However,
as Pyeritz and colleagues noted,75 including such patients in
this vague category does not help elucidate the nature of
the condition or aid in its management, and this practice
should be discouraged. Unfortunately, the large number of
FBN1 gene mutations that have been identified in clear
cases of Marfan syndrome suggests that further appreciation
of the gene defects may not simplify the diagnosis.
A number of historical figures are thought to have had
Marfan syndrome, the most famous being Abraham
Lincoln.85 Although Lincoln was tall and lanky and had large
hands, lending credence to this suggestion, he had no known
family history of the disorder and no cardiac anomalies, and
he wore glasses for reading only after 50 years of age.96 Thus
it is unlikely that Lincoln had Marfan syndrome. Examina-
tion of bloodstains from Lincoln’s garments may allow the
‡
References 25, 27, 29, 37, 44, 45, 59, 73, 74, 75, 78, 96.
FIGURE 41-2  Clinical appearance of a patient with Marfan
syndrome. Note the extreme myopia (represented by thick
corrective lenses), severe pectus excavatum, long limbs, and
arachnodactyly. The patient also has scoliosis and severe
planovalgus feet. This appearance is typical of patients with florid
manifestations of the syndrome.
diagnosis to be specifically confirmed or excluded by a
search for the causative gene in these samples.27 More likely
to have been affected with Marfan syndrome were violinist
Nicolo Paganini25,84 and composer Sergei Rachmaninoff.25
Certain to have had Marfan syndrome was U.S. volleyball
player Flo Hyman,25 whose 1986 death on the volleyball
court emphasizes the importance of identifying the pres-
ence of the condition and screening for its sequelae.
Stature and Proportion
Patients with Marfan syndrome are typically tall—usually
attaining a height greater than 6 feet in adult life—and have
disproportionately long, thin limbs. The distal bones of the
limbs exhibit the excess length most strikingly, resulting in
long slender hands and feet, with spider-like digits (arach-
nodactyly). The ratio of the upper body segment (measured
from the top of the symphysis pubis to the top of the head,
or by subtracting the measurement of the lower body
segment from the total height) to the lower body segment
(measured from the sole to the top of the symphysis pubis)
is abnormally low (the upper body–to–lower body ratio is
0.93 in the normal adult population). In addition, the arm
span usually exceeds the patient’s total height.
Skull and Facies
Patients with Marfan syndrome often have a high-arched
palate, a long narrow face; and prognathism. The increased
height of the skull is associated with enlargement of the
frontal sinus.
 CHAPTER 41  Orthopaedic-Related Syndromes e475

A B
FIGURE 41-3  Clinical signs suggestive of, but not pathognomonic for, Marfan syndrome. They result from a combination of joint laxity
and long limbs or arachnodactyly. A, Thumb sign. With the thumb opposed across the palm and the fingers flexed over the thumb, the
distal phalanx of the thumb protrudes beyond the ulnar border of the hand. B, Wrist sign. When the patient encircles the opposite wrist
with the thumb and small finger, these digits overlap at least to the distal interphalangeal joint of the small finger.

Dislocations of the hip, either developmental95 or present-

Eyes
The hallmark of ocular involvement is ectopia lentis (dislo-
cated lens) caused by lax or broken suspensory ligaments
(zonules). The lens typically dislocates upward and laterally
and may manifest as iridodonesis (fluttering of the iris). The
dislocation is best seen on slit lamp examination after dila-
tion of the pupil. There is usually extreme myopia as a
consequence of changes in the shape of the globe. Strabis-
mus, cataract, glaucoma, and detached retina also may
occur.
Cardiovascular System
Dilation of the ascending aorta and mitral valve insuffi-
ciency are the most common associated cardiovascular
anomalies.§
Ascending aortic dilation may result in aortic valvular
incompetence and frequently leads to the formation of a
dissecting aneurysm. Aneurysms and dissections may also
occur in the descending or thoracoabdominal aorta. In a
review of 732 cases of Marfan syndrome followed for 6
years, there were five deaths and two aortic dissections.
These events were four times more likely to occur if the
aortic diameter exceeded 50 mm.40 These cardiovascular
anomalies are the most frequent cause of death in patients
with Marfan syndrome, and their presence must be care-
fully sought.‖
Other Skeletal Manifestations
Pectus excavatum is common and is caused by excessive
longitudinal growth of the ribs. The anteroposterior (AP)
diameter of the thoracic cage is reduced. Recurrence after
surgical correction is more common than in the general
population.3,106 Pectus carinatum is also frequently seen in
patients with Marfan syndrome.
Joint laxity is another hallmark of the disease.
Marked pes planovalgus and genu recurvatum are typical.
§
References 4, 7, 12, 17, 24, 29, 30, 31, 33, 49, 57, 58, 61, 68, 77,
81, 82, 86, 87.
‖ ¶
References 12, 17, 29, 30, 31, 39, 49, 60.
ing later, and of other joints can occur. Perilunate disloca-
tions have been reported and are caused by excessive carpal
ligamentous laxity.69 Extreme planovalgus deformity of the
feet is a common feature. The combination of joint laxity
and long digits results in several clinical signs indicative of,
but not pathognomonic for, Marfan syndrome. One of these
is the thumb sign (Fig. 41-3, A), in which the nail of the
flexed thumb extends beyond the ulnar border of the
clenched fist. Although first reported by Parker and Hare,67
this is often referred to as the Steinberg sign, because Stein-
berg recommended that it be used as routine screening for
Marfan syndrome.97 The wrist sign refers to the patient’s
ability to encircle the opposite wrist with the thumb and
small finger, with the thumb overlapping the terminal
phalanx of the small finger (see Fig. 41-3, B).104 The cross-
leg sign is the ability to touch the floor with the foot of the
crossing-over leg.
The vertebral column is significantly affected in patients
with Marfan syndrome.13, 18, 41, 42, 51, 62 Radiographs typically
show tall vertebral bodies with elongated transverse pro-
cesses. The position of the sacrum is low in relation to the
iliac crests. The spinal canal may appear widened in the
lumbar region, with concavity of the posterior borders of
the vertebral bodies. Increased localized kyphosis and evi-
dence of ligamentous instability have been noted in the
cervical spine.38 Scoliosis is common, reported in 30% to
100% of patients.¶ The curve pattern in Marfan syndrome
is often double or multiple. Pain is frequently associated
with these curves.22,91,98 Spondylolisthesis of L5-S1 is also
relatively common in Marfan syndrome.91,99,109 Several cases
of atlantoaxial rotatory instability have been reported in
patients with Marfan syndrome, including one case of
sudden death.36,53
Other Associated Anomalies
Other anomalies associated with Marfan syndrome include
polysyndactyly, myopathy, talipes equinovarus, muscular
References 8, 18, 41, 42, 44, 51, 60, 78, 83, 89, 91, 93, 98, 99, 106.
e476 SECTION VII  Other Orthopaedic Disorders
Box 41-1  Diagnostic Criteria for Marfan Syndrome
SKELETAL SYSTEM
For the skeletal system to be considered involved, at least two
major criteria or one major criterion plus two minor criteria must
be present.
MAJOR CRITERIA
• Pectus carinatum
• Pectus excavatum requiring surgery
• Reduced upper segment–to–lower segment ratio, or arm
span–to-height ratio > 1.05
• Wrist and thumb signs
• Scoliosis > 20 degrees or spondylolisthesis
• Reduced extension at the elbows (<170 degrees)
• Medial displacement of the medial malleolus, causing pes
planus
• Protrusio acetabuli of any degree (ascertained on
radiographs)
MINOR CRITERIA
• Pectus excavatum of moderate severity
• Joint hypermobility
• High-arched palate with crowding of teeth
• Facial appearance (dolichocephaly, malar hypoplasia,
enophthalmos, retrognathia, down-slanting palpebral
fissures)
OCULAR SYSTEM
In addition to the major criterion, at least two minor criteria
must be present for the ocular system to be considered involved.
MAJOR CRITERION
• Ectopia lentis
MINOR CRITERIA
• Abnormally flat cornea (as measured by keratometry)
• Increased axial length of globe (as measured by
ultrasonography)
• Hypoplastic iris or hypoplastic ciliary muscle causing
decreased miosis
CARDIOVASCULAR SYSTEM
For the cardiovascular system to be considered involved, one
major criterion or one minor criterion must be present.
MAJOR CRITERIA
• Dilation of the ascending aorta with or without aortic
regurgitation and involving at least the sinuses of Valsalva
• Dissection of the ascending aorta
MINOR CRITERIA
• Mitral valve prolapse, with or without mitral valve
regurgitation
• Dilation of the main pulmonary artery, in the absence of
valvular or peripheral pulmonic stenosis or any other obvious
cause, in a patient <40 years
• Calcification of the mitral annulus in a patient <40 years
• Dilation or dissection of the descending thoracic or
abdominal aorta in a patient <50 years
underdevelopment, and hypotonia. Protrusio acetabuli can
be seen radiographically and may manifest as hip pain and
stiffness in patients with Marfan syndrome.#
Inguinal, femoral, diaphragmatic, and incisional hernias
may be present. Subcutaneous fat is usually sparse. The skin
is relatively elastic, and striae may be present.
#
References 21, 44, 47, 48, 92, 96, 102, 103, 107.
PULMONARY SYSTEM
For the pulmonary system to be considered involved, at least
one minor criterion must be present.
MAJOR CRITERIA
• None
MINOR CRITERIA
• Spontaneous pneumothorax
• Apical blebs (ascertained by chest radiography)
SKIN AND INTEGUMENTARY SYSTEM
For the skin and integument to be considered involved, at least
one minor criterion must be present.
MAJOR CRITERIA
• None
MINOR CRITERIA
• Striae atrophicae (stretch marks)
• Recurrent or incisional hernia
DURA
For the dura to be considered involved, the major criterion must
be present.
MAJOR CRITERION
• Lumbosacral dural ectasia
MINOR CRITERIA
• None
FAMILY OR GENETIC HISTORY
For the family or genetic history to be considered contributory,
one major criterion must be present.
MAJOR CRITERIA
• Having a parent, child, or sibling who meets these diagnostic
criteria independently
• Presence of a mutation of FBN1 known to cause Marfan
syndrome
• Presence of a haplotype around FBN1, inherited by descent,
known to be associated with unequivocally diagnosed Marfan
syndrome in the family
MINOR CRITERIA
• None
REQUIREMENTS FOR A DIAGNOSIS OF MARFAN SYNDROME
FOR THE INDEX CASE
• If the family or genetic history is not contributory, major
criteria in at least two different organ systems and
involvement of a third organ system must be present.
• If a mutation known to cause Marfan syndrome in others
is detected, one major criterion in one organ system and
involvement of a second organ system must be present.
FOR A RELATIVE OF THE INDEX CASE
• Presence of a major criterion in the family history, and one
major criterion in one organ system and involvement of a
second organ system
Diagnosis
Although the defective gene for Marfan syndrome has been
identified, the diagnosis remains a clinical one, based on the
fulfillment of diagnostic criteria. These criteria were updated
by De Paepe and colleagues and are summarized in Box
41-1.16 In the past, an increased metacarpal length-to-width
ratio (metacarpal index) was thought to aid in the diagnosis

of Marfan syndrome. However, there is disagreement
regarding the usefulness and specificity of this radiographic
assessment, and it should probably not be used as a criterion
for the diagnosis of Marfan syndrome.15,43,63,100
Clinicians, particularly primary care physicians and those
working in scoliosis clinics, must be alert to the possibility
of this condition because the presenting anomaly is usually
scoliosis or a heart murmur. The physician should seek a
family history of the disorder or its manifestations, espe-
cially tall stature, ligament laxity, poor vision, cardiac anom-
alies, and sudden or premature death. The examiner should
check for the typical manifestations, including tall stature,
reduced upper body–to–lower body ratio, high-arched
palate, spinal deformity, thumb and wrist signs, and cardiac
murmur. A survey of patients presenting to a musculoskel-
etal practice found that craniofacial features, thumb and
wrist signs, pectus excavatum, and hindfoot valgus were the
physical features with the highest diagnostic yield.90 Con-
sultation should be sought with an ophthalmologist, who
should perform a slit lamp examination to identify the pres-
ence of a dislocated lens, and a cardiologist, who should
perform echocardiography to assess the diameter of the
aortic root and look for evidence of mitral valve prolapse.
As detailed in Box 41-1, for an individual with a family
history of Marfan syndrome (i.e., definite family history of
the disease or genetic confirmation in a first-order relative),
one major criterion in one organ system and involvement of
a second organ system are required to make the diagnosis.
For an individual with a noncontributory family history, the
presence of major criteria in at least two different organ
systems and involvement of a third organ system are
required to make the diagnosis of Marfan syndrome.
Differential Diagnosis
A number of conditions have clinical features suggestive of
Marfan syndrome and should be considered in the differ-
ential diagnosis. The principal considerations for orthopae-
dic surgeons are homocystinuria, congenital contractural
arachnodactyly (Beals syndrome), and juvenile ophthalmo-
arthropathy (Stickler syndrome).
Homocystinuria
Homocystinuria can closely resemble Marfan syndrome
clinically. Patients whose appearance suggests Marfan syn-
drome and who have mental retardation or mental defi-
ciency should be suspected of having homocystinuria. This
diagnosis can be confirmed by testing the urine for the pres-
ence of excessive homocystine or its byproducts (see later,
“Homocystinuria”).
Congenital Contractural Arachnodactyly
Congenital contractural arachnodactyly (Beals syndrome)
also shares some phenotypic similarities with Marfan syn-
drome, in that patients have long extremities and usually
marked arachnodactyly. However, the condition appears to
occur sporadically and is essentially obvious from birth, and
affected patients have joint contractures rather than liga-
mentous laxity and more problematic kyphoscoliosis rather
than the scoliosis seen in Marfan’s syndrome. As noted
earlier, Beals syndrome is caused by an abnormality of
fibrillin-2 due to a defect in the FBN2 gene located on
CHAPTER 41  Orthopaedic-Related Syndromes e477
chromosome 5 (see later, “Congenital Contractural
Arachnodactyly”).
Hereditary Juvenile Ophthalmoarthropathy
Patients with Stickler syndrome have some phenotypic fea-
tures similar to those of Marfan patients in that they tend
to have long thin limbs (dolichostemelia); this condition is
also autosomal dominant, so a family history is often found.
However, Stickler syndrome has features of a skeletal dys-
plasia radiographically. Furthermore, the primary ocular
manifestation is a tendency toward retinal detachment,
which also occurs in patients with Marfan syndrome, but
much less frequently than lens dislocation (see later,
“Hereditary Progressive Arthro-ophthalmopathy”).
Other Conditions
Other conditions with features of Marfan syndrome primar-
ily affecting organ systems other than the skeletal system
must be considered by geneticists, ophthalmologists, and
cardiologists. They include familial thoracic aortic aneu-
rysm, familial aortic dissection, familial ectopia lentis,
familial Marfan-like habitus, MASS (myopia, mitral valve
prolapse, mild aortic regurgitation, and skin [striae] and
skeletal [minor Marfan’s criteria] involvement) phenotype,
and Shprintzen-Goldberg syndrome (Marfan-like skeletal
changes, craniosynostosis, neurodevelopmental abnormali-
ties, and occasionally aortic dilation).16,27
Treatment
Although there is no specific treatment for patients with
Marfan syndrome, physicians should be alert to the various
manifestations that may be initial evidence of the disorder.
Orthopaedic surgeons should assure themselves that
patients presenting with flatfeet, joint instability, or scoliosis
do not have other manifestations of Marfan syndrome. If
the skeletal features are consistent with those of Marfan
syndrome, a cardiologist and ophthalmologist should be
consulted.
Cardiovascular System
The most common cardiovascular manifestations of Marfan
syndrome are mitral valve prolapse, with or without regur-
gitation, and aortic aneurysm. Aortic aneurysm most com-
monly involves the ascending aorta and can lead to aortic
valve incompetence or dissection of the aortic wall. All
patients suspected of having Marfan syndrome should be
evaluated by a cardiologist, and echocardiography should be
performed to evaluate for the presence of these two condi-
tions. Patients with confirmed Marfan syndrome should
undergo serial echocardiography to monitor for progressive
dilation of the aortic root, which normally measures approx-
imately 3 cm in adults, depending on body size. Prophylac-
tic aortic root resection is recommended when the dilation
reaches 5 to 6 cm; it is important to monitor this condition
in confirmed cases of Marfan syndrome because aortic aneu-
rysm rupture is the most common cause of death in patients
with the syndrome, and the perioperative mortality is much
higher in urgent or emergent repairs than in elective
repairs.*a
*aReferences 12, 17, 24, 29, 30, 31, 39, 49, 61, 68, 77, 82, 86, 87.
e478 SECTION VII  Other Orthopaedic Disorders
A B
FIGURE 41-4  Protrusio acetabuli in a 14-year-old boy with Marfan syndrome. A, Note the crossing or collapse of the acetabular teardrop.
Pain and stiffness of the hip were the presenting manifestations in this patient. B, Radiographic appearance 1 year after surgical closure of
the triradiate cartilage, as described by Steel.96 There was significant resolution of pain and stiffness.
Another treatment to be considered is the use of
β-blockers, which slow the rate of aortic root dilation
in adults.31,33,59,86,87 Some authors also recommend their
use in children. Finally, cardiologists often exclude
children with Marfan syndrome from contact sports or
strenuous activities because of the increased incidence of
sudden death related to the cardiac manifestations of the
syndrome.
Skeletal System
Scoliosis
Scoliosis is one of the most common and important mani-
festations of Marfan syndrome from an orthopaedic per-
spective and is often the presenting complaint. The incidence
of scoliosis is 30% to 100% in different series,†a with the
variation likely related to the heterogenicity of study popu-
lations. The treatment of scoliosis in patients with Marfan
syndrome parallels that in patients with idiopathic scoliosis.
In general, observation is sufficient for curves less than 25
degrees, bracing should be considered for progressive curves
greater than 25 to 30 degrees, and spinal fusion and instru-
mentation should be considered for curves greater than 45
to 50 degrees. However, the results of scoliosis treatment
in patients with Marfan syndrome differ from the results in
those with idiopathic scoliosis.‡a
Specifically, most reports indicate poor patient tolerance
of bracing and a relatively high frequency of deformity
progression, despite bracing. Vertebral stapling has been
reported to have a high failure rate.65 In younger patients,
growing rods may be considered, but again with a fairly high
rate of complications.94 One case is reported of heart failure
†a
References 8, 18, 25, 27, 41, 42, 44, 51, 74, 78, 83, 89, 91, 111.
‡a
References 1, 6, 8, 18, 41, 42, 44, 51, 78, 83, 89, 93, 99, 110.
after rod lengthening, with resolution of the failure with
relief of the distraction.88
Surgical management is recommended for larger curves.
Some authors report success with posterior fusion alone,
whereas others recommend combined anterior posterior
fusion.50Anterior instrumentation and fusion alone have not
been successful.112 Marfan’s patients undergoing spinal
fusion and instrumentation may have a higher likelihood of
pseudarthrosis, mandating secure instrumentation and
careful observation for its development.
In addition to scoliosis, kyphotic deformities and spon-
dylolisthesis occur regularly in patients with Marfan syn-
drome. These deformities may require treatment, using the
same guidelines that apply to patients without Marfan syn-
drome. Finally, patients with Marfan syndrome have a
higher incidence of back pain, with or without spinal defor-
mity, which may require symptomatic care.22,91,98,99,109
Protrusio Acetabuli
Another skeletal manifestation of Marfan syndrome is pro-
trusio acetabuli.21,44,47,48,92
This condition102,103,107 is characterized clinically by hip
joint stiffness and pain and radiographically by collapse of
the acetabular teardrop (Fig. 41-4). Steel described surgical
closure of the triradiate cartilage in skeletally immature
patients who were symptomatic or in whom increasing
acetabular deepening was demonstrated radiographically.96
In his report on 19 hips followed to skeletal maturity,
radiographic indices normalized in 12, improved in 4, and
were unchanged in 3 (these 3 patients were operated on
between 13 and 14 years of age); all hips were asymptom-
atic. He recommended surgical closure of the triradiate
cartilage for patients between 8 and 10 years of age; older
patients had symptomatic relief but little improvement in
the radiographic appearance of their hips. Others have
reported that the incidence of protrusio acetabuli in patients

with Marfan syndrome is as high as 31%; however, not
all patients are symptomatic, and prophylactic closure of
the triradiate cartilage in asymptomatic patients is not
recommended.21,92,102,103
Developmental Dysplasia of the Hip
Patients with Marfan syndrome may present with develop-
mental dysplasia of the hip as newborns or infants.95 In one
report, Pavlik harness treatment was unsuccessful in obtain-
ing reduction of the hip, and closed reduction and spica cast
immobilization under anesthesia were required. However,
the affected hips stabilized in the usual amount of time, and
further treatment was not required.95
Generalized Joint Laxity
The generalized joint laxity that characterizes patients with
Marfan syndrome may manifest as severe pes planovalgus
or joint dislocations,44,74 especially of the patellofemoral
joint. In general, treatment of these conditions should be as
conservative as possible because obtaining and maintaining
joint stability can be difficult in these patients.
Infantile Marfan Syndrome
A rare variant of Marfan syndrome is a relatively severe
form presenting in infancy known as infantile or congenital
Marfan syndrome.11,23,32,60,93,105 The clinical characteristics,
as described by Morse and colleagues, include serious
cardiac pathology (often present at birth), congenital con-
tractures (64% of their cases; 47% of cases reported in
the literature), arachnodactyly, dolichocephaly, high-arched
palate, micrognathia, hyperextensible joints, pes planus,
anterior chest deformity, iridodonesis, megalocornea, and
dislocated lenses.60 Cardiac anomalies include mitral valve
prolapse, valvular regurgitation, and aortic root dilation.
Three of the 22 patients identified by Morse and colleagues
died during the first year of life; one third of the survivors
developed severe scoliosis, joint dislocations, or both.60
Sponseller and associates reported that of 14 patients with
infantile scoliosis (onset before age 3 years) and Marfan’s
syndrome, 4 died during treatment.93 Most cases of infan-
tile Marfan syndrome are likely caused by a sporadic muta-
tion in a single germ cell of one parent because there was
a positive family history in only one patient in each
series.60,93
Prognosis
In 1972, the predicted average life span of patients with
true Marfan syndrome was 45 years, with premature
deaths (almost all a result of cardiac complications) occur-
ring at an average age of 32 years.61 Beginning with the
introduction of aortic root surgery by Bentall and De
Bono,7 the life span of Marfan’s patients has substan-
tially increased.17,24,30,39,87 With periodic echocardiographic
screening, treatment with β-blockers, and early elective
aortic root surgery, the predicted average life span has
increased to 72 years, with premature deaths occurring at
an average age of 41 years.87 These improvements and an
appreciation of the potentially dire consequences of not
identifying the condition should remind orthopaedists to
be alert for this syndrome.
CHAPTER 41  Orthopaedic-Related Syndromes e479
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CHAPTER 41  Orthopaedic-Related Syndromes e481
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Hereditary Progressive Arthro-
ophthalmopathy (Stickler Syndrome)
Hereditary progressive arthro-ophthalmopathy is an autoso-
mal dominant disorder that was first described in 1965 by
Stickler and associates.17,18 It is more commonly referred to
as Stickler syndrome. Genetic linkage analyses in some
families suggest that the disorder is due to a mutation of
the COL2A1 gene, which encodes for type II collagen.1,10,20
Other studies have identified homozygous loss-of-function
mutations in COL9A1, COL9A2, and COL9A3 genes,
which code for collagen IX.4
Clinical Features
Clinically, the condition is characterized by mild hereditary
spondyloepiphyseal dysplasia, premature degenerative
arthritis, hearing loss, and congenital myopia that is com-
pounded over time by chorioretinal degeneration and retinal
detachment.3,4,15,20-22 In addition, patients often have micro-
gnathia or cleft palate, somewhat reminiscent of Pierre
Robin syndrome.7,19 Mandibular lengthening is feasible and
may eliminate the need for tracheostomy.12 Herr­mann and
associates called attention to Stickler syndrome in the
1970s, believing that it was underdiagnosed and might be
confused with Pierre Robin syndrome.5,9,11 Establishing a
correct diagnosis is important because of the genetic impli-
cations and the need for periodic ophthalmologic assessment
because retinal detachment occurs and is preventable.3,11
Orthopaedic Manifestations
The orthopaedic manifestations consist of a mild spondy-
loepiphyseal dysplasia.8 Coxa valga with or without acetabu-
lar protrusion, acetabular dysplasia, valgus slipped capital
e482 SECTION VII  Other Orthopaedic Disorders
femoral epiphysis, and hip subluxation have been
described.6,14,16 Typically, early degenerative changes occur
in the hip because of the dysplasia. The digits may have
fusiform enlargement. Vertebral body changes are similar to
those of Scheuermann kyphosis. End-plate irregularities are
seen, and scoliotic or kyphotic deformities can occur.13
Reduced bone mass and reduced bone turnover may account
for some of the skeletal manifestations.2
Treatment includes genetic counseling concerning the
autosomal dominant trait and referral to an ophthalmologist
for the management of eye complications. Progressive sco-
liosis or kyphosis may require orthotic treatment or spinal
fusion. Total joint arthroplasty may be necessary in midlife
because of premature degenerative joint disease.
References
Hereditary Progressive Arthro-ophthalmopathy
(Stickler Syndrome)
1. Ahmad NN, McDonald-McGinn DM, Zackai EH, et al: A second
mutation in the type II procollagen gene (COL2AI) causing Stick-
ler syndrome (arthro-ophthalmopathy) is also a premature termi-
nation codon, Am J Hum Genet 52:39, 1993.
2. Al Kaissi A, Roschger P, Nawrot-Wawrzyniak K, et al: Evidence of
reduced bone turnover and disturbed mineralization process in a
boy with Stickler syndrome, Calcif Tissue Int 86:126, 2010.
3. Antunes RB, Alonso N, Paula RG: Importance of early diagnosis
of Stickler syndrome in newborns, J Plast Reconstr Aesthet Surg
65:1029, 2012.
4. Baker S, Booth C, Fillman C, et al: A loss of function mutation in
the COL9A2 gene causes autosomal recessive Stickler syndrome,
Am J Med Genet A 155A:1668, 2011.
5. Baraitser M: Marshall/Stickler syndrome, J Med Genet 19:139,
1982.
6. Bennett JT, McMurray SW: Stickler syndrome, J Pediatr Orthop
10:760, 1990.
7. Kelly TE, Wells HH, Tuck KB: The Weissenbacher-Zweymuller
syndrome: possible neonatal expression of the Stickler syndrome,
Am J Med Genet 11:113, 1982.
8. Kozlowski K, Turner G: Stickler syndrome. Report of a second
Australian family, Pediatr Radiol 3:230, 1975.
9. Herrmann J, France TD, Spranger JW, et al: The Stickler syndrome
(hereditary arthroophthalmopathy), Birth Defects Orig Artic Ser
11:76, 1975.
10. Liberfarb RM, Hirose T, Holmes LB: The Wagner-Stickler
syndrome—a genetic study, Birth Defects Orig Artic Ser 15:145,
1979.
11. Liberfarb RM, Hirose T, Holmes LB: The Wagner-Stickler syn-
drome: a study of 22 families, J Pediatr 99:394, 1981.
12. Miloro M: Mandibular distraction osteogenesis for pediatric airway
management, J Oral Maxillofac Surg 68:1512, 2010.
13. Rose PS, Ahn NU, Levy HP, et al: Thoracolumbar spinal abnor-
malities in Stickler syndrome, Spine 26:403, 2001.
14. Rose PS, Ahn NU, Levy HP, et al: The hip in Stickler syndrome,
J Pediatr Orthop 21:657, 2001.
15. Say B, Berry J, Barber N: The Stickler syndrome (hereditary
arthro-ophthalmopathy), Clin Genet 12:179, 1977.
16. Shank CF, Thiel EJ, Klingele KE: Valgus slipped capital femoral
epiphysis: prevalence, presentation, and treatment options,
J Pediatr Orthop 30:140, 2010.
17. Stickler G, Belau P, Farrell F, et al: Hereditary progressive arthro-
opththalmopathy, Mayo Clin Proc 40:433, 1965.
18. Stickler G, Pugh D: Hereditary progressive arthro-ophthalmopathy.
II. Additional observations on vertebral anomalies, a hearing defect,
and a report of a similar case, Mayo Clin Proc 42:495, 1967.
19. Turner G: The Stickler syndrome in a family with Pierre Robin
syndrome and severe myopia, Aust Paediatr J 10:103, 1974.
20. Vintiner GM, Temple IK, Middleton-Price HR, et al: Genetic and
clinical heterogeneity of Stickler syndrome, Am J Med Genet
41:44, 1991.
21. Winter RM, Baraitser M, Laurence KM, et al: The Weissenbacher-
Zweymuller, Stickler, and Marshall syndromes: further evidence
for their identity, Am J Med Genet 16:189, 1983.
22. Zlotogora J, Sagi M, Schuper A, et al: Variability of Stickler syn-
drome, Am J Med Genet 42:337, 1992.
Congenital Contractural
Arachnodactyly (Beals Syndrome)
Congenital contractural arachnodactyly (CCA), or Beals
syndrome, is a rare condition that resembles and has been
confused with Marfan syndrome, including the case Marfan
described in 1896.§a
Epstein and associates described a case in 1968.6 In
1971, Beals and Hecht delineated this syndrome in a report
of two kindreds.3 CCA is usually differentiated from Marfan
syndrome by the absence of lens dislocation and aortic root
dilation (although eye and heart problems can occur)2 and
by the presence of joint contractures (maximal at the knee)
that spontaneously improve with growth and walking.
CCA is transmitted as an autosomal dominant trait.
Genetic linkage studies have identified the defect as a muta-
tion of the FBN2 gene located on chromosome 5, which
encodes for the protein fibrillin-2.8,22,26,29 (As noted earlier,
Marfan syndrome is caused by a mutation of FBN1 on
chromosome 15, which encodes for fibrillin-1.) Fibrillin is
a large glycoprotein and one of the structural components
of the elastin-associated microfibrils. The similarity of the
two FBN genes accounts for the phenotypic similarities
between CCA and Marfan patients, although definitive
amino acid sequence differences have been identified.7
Clinical Features
In patients with CCA, there is a tendency toward retro­
gnathia and a small mouth. The crumpled appearance of the
external ear is a distinctive clinical feature. It is caused by
extra and prominent crura in the antihelix, partial oblitera-
tion of the concha, and flattening of the helix (Fig. 41-5).
There may be mild restriction of range of motion of the
temporomandibular joints. Intelligence is generally normal,
although some cases of neurodevelopmental delay have
been reported.27,28
The initial descriptions of CCA suggested that patients
with this condition did not exhibit eye or heart abnormali-
ties. As more cases were described, however, it was observed
that these patients can have myopia1 and cardiac abnormali-
ties that are milder than those seen in Marfan syndrome
(typically, mitral valve prolapse with regurgitation).8,18,28,30
Aortic root enlargement has also been reported in three
cases.5 The extremities often exhibit muscle hypoplasia,
exacerbating patients’ asthenic appearance. The joint con-
tractures in CCA are present at birth. Knee flexion contrac-
ture is the most severe; it may be as great as 90 degrees
(Fig. 41-6) and may delay walking. The hips are normal.
The ankles may be in the calcaneus position, with limited
plantar flexion and excessive dorsiflexion; alternatively, they
may demonstrate vertical talus. In the hands and feet, there
§a
References 4, 9, 10, 13, 16, 17, 19, 21, 23, 24.

FIGURE 41-5  Infant with congenital contractural arachnodactyly
(Beals syndrome). The crumpled appearance of the external ear is
typical of this disorder.
FIGURE 41-6  Congenital contractural arachnodactyly (Beals
syndrome). Digital anomalies of the feet are similar to those of
the hands. Flexion contractures of the knees and elbows are often
severe at birth; they may improve with growth or require surgical
release. Calcaneus and toe deformities with arachnodactyly may
also require treatment.
are flexion contractures of the metacarpal phalangeal and
proximal interphalangeal joints (Fig. 41-7). The elbows do
not extend completely, and the forearms are restricted in
supination, pronation, or both. The joint contractures tend
to improve spontaneously with growth and development.
This restoration of joint motion may be almost complete,
making the diagnosis of CCA somewhat difficult in
adolescents.
CHAPTER 41  Orthopaedic-Related Syndromes e483
FIGURE 41-7  Congenital contractural arachnodactyly (Beals
syndrome). The fingers are very long (arachnodactyly), with
crossing of some digits. Contractures of the metacarpal phalangeal
and proximal interphalangeal joints are common.
The limbs, fingers, and toes are long and gracile (see Figs.
41-6 and 41-7). The long narrow foot may show metatarsus
varus. Vertical talus and equinovalgus are also common.
Progressive scoliosis develops in the spine and may be severe
(Fig. 41-8).
Radiographic Findings
Radiographs show the elongated appearance of the diaphy-
sis of the long bones, especially of the digits.11 Scoliosis is
evident, and osteopenia may also be present (see Fig.
41-8).12 Long bone films in infancy may suggest osteogenesis
imperfecta because of bowing and the appearance of dia­
physeal fragility (Fig. 41-9). Interestingly, birth fractures are
rare.14 Scoliosis is often evident early, with a characteristic
wedging or dysplasia of apical vertebrae, reminiscent of
neurofibromatosis (Fig. 41-10; see also Fig. 41-8).
Differential Diagnosis
CCA should be differentiated from Marfan syndrome,
homocystinuria, arthrogryposis multiplex congenita, and
Achard syndrome. Homocystinuria is distinguished by the
presence of lens dislocation, cardiovascular disease (espe-
cially thromboembolism), mental retardation, and charac-
teristic biochemical abnormalities in the urine and tissues.
These findings are usually not observed in CCA.
Arthrogryposis is characterized by congenital joint con-
tractures that are usually more rigid than those seen in
CCA, have little tendency to resolve, and are often associ-
ated with other structural anomalies such as talipes equi­
novarus, vertical talus, dislocated hips, and dislocated or
hyperextended knees.25
In Achard syndrome, arachnodactyly is present, but it
lacks the dolichostenomelia and contractures that are
present in CCA. Achard syndrome is differentiated from
Marfan syndrome by the absence of lens dislocation and
cardiac abnormalities.
Treatment
A cardiac examination, including echocardiography, should
be performed, with periodic reassessment as indicated.2
 A B
FIGURE 41-8  A, Congenital contractural arachnodactyly (Beals syndrome). This patient also developed early-onset thoracic scoliosis with
dysplastic vertebral elements. B, The scoliosis proved refractory to brace management and required spinal fusion and instrumentation at
age 4 years.

A B
FIGURE 41-9  A, Marked bowing and osteopenia in a patient (also shown in Fig. 41-6) with residual knee flexion contractures. The
appearance is reminiscent of osteogenesis imperfecta. B, Fixed flexion deformity of the knee.
 CHAPTER 41  Orthopaedic-Related Syndromes e485

Contracted joints are treated by gentle passive stretch-
ing exercises and splinting to maintain and increase range
of motion. Surgical soft tissue release, particularly of
the knee (where the flexion contracture is most severe),
should be delayed until the deformity is clearly impeding
normal ambulation. Such releases may not be required
at all, however, because the contractures tend to resolve
spontaneously.15
Joint contractures and finger deformities can resemble
those of arthrogryposis and are often treated similarly. The
scoliosis, however, may be progressive and severe, and
although orthotic management can be attempted, surgery is
often required. Significant deformity may result, similar to
infantile or neuromuscular scoliosis, requiring aggressive
treatment such as growing instrumentation20 and early
anterior and posterior fusion. Like other conditions in
which osteopenia coincides with dysplastic bone, fixation is
often tenuous in CCA, and there is a tendency toward
pseudarthrosis (see Fig. 41-10). Because CCA patients
are generally thin and asthenic, skin coverage for spinal
implants may be problematic, especially in young children
(see Fig. 41-10).
References
Congenital Contractural Arachnodactyly (Beals Syndrome)
1. Bard LA: Congenital contractural arachnodactyly and intraocular
colobomas, Birth Defects Orig Artic Ser 15:189, 1979.
2. Bawle E, Quigg MH: Ectopia lentis and aortic root dilatation in
congenital contractural arachnodactyly, Am J Med Genet 42:19,
1992.

A B C

D E F
FIGURE 41-10  A and B, A 2-year-old boy with congenital contractural arachnodactyly (Beals syndrome) and thoracolumbar scoliosis.
C and D, Radiographs demonstrate dysplastic vertebrae and sagittal plane deformities. E and F, The patient at age 3 years, 1 year after
anterior and posterior fusion with pediatric instrumentation. Because of wound dehiscence, the instrumentation became exposed and had
to be explanted, with resulting pseudarthrosis and loss of correction.
Continued
e486 SECTION VII  Other Orthopaedic Disorders
G H
FIGURE 41-10, cont’d  G and H, The patient at age 4 years 2 months. He underwent anterior and posterior osteotomies and revision of
instrumentation. I and J, The patient at age 6 years. The convex rod was removed 1 year postoperatively because of prominence and skin
erosion. The fusion mass appeared solid, and no further deformity has recurred.
3. Beals RK, Hecht F: Congenital contractural arachnodactyly. A heri-
table disorder of connective tissue, J Bone Joint Surg Am 53:987,
1971.
4. Bjerkreim I, Skogland LB, Trygstad O: Congenital contractural
arachnodactyly, Acta Orthop Scand 47:250, 1976.
5. Callewaert BL, Loeys BL, Ficcadenti A, et al: Comprehensive
clinical and molecular assessment of 32 probands with congenital
contractural arachnodactyly: report of 14 novel mutations and
review of the literature, Hum Mutat 30:334, 2009.
6. Epstein CJ, Graham CB, Hodgkin WE, et al: Hereditary dysplasia
of bone with kyphoscoliosis, contractures, and abnormally shaped
ears, J Pediatr 73:379, 1968.
7. Gupta PA, Putnam EA, Carmical SG, et al: Ten novel FBN2 muta-
tions in congenital contractural arachnodactyly: delineation of the
molecular pathogenesis and clinical phenotype, Hum Mutat 19:39,
2002.
8. Gupta PA, Wallis DD, Chin TO, et al: FBN2 mutation associated
with manifestations of Marfan syndrome and congenital contrac-
tural arachnodactyly, J Med Genet 41:e56, 2004.
9. Hale MS, Rodman HD, Lipshin J: Congenital contractural arach-
nodactyly, West J Med 120:74, 1974.
10. Hecht F, Beals RK: New syndrome of congenital contractural
arachnodactyly originally described by Marfan in 1896, Pediatrics
49:574, 1972.
11. Hernandez R, Poznanski AK, Hensinger R: Case Report 16, Skel-
etal Radiol 1:175, 1977.
12. Ho NK, Khoo TK: Congenital contractural arachnodactyly. Report
of a neonate with advanced bone age, Am J Dis Child 133:639,
1979.
13. Kontras SB: Congenital contractural arachnodactyly, Birth Defects
Orig Artic Ser 11:63, 1975.
14. Kupeli S, Korkmaz A, Bulun A, et al: Congenital contractural
arachnodactyly and femoral fracture in a newborn infant: a causal
relationship or a coincidence? Am J Perinatol 21:41, 2004.
15. Langenskiold A: Congenital contractural arachnodactyly. Report of
a case and of an operation for knee contracture, J Bone Joint Surg
Br 67:44, 1985.
I J
16. Lowry RB, Guichon VC: Congenital contractural arachnodactyly:
a syndrome simulating Marfan’s syndrome, Can Med Assoc J
107:531, 1972.
17. MacLeod PM, Fraser FC: Congenital contractural arachnodactyly.
A heritable disorder of connective tissue distinct from Marfan
syndrome, Am J Dis Child 126:810, 1973.
18. Macnab AJ, D’Orsogna L, Cole DE, et al: Cardiac anomalies com-
plicating congenital contractural arachnodactyly, Arch Dis Child
66:1143, 1991.
19. Marfan M: [Un cas de deformation congenitale des quatre
membres, plus prononcee aux extremites, caracterisee par
l’allongement des os avec un certain degre d’amincissement.] Bull
Soc Med Hop Paris 13:220, 1896.
20. Martin AG, Foguet PR, Marks DS, et al: Infantile scoliosis in Beals
syndrome: the use of a non-fusion technique for surgical correc-
tion, Eur Spine J 15:433, 2006.
21. McKusick VA, Traisman HS, Bianchine JW: More speculation on
Marfan syndrome, J Pediatr 80:530, 1972.
22. Park ES, Putnam EA, Chitayat D, et al: Clustering of FBN2 muta-
tions in patients with congenital contractural arachnodactyly indi-
cates an important role of the domains encoded by exons 24
through 34 during human development, Am J Med Genet 78:350,
1998.
23. Passarge E: A syndrome resembling congenital contractural arach-
nodactyly, Birth Defects Orig Artic Ser 11:53, 1975.
24. Penchaszadeh VB, Barreiro C, Groiso JA: Marfan syndrome
with congenital contractures, Birth Defects Orig Artic Ser 11:109,
1975.
25. Poznanski AK, La Rowe PC: Radiographic manifestations of the
arthrogryposis syndrome, Radiology 95:353, 1970.
26. Putnam EA, Zhang H, Ramirez F, et al: Fibrillin-2 (FBN2) muta-
tions result in the Marfan-like disorder, congenital contractural
arachnodactyly, Nat Genet 11:456, 1995.
27. Snape KM, Fahey MC, McGillivray G, et al: Long-term survival
in a child with severe congenital contractural arachnodactyly,
autism and severe intellectual disability, Clin Dysmorphol 15:95,
2006.

28. Su PH, Hou JW, Hwu WL, et al: Congenital contractural arach-
nodactyly (Beals syndrome), Acta Paediatr Taiwan 41:59, 2000.
29. Tsipouras P, Del Mastro R, Sarfarazi M, et al: Genetic linkage of
the Marfan syndrome, ectopia lentis, and congenital contractural
arachnodactyly to the fibrillin genes on chromosomes 15 and 5.
The International Marfan Syndrome Collaborative Study, N Engl
J Med 326:905, 1992.
30. Viljoen D, Ramesar R, Behari D: Beals syndrome: clinical and
molecular investigations in a kindred of Indian descent, Clin Genet
39:181, 1991.
Homocystinuria
Homocystinuria is an inborn error of methionine metabo-
lism inherited as an autosomal recessive trait. In its classic
form, it is caused by deficiency of the enzyme cystathionine
synthase, sometimes called cystathionine β-synthase or cys-
tathionine synthetase.‖a
Clinically, the disorder is characterized by mental retar-
dation, a tendency for thromboembolic complications, lens
dislocation (ectopia lentis), and various skeletal abnormali-
ties that strongly resemble those of Marfan syndrome. The
condition was first described by Field and associates16 in
1962 and was later reported independently by Gerritsen
and Waisman.18 Before these reports, cases of homocystin-
uria were likely misdiagnosed as Marfan syndrome,29 and
this probably still occurs.
The worldwide prevalence of homocystinuria is reported
to be approximately 1 in 335,000. This prevalence varies
regionally, from 1 in 65,000 in Ireland to 1 in 900,000 in
Japan. A bacterial inhibition assay or amino acid chromatog-
raphy can be used to screen children at birth for homocys-
tinuria; however, approximately 20% of documented cases
are missed by these methods. Because of the relatively low
prevalence of the disorder and inaccuracy of screening
methods, routine screening for homocystinuria has been
discontinued in many countries.32
Biochemical Defect and Pathophysiology
A deficiency in the enzyme cystathionine synthase (or
synthetase) blocks the conversion of homocysteine to
cystathionine (Fig. 41-11). The abnormally accumulated
homocysteine is converted to homocystine, causing an ele-
vated level of homocystine in the tissues and plasma and
the excretion of large quantities of homocystine in the
urine.12 The plasma concentration of methionine is also
increased. Cystathionine is normally present in brain tissue
and is a precursor to cysteine. In a homocystinuric patient,
cystathionine cannot be found in the brain, and cystine
becomes an essential amino acid for the patient.
There are several other extremely rare causes of homo-
cystinuria, such as vitamin B12 malabsorption syndrome
(Imerslund-Graesbeck syndrome), vitamin B6 depletion,
5-methyltetrahydrofolate-homocysteine methyltransferase
deficiency caused by defective production of cofactor meth-
ylcobalamin, and 5,10-methylene tetrahydrofolate reduc-
tase deficiency. The latter two causes of homocystinuria are
inheritable metabolic defects. In this chapter, only classic
homocystinuria is discussed.
‖a
References 2, 6, 11, 18, 19, 20, 23, 24, 26, 27, 31, 33, 36.
CHAPTER 41  Orthopaedic-Related Syndromes e487
Methionine
Folic acid
( ) Homocysteine Homocystine ( )
Cystathionine
synthetase Serine Cystine ( )
B6 (pyridoxine)
( ) Cystathionine Cysteine ( )
B6 (pyridoxine)
FIGURE 41-11  Normal metabolic pathway of methionine and
homocysteine. The arrows in parentheses show the consequences
of cystathionine synthetase deficiency, the enzymatic defect in
homocystinuria. Homocysteine is converted by cystathionine
synthetase to cystathionine, which is a precursor to cysteine and
is normally present in the brain. In homocystinuria, cystathionine
synthetase deficiency results in decreased quantities of
cystathionine, and it cannot be found in the brain; cystine
becomes an essential amino acid for these patients. The block
in the metabolic pathway leads to increased quantities of
homocystine (converted from homocysteine) in plasma, tissues,
and urine.
Clinical Features
The clinical features consist of a tendency toward venous
and arterial thrombosis,15,22 mental retardation,8,15,37 disloca-
tion of the lens,44 and skeletal changes resembling those of
Marfan syndrome, along with the additional findings of
osteoporosis and metaphyseal enlargement (particularly
around the knee).3,4,28,30,34,39
Vascular Changes
The lesions in the blood vessels consist of intimal fibrosis,
abnormality of the elastic laminae, atherosclerosis, and
thrombosis. Homocysteine itself is a very toxic substance,
causing endothelial lesions.13 Another factor in the patho-
genesis of thrombosis is platelet stickiness.40 Venous and
arterial thrombosis can become life-threatening. Death can
occur from myocardial infarction, pulmonary embolism,
mesenteric thrombosis, or cerebrovascular accident. About
20% of patients with homocystinuria develop serious
thrombosis. Because the incidence of venous thrombosis
is very high following surgery, the need for any surgery
must be considered carefully and if surgery is required,
antithrombotic measures must be taken to minimize the
danger.
Mental Retardation
Mental retardation is common but is not uniformly present;
some patients with homocystinuria have normal intelli-
gence.35 In those who are retarded, the IQ is usually about
50, and it can deteriorate with age. Whether the mental
retardation is caused by biochemical abnormalities or by
intermittent cerebral thrombosis is not certain. Hyperten-
sive hydrocephalus has been reported.9 In general, homo-
cystinuric patients who respond to pyridoxine (vitamin B6)
have less severe mental retardation. Adolescents with
e488 SECTION VII  Other Orthopaedic Disorders
homocystinuria may exhibit schizophrenia-like states.
Patients may develop seizures and have abnormal
electroencephalograms.
Dislocation of the Lens
Dislocation of the lens is not observed in infancy but
develops later in childhood. It appears to be caused by a
defective suspensory ligament. Lens dislocation can produce
glaucoma.
Skeletal Changes
The limbs are excessively long and thin (dolichostenomelia),
with the arm span exceeding the patient’s height. The mea-
surement from the head to the symphysis pubis is less than
that from the symphysis pubis to the heel. Arachnodactyly
may be present but is not as severe or as frequent as in
Marfan syndrome. There may be fixed flexion deformity of
the digits and flexion deformity of the elbow, with limited
supination. The feet and toes are long. Severe pes planoval-
gus is common, and some patients have cavus feet. Most
patients have scoliosis—usually a left lumbar, right thoracic
curve, with the lumbar curve greater than the thoracic one.
Osteoporosis, especially in the spine, is often a striking
feature. The vertebral bodies frequently exhibit biconcave
end-plates in addition to the generalized osteopenia.
Widening of the metaphyses and enlargement of the
epiphyses of the long bones, particularly at the knees, are
important features of homocystinuria.5 These are usually
not present in Marfan syndrome. Associated anomalies are
pectus carinatum or excavatum, high-arched palate, facial
appearance characterized by malar flush, and light-colored
hair.
Diagnosis
Several studies indicate that the diagnosis of homocystin-
uria is frequently delayed, despite the presence of typical
Table 41-1  Distinguishing Between Homocystinuria and Marfan Syndrome
Parameter Homocystinuria
Inheritance Autosomal recessive
Cause Deficiency in enzyme cystathionine synthase
Neurologic features Mental retardation present in most but not all
Convulsions; schizophrenia-like state
Vascular changes Tendency to thrombosis of veins and arteries
High incidence of thromboembolism
Lens dislocation Present, usually downward; not present at birth
Skeletal changes Osteoporosis with platyspondyly and biconcave
vertebrae
Dolichostenomelia
Flaring of metaphysis with enlargement of
epiphysis at knee
Joint laxity; dislocation rare
Moderate arachnodactyly
Pectus excavatum, pectus carinatum
Scoliosis
Modified from Tachdjian MO: Pediatric orthopaedics, ed 2, Philadelphia, 1990, Saunders, p 889.
clinical features.10,32 The authors emphasize that unusual
myopia (high, abnormally progressive, or occurring at a very
young age), especially when combined with skeletal mani-
festations, should alert the attending physician to the pos-
sibility of homocystinuria.
Homocystinuria is apparently caused by a number of
potential genetic or biochemical abnormalities, as suggested
by the spectrum of clinical manifestations and the variable
response to pyridoxine. Thus confirmation of the diagnosis
with laboratory tests is not always simple.14,21 The measure-
ment of sulfur amino acid concentrations, especially total
homocysteine, in plasma or urine is a good screening tool.
In patients whose clinical features and laboratory results
suggest the diagnosis of homocystinuria, cystathionine syn-
thase assays can be done using fibroblasts cultured from skin
biopsy.17
Features distinguishing homocystinuria from Marfan syn-
drome are presented in Table 41-1.
Treatment
Patients diagnosed with homocystinuria should have a trial
of pyridoxine; approximately 50% of patients respond to
such treatment, with reversal of the biochemical abnor-
malities.1,7,25 This biochemical reversal may reduce the risk
of thromboembolic complications and prevent the progres-
sion of osteopenia or mental retardation, but the extent is
uncertain. Preservation of good vision is enhanced if the
diagnosis is made and treatment initiated within the first 6
weeks of life.38 In addition, Wilcken and Wilcken demon-
strated a significant reduction in thromboembolic events
(myocardial infarction and pulmonary edema) in a group of
patients treated with a combination of pyridoxine, folic
acid, and hydrocobalamin.42 About 50% of patients do not
respond to pyridoxine therapy, presumably because of indi-
vidual variations in the exact nature of the metabolic
disorder.41,43
Marfan Syndrome
Autosomal dominant
Defect in fibrillin-1
Absent
Dissecting aneurysm
Rupture of aorta
Prolapse of mitral valve
Present, usually upward; can be present at birth
Osteoporosis absent or minimal
Dolichostenomelia
Epiphysis and metaphysis normal
Joint laxity typical
Severe arachnodactyly
Pectus excavatum, pectus carinatum
Scoliosis

Progressive scoliosis in skeletally immature patients is
initially treated with a thoracolumbar orthosis. However,
this treatment often fails to prevent progression of the
deformity, and spinal fusion and instrumentation must be
considered. Vertebral body osteopenia and the risk of
thromboembolic complications must be taken into consid-
eration when advising and proceeding with surgery.
References
Homocystinuria
1. Barber GW, Spaeth GL: The successful treatment of homocystin-
uria with pyridoxine, J Pediatr 75:463, 1969.
2. Beals RK: Homocystinuria. A report of two cases and review of
the literature, J Bone Joint Surg Am 51:1564, 1969.
3. Boers GH, Polder TW, Cruysberg JR, et al: Homocystinuria versus
Marfan’s syndrome: the therapeutic relevance of the differential
diagnosis, Neth J Med 27:206, 1984.
4. Brenton DP: Skeletal abnormalities in homocystinuria, Postgrad
Med J 53:488, 1977.
5. Brenton DP, Dow CJ, James JI, et al: Homocystinuria and Marfan’s
syndrome. A comparison, J Bone Joint Surg Br 54:277, 1972.
6. Brill PW, Mitty HA, Gaull GE: Homocystinuria due to cystathio-
nine synthase deficiency: clinical-roentgenologic correlations, Am
J Roentgenol Radium Ther Nucl Med 121:45, 1974.
7. Carson NA, Carre IJ: Treatment of homocystinuria with pyridox-
ine. A preliminary study, Arch Dis Child 44:387, 1969.
8. Carson NA, Neill DW: Metabolic abnormalities detected in a
survey of mentally backward individuals in Northern Ireland, Arch
Dis Child 37:505, 1962.
9. Cerbo RM, Cabano R, Lombardi G, et al: From apneic spells to
the development of hypertensive hydrocephalus: a case report of
homocystinuria with early onset, J Child Neurol 25:368, 2010.
10. Cruysberg JR, Boers GH, Trijbels JM, et al: Delay in diagnosis of
homocystinuria: retrospective study of consecutive patients, BMJ
313:1037, 1996.
11. Cusworth DC, Dent CE: Homocystinuria, Br Med Bull 25:42,
1969.
12. Cusworth DC, Gattereau A: Inhibition of renal tubular reab-
sorption of homocystine by lysine and arginine, Lancet 2:916,
1968.
13. Dehnel JM, Francis MJ: Somatomedin (sulphation factor)-like
activity of homocystine, Clin Sci 43:903, 1972.
14. Drayer JI, Cleophas AJ, Trijbels JM, et al: Symptoms, diagnostic
pitfalls, and treatment of homocystinuria in seven adult patients,
Neth J Med 23:89, 1980.
15. Dunn HG, Perry TL, Dolman CL: Homocystinuria. A recently
discovered cause of mental defect and cerebrovascular thrombosis,
Neurology 16:407, 1966.
16. Field C, Carson N, Cusworth DC, et al: Homocystinuria, a new
disorder of metabolism (abstract). Presented at the Proceedings
of the 10th International Congress of Pediaetrics, Lisbon, 1962,
p 274.
17. Fowler B, Jakobs C: Post- and prenatal diagnostic methods for the
homocystinurias, Eur J Pediatr 157(Suppl 2):S88, 1998.
18. Gerritsen T, Waisman HA: Homocystinuria, an error in the metab-
olism of methionine, Pediatrics 33:413, 1964.
19. Gibson JB, Carson NA, Neill DW: Pathological findings in homo-
cystinuria, J Clin Pathol 17:427, 1964.
20. Grieco AJ: Homocystinuria: pathogenetic mechanisms, Am J Med
Sci 273:120, 1977.
21. Hagberg B, Hambraeus L: Some aspects of the diagnosis and treat-
ment of homocystinuria, Dev Med Child Neurol 10:479, 1968.
22. Harker LA, Slichter SJ, Scott CR, et al: Homocystinemia. Vascular
injury and arterial thrombosis, N Engl J Med 291:537, 1974.
23. Kang AH, Trelstad RL: A collagen defect in homocystinuria, J Clin
Invest 52:2571, 1973.
CHAPTER 41  Orthopaedic-Related Syndromes e489
24. Kennedy C, Shih VE, Rowland LP: Homocystinuria: a report in
two siblings, Pediatrics 36:736, 1965.
25. Komrower GM, Lambert AM, Cusworth DC, et al: Dietary treat-
ment of homocystinuria, Arch Dis Child 41:666, 1966.
26. Kraus JP: Komrower Lecture. Molecular basis of phenotype
expression in homocystinuria, J Inherit Metab Dis 17:383, 1994.
27. Kurczynski TW, Muir WA, Fleisher LD, et al: Maternal homocys-
tinuria: studies of an untreated mother and fetus, Arch Dis Child
55:721, 1980.
28. MacCarthy JM, Carey MC: Bone changes in homocystinuria, Clin
Radiol 19:128, 1968.
29. McKusick V: Homocystinuria. In McKusick V, editor: Heritable
disorders of connective tissue, St. Louis, 1972, Mosby, p 224.
30. Morreels CL Jr, Fletcher BD, Weilbaecher RG, et al: The
roentgenographic features of homocystinuria, Radiology 90:1150,
1968.
31. Mudd S, Levy H, Skovby F: Disorders of transsulfuration. In
Scriver C, Beaudet A, Sly W, et al, editors: The metabolic and
molecular bases of inherited disease, vol 1, New York, 1982,
McGraw-Hill, p 1279.
32. Naughten ER, Yap S, Mayne PD: Newborn screening for homo-
cystinuria: Irish and world experience, Eur J Pediatr 157(Suppl
2):S84, 1998.
33. Sardharwalla IB, Fowler B, Robins AJ, et al: Detection of hetero-
zygotes for homocystinuria, Arch Dis Child 49:553, 1974.
34. Schedewie H, Willich E, Grobe H, et al: Skeletal fingings in homo-
cystinuria: a collaborative study, Pediatr Radiol 1:12, 1973.
35. Schimke RN, McKusick VA, Huang T, et al: Homocystinuria.
Studies of 20 families with 38 affected members, JAMA 193:711,
1965.
36. Smith R: Biochemical disorders of the skeleton, London, 1979,
Butterworth, p 210.
37. Spaeth GL, Barber GW: Prevalence of homocystinuria among the
mentally retarded: evaluation of a specific screening test, Pediatrics
40:586, 1967.
38. Taylor RH, Burke J, O’Keefe M, et al: Ophthalmic abnormalities
in homocystinuria: the value of screening, Eye 12:427, 1998.
39. Thomas PS, Carson NA: Homocystinuria. The evolution of skel-
etal changes in relation to treatment, Ann Radiol (Paris) 21:95,
1978.
40. Uhlemann ER, TenPas JH, Lucky AW, et al: Platelet survival and
morphology in homocystinuria due to cystathionine synthase defi-
ciency, N Engl J Med 295:1283, 1976.
41. Wilcken B, Turner B: Homocystinuria. Reduced folate levels during
pyridoxine treatment, Arch Dis Child 48:58, 1973.
42. Wilcken DE, Wilcken B: The natural history of vascular disease in
homocystinuria and the effects of treatment, J Inherit Metab Dis
20:295, 1997.
43. Wong PW, Justice P, Hruby M, et al: Folic acid nonresponsive
homocystinuria due to methylenetetrahydrofolate reductase defi-
ciency, Pediatrics 59:749, 1977.
44. Zavala C, Cobo A, Lisker R, et al: Frequency of homocystinuria
amongst the blind, Clin Genet 4:98, 1973.
Nail-Patella Syndrome (Hereditary
Onycho-osteodysplasia)
In 1820, Chatelain described a patient with congenital
anomalies of the nails, elbows, and patellae, the earliest
report of nail dystrophy associated with skeletal dysplasia.4
In 1897, Little quoted a description by Sedgwick of a family
in which 18 members from four generations had no thumb-
nails and no patellae, suggesting the hereditary nature of
this disorder.20 Involvement of the elbows was reported by
Wrede in 1909.32 A detailed study of this triad of anomalies
was made by Osterreicher in 1931.24
e490 SECTION VII  Other Orthopaedic Disorders
FIGURE 41-12  Anteroposterior pelvic radiograph of a 14-year-old
girl with nail-patella syndrome. Bilateral iliac horns are seen
protruding from the iliac wings.
In 1933, Turner observed flaring of the iliac crests and
prominence of the anterior superior iliac spines in some
affected patients.29 Fong, in 1946, during routine pyelogra-
phy, noted conical bony projections on the posterior ilia,
which he termed iliac horns; he did not, however, associate
them with any syndrome.11 A few years later, these iliac
horns were observed in association with knee, elbow, and
nail anomalies and reported by other authors.23,27 Thus iliac
horns were established as an important constituent of this
syndrome (Fig. 41-12).
Nail-patella syndrome is the popular name applied
to this triad of anomalies, but in 1957 Love and Beiler
proposed the term hereditary osteo-onychodysplasia.21
It is also referred to as Fong syndrome and hereditary
onycho-osteodysplasia.7
The incidence of nail-patella syndrome in the United
States is 4.5/1 million population.12 Wynne-Davies and
associates reported a probable prevalence of about 1/1
million population.34 In 1963, Duncan and Souter found
reports in the world literature of 44 families exhibiting the
syndrome.7 The entire series comprised more than 400
affected persons, but details were available on only 252
individuals.
Inheritance and Genetics
Onycho-osteodysplasia is transmitted as an autosomal dom-
inant trait.8 Despite this type of inheritance, there is a
marked degree of intrafamilial and interfamilial variation in
the clinical severity of the disease.9,26 The gene for nail-
patella syndrome is LMX1B, located on chromosome 9.6,30
Many different mutations in the gene have been described,
which lead to a loss of function of the protein. LMX1B is
a transcription factor involved in normal patterning of the
dorsoventral axis of the limbs and early morphogenesis of
the glomerular basement membrane.2
Clinical Features
Dystrophy is greatest in the thumbnails and becomes less
severe in the more ulnar digits (Fig. 41-13). The little finger
is rarely affected. Abnormalities of the toenails have been
FIGURE 41-13  Dystrophic nails in a 10-year-old girl with nail-
patella syndrome. The ulnar digits are less affected than the
thumb.
noted in some patients. The thumbnail may be absent, bifid,
or hemiatrophic; the ulnar side of the nail is usually the part
that is absent. The nails may be reduced in length and show
numerous longitudinal cracks. Nail deformity is present in
98% of cases.
Bony abnormalities of the digits have not been demon-
strated. The mesodermal tissues of the fingers appear to be
involved to some extent. The terminal pulp may extend
from the volar aspect onto the dorsal surface. The dorsal
skin creases over the distal interphalangeal joints may be
absent or poorly developed. There may also be laxity of the
ligaments of the metacarpophalangeal and interphalangeal
joints.
The patella is absent or hypoplastic (Fig. 41-14). The
hypoplastic patella may be ovoid, triangular, or irregular in
shape and may arise from several ossification centers (Fig.
41-15). It may be located more distally than in the normal
knee.
The presenting complaint may be knee pain or recurrent
lateral dislocation of the patella caused by hypoplasia of the
lateral femoral condyle.1 Some degree of genu valgum is
usually present. The medial femoral condyle is frequently
large and prominent, whereas the lateral femoral condyle is
underdeveloped. The medial tibial plateau may slip down-
ward and medially or may even be grooved. The medial
margin of the proximal tibial metaphysis tends to sweep
upward and medially in a characteristic arc. Valgus of the
foot and ball-and-socket ankle joint have been reported.10
The carrying angle of the elbow joint is increased, with
varying degrees of cubitus valgus. There is hypoplasia of the
lateral side of the elbow joint involving not only the capitel-
lum and lateral condyle but also the radial head. The radial
 CHAPTER 41  Orthopaedic-Related Syndromes e491

A B

C D
FIGURE 41-14  Anteroposterior (A) and lateral (B) radiographs of the knee of a boy aged 4 years 7 months with nail-patella syndrome.
Note the absence of the patella. Magnetic resonance imaging (lateral [C] and transverse [D] views) shows a lack of normal patellar
development.

head may articulate normally with the capitellum, or there
may be subluxation or dislocation posteriorly (Fig. 41-16).25
There may be a pointed exostosis of the lateral aspect of
the coronoid process. Range of motion of the elbow joints
is usually limited.
Radiographic Findings
Iliac horns17 and flaring of the iliac crests, with prominence
of the anterior superior iliac spines, are the two types of
pelvic abnormalities encountered. Iliac horns, one of the
most common features of onycho-osteodysplasia, are bilat-
eral, present in 80% of cases, and may be visible, palpable,
or impalpable, according to their size. The horns are located
at the origin of the gluteus medius and project posterolater-
ally.12 Secondary centers of ossification may occur at their
tips. They are present early in life. When outflaring of the
iliac crests and prominent anterior superior iliac spines is
combined with iliac horns, the appearance of the pelvis has
been likened to that of an elephant’s ear.
Associated Anomalies
Other anomalies that may be found in association with the
foregoing main lesions include clubfoot and other congenital
foot abnormalities,13,16 developmental dysplasia of the hip,
e492 SECTION VII  Other Orthopaedic Disorders

FIGURE 41-15  A, Clinical appearance of the lower extremities of a

10-year-old girl with nail-patella syndrome and patellofemoral instability.
A B, Computed tomography scan of the patellofemoral joint reveals hypoplasia
of the patella and a shallow femoral groove.

A B

C D
FIGURE 41-16  A, Bilateral radial head dislocations in a 15-year-old girl with nail-patella syndrome. B, The radial head is dislocated
posteriorly. C and D, The girl’s mother has significant limitation in both elbow flexion and extension.

scoliosis, glenoid and acromial dysplasia,36 and congenital
contracture of the little finger. Abnormal pigmentation of
the iris occurs in about 50% of cases. Plummer-Vinson syn-
drome (dysphagia, hypochromic anemia, and koilonychia)
has also been associated with nail-patella syndrome.
About 40% of individuals with nail-patella syndrome
have kidney disease. Most have accelerated age-related loss
of filtration function, which is usually asymptomatic. A
minority, about 5% to10% of people with nail-patella syn-
drome have more severe disease, with nephritic syndrome
in their youth, which progresses to end-stage kidney
failure.19 Later in life, usually during the third or fourth
decade, nephropathy and proteinuria develop, with subse-
quent renal failure.¶a
Nephropathy occurs in approximately 40% of affected
individuals,14 is more frequent in female patients, and may
be linked to the specific mutation location in the LMX1B
gene.3
Glaucoma is also seen with increased frequency in
patients with nail-patella syndrome.3,26 Because of the asso-
ciation with both renal failure and glaucoma, patients with
nail-patella syndrome should be screened for these serious
associated conditions.9
Treatment
There is no specific treatment for the disorder. The iliac
horns do not affect gait and should not be resected. Recur-
rent dislocation of the patella may occur; if this is disabling,
it is treated by proximal or distal realignment.22,35 In a series
reported by Guidera and associates, approximately 50% of
children with nail-patella syndrome underwent knee surgery
to treat instability.13 Foot deformities often require postero-
medial clubfoot releases.
References
Nail-Patella Syndrome (Hereditary Onycho-osteodysplasia)
1. Beguiristain JL, de Rada PD, Barriga A: Nail-patella syndrome:
long-term evolution, J Pediatr Orthop B 12:13, 2003.
2. Bongers EM, Gubler MC, Knoers NV: Nail-patella syndrome.
Overview on clinical and molecular findings, Pediatr Nephrol
17:703, 2002.
3. Bongers EM, Huysmans FT, Levtchenko E, et al: Genotype-
phenotype studies in nail-patella syndrome show that LMX1B
mutation location is involved in the risk of developing nephropathy,
Eur J Hum Genet 13:935, 2005.
4. Chatelain: Cited by: Roeckerath W, Fortschr Geb Rontgenstr
75:700, 1951.
5. Darlington D, Hawkins CF: Nail-patella syndrome with iliac horns
and hereditary nephropathy. Necropsy report and anatomical dis-
section, J Bone Joint Surg Br 49:164, 1967.
6. Dreyer SD, Zhou G, Baldini A, et al: Mutations in LMX1B cause
abnormal skeletal patterning and renal dysplasia in nail patella
syndrome, Nat Genet 19:47, 1998.
7. Duncan JG, Souter WA: Hereditary onycho-osteodysplasia: the
nail patella syndrome, J Bone Joint Surg Br 45:3242, 1963.
8. Duthie RB, Hecht F: The inheritance and development of the
nail-patella syndrome, J Bone Joint Surg Br 45:259, 1963.
9. Farley FA, Lichter PR, Downs CA, et al: An orthopaedic scoring
system for nail-patella syndrome and application to a kindred with
variable expressivity and glaucoma, J Pediatr Orthop 19:624, 1999.
¶a
References 5, 8, 14, 15, 18, 28, 31, 33.
CHAPTER 41  Orthopaedic-Related Syndromes e493
10. Fiedler BS, De Smet AA, Kling TFJ, et al: Foot deformity in
hereditary onycho-osteodysplasia, Can Assoc Radiol J 38:305,
1987.
11. Fong EE: Iliac horns (symmetrical bilateral central posterior iliac
processes), Radiology 47:517, 1946.
12. Goshen E, Schwartz A, Zilka LR, et al: Bilateral accessory
iliac horns: pathognomonic findings in nail-patella syndrome.
Scintigraphic evidence on bone scan, Clin Nucl Med 25:476,
2000.
13. Guidera KJ, Satterwhite Y, Ogden JA, et al: Nail patella syndrome:
a review of 44 orthopaedic patients, J Pediatr Orthop 11:737,
1991.
14. Hawkins CF, Smith OE: Renal dysplasia in a family with multiple
hereditary abnormalities including iliac horns, Lancet 1:803, 1950.
15. Hoger PH, Henschel MG: [Skeletal anomalies in nail-patella syn-
drome. Case report and overview.] Hautarzt 48:581, 1997.
16. Hogh J, Macnicol MF: Foot deformities associated with onycho-
osteodysplasia. A familial study and a review of associated features,
Int Orthop 9:135, 1985.
17. Karabulut N, Ariyurek M, Erol C, et al: Imaging of iliac horns in
nail-patella syndrome, J Comput Assist Tomogr 20:530, 1996.
18. Kozlovskaia NL, Tareeva IE, Popova VV, et al: [Kidney involvement
in hereditary osteo-onychodysplasia.] Ter Arkh 69:37, 1997.
19. Lemley KV: Kidney disease in nail-patella syndrome, Pediatr
Nephrol 24:2345, 2009.
20. Little EM: Congenital absence or delayed development of the
patella, Lancet 781, 1897.
21. Love WH, Beiler DD: Osteo-onychodysplasia, J Bone Joint Surg
Am 39:645, 1957.
22. Maruno K, Fujii K, Tanaka T, et al: Surgical management of con-
genital permanent dislocation of the patella in nail patella syn-
drome by Stanisavljevic procedure, J Orthop Sci 4:446, 1999.
23. Mino RA, Mino VH, Livingston RG: Osseous dysplasia and dys-
trophy of the nails: review of the literature and report of a case,
AJR Am J Roentgenol 60:633, 1948.
24. Osterreicher W: Family with anonychia, patella abnormalities and
dislocation of the radius: dominant characteristic over five genera-
tions, Z Menschl Vererb Konstitutionsl 465, 1931.
25. Reichenbach H, Hormann D, Theile H: Hereditary congenital
posterior dislocation of radial heads, Am J Med Genet 55:101,
1995.
26. Sweeney E, Fryer A, Mountford R, et al: Nail patella syndrome: a
review of the phenotype aided by developmental biology, J Med
Genet 40:153, 2003.
27. Thompson EA, Walker ET, Weens HS: Iliac horns: an osseous
manifestation of hereditary arthrodysplasia associated with dystro-
phy of the fingernails, Radiology 53:88, 1949.
28. Trinn C, Szoke B, Magyarlaki T, et al: [Nail-patella syndrome:
clinico-pathologic characteristics.] Orv Hetil 137:2253, 1996.
29. Turner JW: A hereditary arthrodysplasia associated with hereditary
dystrophy of thumb nails, JAMA 100:882, 1933.
30. Vollrath D, Jaramillo-Babb VL, Clough MV, et al: Loss-of-function
mutations in the LIM-homeodomain gene, LMX1B, in nail-patella
syndrome, Hum Mol Genet 7:1091, 1998.
31. Wildfeuer T, Albrecht G: [Nail-patella syndrome.] Hautarzt
47:860, 1996.
32. Wrede A: Kongenitale erbliche Luxation der Patells nach aussen,
Berl Klin Wochenschr 46:373, 1909.
33. Wright LA, Fred HL: Fatal renal disease associated with hereditary
osteo-onycho-dysplasia, South Med J 62:833, 1969.
34. Wynne-Davies R, Hall C, Apley AG: Atlas of skeletal dysplasias,
Edinburgh, 1985, Churchill-Livingstone.
35. Yakish SD, Fu FH: Long-term follow-up of the treatment of
a family with nail-patella syndrome, J Pediatr Orthop 3:360,
1983.
36. Yarali HN, Erden GA, Karaarslan F, et al: Clavicular horn: another
bony projection in nail-patella syndrome, Pediatr Radiol 25:549,
1995.
e494 SECTION VII  Other Orthopaedic Disorders
Larsen Syndrome
The magnitude of the task of managing patients with Larsen
syndrome has been recognized since the first description
of the disorder by Larsen and associates in 1950.18 The
syndrome is associated with so many orthopaedic deformi-
ties requiring treatment that its management has been
referred to as a herculean task.6 Dislocated joints, foot
deformities, and spinal deformities, including a potentially
lethal cervical kyphosis, may all need to be addressed in the
patient. Once an infant has been diagnosed, a thorough
investigation of the entire musculoskeletal system is neces-
sary to prioritize the management of these multiple defor-
mities. Even with optimal care of each deformity, the
functional outcome at maturity is guarded at best because
of the additive morbidity and possible complications of
managing bilateral dislocations of the hips and knees, inde-
pendent of any spinal deformities and foot surgeries that
might also be required.
Clinical Features
An initial evaluation is often requested soon after birth
because the orthopaedic manifestations are so dramatic.
The lower extremities most frequently exhibit bilateral
hyperextension deformities of the knees and fairly rigid
clubfeet. The knee deformity spans a spectrum from simple
congenital hyperextension deformity to complete (grade 3)
anterior dislocation of the tibia on the femur (Fig. 41-17),4
with the more severe dislocation being common. The hips
are often teratologically dislocated, with obvious foreshort-
ening of the thighs, but there is often remarkable mobility,
reflecting the characteristic generalized ligamentous laxity.
Other obvious skeletal manifestations include deformities
of the hands and elbows. The elbows frequently demon-
strate radiohumeral dislocation, with lateral prominence of
the radial heads, even in infants; there may be more exten-
sive dislocation, with total disruption of the radiocapitellar
and humeroulnar joints (Fig. 41-18).13 In the latter case, the
elbow is fixed by webbing in the antecubital space, with a
flexion contracture varying from 60 to 90 degrees.24 The
fingers are usually long and cylindric, with a series of short-
ened metacarpals and a spatulate thumb, where the termi-
nal phalanx is short and wide. Dislocation of the metacarpal
joint of the thumb can occur (see Fig. 41-18). The appear-
ance of the fingers is distinctly different from classic arthro-
gryposis, one of the other possible diagnoses to be considered
in this setting.
Facial dysmorphia aids in the immediate identification
of patients with Larsen syndrome, who characteristically
have a flattened nasal bridge, relatively widely spaced eyes,
and a prominent forehead (hypertelorism). Depression of
the nasal bridge is a universal characteristic that makes the
facial findings, in conjunction with the orthopaedic deformi-
ties, pathognomonic. Other nonorthopaedic involvement
includes elasticity of the thoracic cage, tracheomalacia, and
laryngomalacia. Respiratory failure and early respiratory
death have been reported as part of the syndrome.7,19,26,34
Acquired lesions of the mitral valve and aorta, similar to
those found in Marfan syndrome and other hyperelasticity
conditions, can further complicate the surgical management
of these children.15,36,37
Neurologic Evaluation
The neurologic evaluation of children with suspected Larsen
syndrome is critical. These patients are often described as
being hypotonic, a condition associated with hyperelasticity
syndromes and often implicated in the delayed achievement
of certain motor skills, such as the ability to walk. In infants
who are floppy or who are late in reaching milestones, it
may be a dangerous oversimplification to attribute such
delay to the syndrome per se or to the presence of multiple
joint dislocations or foot deformities; the possibility of cer-
vical cord compression must always be entertained in any
infant with hypotonicity. In patients with a known associ-
ated cervical kyphosis, the presence of cord compression
must be determined as early as possible to avoid chronic
myelopathy and neurologic morbidity. Should cervical cord
compression occur before complete myelinization, the
classic signs of spasticity or hyperactive deep tendon reflexes
indicating spinal cord compression are likely to be absent,
and the patient may exhibit a flaccid-type paresis (hypoto-
nicity). Although the tracheomalacia or bronchomalacia
observed in patients with Larsen syndrome30,33,34 can be
responsible for pulmonary compromise or death in infancy,
patients with cord compression and flaccid paresis also
suffer respiratory weakness and failure.11,26 Thus the impor-
tance of early neurologic evaluation and radiographic iden-
tification of cervical kyphosis cannot be overemphasized in
this patient population.11 Furthermore, a review of the lit-
erature strongly suggests that cervical kyphosis and cord
impingement are underdiagnosed. The cervical spine defor-
mities were not emphasized in the original description
of the syndrome18 and, with the exception of sporadic
reports,2,5,21,26,27 there has been little emphasis on this criti-
cal and potentially catastrophic lesion in patients with
Larsen syndrome.
Differential Diagnosis
Other entities that share features with Larsen syndrome
must be ruled out. These include other hyperelasticity syn-
dromes, such as Marfan and Ehlers-Danlos syndromes, and,
because of the contractures and extremity deformities,
arthrogryposis multiplex congenita and Beals syndrome
(congenital contractural arachnodactyly). The latter two are
usually differentiated by the fact that patients with Larsen
syndrome have a relatively normal muscle mass. Patients
with Beals syndrome or classic arthrogryposis may suffer
birth fractures as a result of rigid joints. Arthrogrypotic
patients lack normal flexion creases, and with the exception
of chest cage elasticity in patients with Larsen syndrome,
which may manifest in newborns as paradoxical motion on
inspiration and stridor, infants with Larsen syndrome are
generally more robust and actively moving. Patients with
hyperelasticity syndromes do not exhibit the multiple joint
dislocations typical of Larsen syndrome. A milder form of
Larsen syndrome lacking full-blown joint dislocations may
be confused with other hyperelasticity syndromes. In this
case, the dysmorphic facies of Larsen syndrome is the physi-
cal finding that settles the issue.
Larsen syndrome is classically inherited by an autosomal
dominant pattern,8,25 so a family history of the disorder
is an important factor in a patient with an otherwise
 CHAPTER 41  Orthopaedic-Related Syndromes e495

B C

D E F

FIGURE 41-17  Larsen syndrome. A, Newborn infant with obvious dislocated knees and clubfeet. B and C, Radiographs show grade 3
complete dislocation of the knee. D, Grade 3 dislocation of the knee in another patient. E and F, Incomplete reduction following cast
correction. Both knees subsequently underwent open reduction.
e496 SECTION VII  Other Orthopaedic Disorders

A B

FIGURE 41-18  Larsen syndrome. A, Right elbow in a newborn. Note the

complete radiocapitellar and humeroulnar dislocation. The thumb is also
dislocated at the metacarpophalangeal joint. B and C, Radiographic appearance
at age 6 years. Marked webbing and a 90-degree flexion contracture
accompany the untreated deformity. C

uncertain diagnosis. Evidence of mutations clustered in
the FLNB gene indicate that a molecular diagnostic
test may be available to assist in diagnosis and genetic
counseling.39
Radiographic Findings
An unusual radiographic finding—a separate, additional
ossification center for the calcaneus (Fig. 41-19)—may aid
in the diagnosis.6,35 The additional calcaneal apophysis is a
fairly consistent finding, and its absence casts doubt on a
diagnosis of classic Larsen syndrome. Extra carpal ossifica-
tion centers have also been observed (Fig. 41-20).6,31,35 The
presence of multiple joint dislocations (hip, knee, elbow),
with or without cervical kyphosis and spondylolysis, is an
additional confirmatory finding. In the spine, particularly at
cervical levels, spondylolysis at multiple levels is common,
which may represent unossified fibrocartilage or may be
associated with AP dissociation.14,23
Treatment
Because of the multiple deformities presenting simultane-
ously, the order of treatment should be determined as early
as possible. In infants with the full-blown syndrome, I rec-
ommend that treatment be prioritized as follows:
• Cervical kyphosis (or other threatened instability)
• Congenital dislocation of the knee
• Congenital dislocation of the hip
• Foot deformities requiring correction to reach planti-
grade position
 CHAPTER 41  Orthopaedic-Related Syndromes e497

FIGURE 41-19  Unusual radiographic findings that may

aid in the diagnosis of Larsen syndrome. A, Accessory
calcaneal apophysis (arrow) in a 2-year-old with
clubfeet. B, The accessory calcaneal apophysis has
B
fused to the main calcaneus at age 5 years.

Congenital dislocation of the elbow or radial head rarely

FIGURE 41-20  Extra carpal bone ossific nuclei in a 9-year-old with
Larsen syndrome.
requires treatment; scoliosis should be treated as described
in Chapter 12.
Cervical Kyphosis
To minimize morbidity from unsuspected or undiagnosed
cervical kyphosis, definitive management of this deformity
is the first priority. Although surgical stabilization of a
cervical kyphosis need not precede the treatment of
other deformities, the presence of cervical kyphosis must
be acknowledged, even if spinal cord impingement is not
present, and appropriate anesthetic precautions must be
taken during surgical procedures for other deformities to
avoid possibly catastrophic complications.2,18,26
Complex deformities such as C3-4 spondyloptosis with
atlantoaxial dislocation have been reported.17 Reports of AP
dissociation in the cervical spine have highlighted a new and
previously unreported complication of Larsen cervical dys-
plasia.14,23 In the presence of such dissociation between the
anterior vertebral column and posterior elements, simple
posterior fusion will fail to stabilize a kyphosis because
of the lack of bony continuity between the dysplastic
anterior vertebrae and posterior tether. Computed tomog-
raphy (CT) scanning is the best modality to identify this
dissociation, which should be suspected when multiple
wide cervical pars defects are noted on plain radiographs.23
The absence of pedicles clearly identifies the AP dissocia-
tion.14 Continued or worsening myelopathy is the hallmark
of such dissociation, even after circumferential fusion.
e498 SECTION VII  Other Orthopaedic Disorders

A B C
FIGURE 41-21  A, Left knee in maximum flexion after manipulation and casting in a 1-month-old boy with Larsen syndrome. B, Two
months later, following botulinum toxin (Botox) injection of the quadriceps and daily physical therapy. C, At age 11 months, the range of
motion is −10 to 110 degrees flexion.

Unexpectedly long anterior or posterior fusion is required

to stabilize these cases,14,23 essentially bypassing the levels
of dissociation and fusing to anatomically intact levels. In
an extreme case, this may require fusion extension from the
occiput to the upper thoracic levels.14
Congenital Dislocation of the Knee
The full spectrum of knee dislocation has been observed in
Larsen syndrome. It is occasionally amenable to nonopera-
tive treatment in infancy. If the knee is merely hyper­
extended (grade 1),4 it may be possible to use serial casting
and quadriceps stretching to achieve reduction by flexion.
More often than not, however, the quadriceps contracture
is more severe, and obliteration of the suprapatellar pouch
is complete.38 In this case, open reduction is necessary to
gain concentric femorotibial motion. I have also been suc-
cessful in obtaining closed reduction by inducing neuromus-
cular blockade of the quadriceps with botulinum toxin
(Botox; Fig. 41-21). An early attempt at closed reduction
by flexion and serial casting should be made in newborns,
and if the reduction is successful, it can be maintained by
splinting, which may include the use of a Pavlik harness to
maintain the knees in a flexed position (Fig. 41-22).29 In a
relatively mild case, knee hyperextension and hip disloca-
tion can be treated simultaneously by a Pavlik harness in the
neonatal period,9 provided that knee flexion greater than 40
to 45 degrees can be achieved. FIGURE 41-22  Simultaneous treatment of dislocated hips and
Open reduction of congenital dislocation of the knee is knees with a Pavlik harness in a patient with Larsen syndrome. The
probably the second most important operative procedure, patient had recently undergone posterior cervical fusion as well.
after cervical spine stabilization, if the patient is to have a
good functional outcome and ambulatory ability as an adult. extraarticular adhesions, preventing congruous knee flexion,
The best results are obtained when the knees are reduced and to mobilize the patellofemoral joint. However, the
by age 2 years.1,3,4,10,16,32 common end result of such lengthening is an incompetent
Traditional treatment involves extensive quadriceps quadriceps mechanism, producing extensor weakness and
mechanism lengthening to achieve flexion, as well as poor ambulatory function. If the knee is also unstable
an anterior arthrotomy to release intraarticular and because of ligamentous insufficiency (particularly cruciate),
 CHAPTER 41  Orthopaedic-Related Syndromes e499

B C
FIGURE 41-23  Larsen syndrome. A, Following bilateral open reduction of dislocated knees at age 14 months, both tibiae resubluxated
anteriorly because of incomplete release and decompression by femoral shortening. B, Two years later, frank dislocations were present in
spite of bracing. Quadriceps function was good, and further surgery was refused. C, By age 11 years, the unstable, dislocated knees
required full-time bracing, and function was poor.

or if extensive intraarticular release is required to achieve
reduction, the quadriceps weakness further reduces func-
tion, and severe valgus or frank subluxation may result,
making the patient brace-dependent. Marked instability at
the time of reduction, requiring temporary transarticular
fixation, portends the later development of valgus, sublux-
ation, and fixed flexion contracture caused by resubluxation
of the tibia. In such a clinical scenario, impaired knee func-
tion becomes the most significant disability (Fig. 41-23).
Experience with arthrotomy and primary femoral short-
ening to gain reduction and flexion of the knee has been
more encouraging (Fig. 41-24). The purpose of femoral
shortening is to lengthen the quadriceps mechanism without
extensive dissection and lengthening of the muscle-tendon
unit itself. With shortening of the femur, the extension
contracture is decompressed, and with a more limited
arthrotomy, intraarticular and extraarticular obstructions to
reduction of the knee can be released or excised without
damage to the suprapatellar quadriceps mechanism itself.
The patellofemoral joint can be realigned by extending the
arthrotomy proximally on the lateral side of the knee,
freeing the patella from its laterally dislocated position, and
realigning it in its appropriate intercondylar groove, again
aided by femoral shortening. The bony shortening is stabi-
lized by an appropriately sized small or mini-DCP plate
(dynamic compression plate). After bony healing, the knees
e500 SECTION VII  Other Orthopaedic Disorders

A B

D
FIGURE 41-24  Simultaneous reduction of congenital hip and knee dislocations in Larsen syndrome. A, Radiograph obtained after age
1 year showing bilateral teratologic hip dislocation. B, Unstable left knee in the same patient following closed reduction and casting.
C, Appearance after open reduction of the left hip and knee with diaphyseal shortening and anterior cruciate ligament reconstruction
using the iliotibial band. The right hip and knee had undergone similar treatment 3 months earlier. D, Hip reduction 2 years
postoperatively. E, Appearance 10 years postoperatively. Both knees were clinically stable and did not require orthoses. Despite identical
cruciate ligament reconstruction and posteromedial capsular imbrication in both knees, the right one suffered proximal tibial growth
arrest. Eventually, the alignment was corrected by opening wedge valgus osteotomy.

are splinted in a flexed position and gradually brought to
full extension as the child grows and ambulatory status
develops. Additional details of this technique are available
elsewhere.12
Late angular deformity, primarily valgus, is common fol-
lowing knee reduction surgery. If the valgus is associated
with marked anterolateral instability, ligamentous recon-
struction can be attempted. I have used the iliotibial band
transfer to substitute for the anterior cruciate ligament,
combined with imbrication of the posteromedial corner to
stabilize such knees, with definite short-term improve-
ment.12 Over the longer term, subluxation may recur
because of gradual stretching of the ligamentous replace-
ment. As always, any transphyseal cruciate ligament transfer
in an immature knee risks a growth disturbance of the
proximal tibial physis (see Fig. 41-24, E). However, the
stability obtained by the ligament and capsular reconstruc-
tion is invaluable to the ultimate function of the knee and
is well worth the risk of physeal growth disturbance, which
can be addressed later by appropriate lengthening and
angular correction. Bony realignment by varus osteotomy
may also be appropriate for valgus alignment. Although it
does not directly address the pathologic ligamentous and
articular structures, realignment may improve symptomatic
valgus by preventing further stretching of the medial and
posterior capsules.22
Congenital Dislocation of the Hip
Congenital dislocation of the hip may be amenable to closed
treatment in newborns. Although this deformity is often
considered teratologic in patients with Larsen syndrome,
closed reduction and stabilization have been performed suc-
cessfully. As noted, knee hyperextension and congenital
dislocation of the hip can be treated simultaneously in neo-
nates by means of a Pavlik harness. If hip stability is not
achieved with the harness, maintaining the knees in flexion
is still beneficial for subsequent formal closed or open
reduction of the hips, which are then immobilized in a spica
cast. Knee flexion is obviously helpful when applying an
appropriate spica cast.
If teratologic dislocation persists after closed treatment
in infancy, which should not be unexpected, an attempt at
anterior open reduction and capsulorrhaphy should be
planned. Hyperlaxity usually contributes to the hip instabil-
ity, necessitating capsulorrhaphy; this is best done through
a traditional anterior ilioinguinal approach. I have no experi-
ence with medial open reduction without capsulorrhaphy
in patients with Larsen syndrome.
Anterior open reduction and capsulorrhaphy of the hip
are best performed around 1 year of age. Simultaneous
reduction of both the hip and knee, aided by a single diaphy-
seal femoral shortening, has proven to be the most effica-
cious method of achieving joint reduction with a minimum
of surgical procedures. Because femoral shortening may be
required to achieve a stable hip reduction without risking
avascular necrosis, I perform a mid-diaphyseal femoral
shortening to aid in the simultaneous reduction of both
the hip and knee (see Fig. 41-24). With the knee flexed,
the quadriceps realigned, and the incision closed, the ace-
tabulum is cleared, capsulorrhaphy is performed, and the
hip wound is closed. The involved extremity is then immo-
bilized in a spica cast for an appropriate period. The
CHAPTER 41  Orthopaedic-Related Syndromes e501
contralateral extremity with one or both joints dislocated
can be approached in 2 to 3 months.
If a patient presents late with dislocated hips, or if open
reduction has failed, leaving the hips unreduced is a viable
option. Larsen and colleagues did not treat the dislocated
hips in some of their patients because of the excellent
motion and absence of hyperlordosis.18
Foot Deformities
Foot deformities in Larsen syndrome usually include equi­
novarus or equinovalgus. Foot deformities are usually
addressed after the knee and hip have been stabilized. As
with other congenital foot problems involving significant
equinus, waiting until the patient is ambulatory and fully
weight bearing is beneficial in terms of maintaining correc-
tion. Although operative treatment is frequently required
for equinovarus deformities, it is not unreasonable to
attempt closed correction with casting or other stretching
techniques while the hip and knee joints are undergoing
treatment. The equinus of Larsen syndrome tends to be
resistant, however, and Achilles tendon lengthening and
posterior release will likely be required to achieve a planti-
grade foot. Because of the overall ligamentous laxity, caution
is recommended when releasing other components of the
clubfoot, because hyperpronated valgus overcorrection is
common. An apparently rigid clubfoot in an infant may later
become pathologically flexible. Minimal release of the
equinus and hindfoot varus in a 1-year-old who has com-
pleted treatment for other joint dislocations may be all that
is required.
Equinovalgus deformities may not require treatment at
all or may require only Achilles tendon lengthening.20
Patients with Larsen syndrome also tend to develop serpen-
tine or Z-foot deformities, in which hindfoot valgus is com-
bined with forefoot adductus (Fig. 41-25). Because of the
ligamentous laxity, the feet of patients with Larsen syn-
drome frequently appear to have significant deformity in
the weight-bearing position but remain asymptomatic. Sur-
gical intervention is rarely required, and supportive shoes
or orthoses are usually sufficient. On occasion, however, it
may be necessary to correct the hyperpronated portion of
the deformity by hindfoot stabilization.
Congenital Dislocation of the Elbow
or Radial Head
Congenital dislocation of the elbow or radial head is a fairly
frequent finding in patients with Larsen syndrome but
rarely requires treatment.13,22 Patients with radial head dis-
location are treated like any other patients with this con-
genital deformity; excision of the radial head is performed
at maturity if the patient is symptomatic. Because the arms
remain functional, with an adequate range of motion of the
elbow, the skeletal anomaly is generally ignored. In the
more severe situation of humeroulnar dislocation, the
deformity appears to require treatment in that the elbows
are frequently in a flexed position, with webbing and sig-
nificant contracture (see Fig. 41-18).24 However, because of
the bizarre absence of a distal humerus in these patients,
treatment is generally declined because of the inability to
restore a normal articulation by open reduction. Proximal
radioulnar synostosis, although reported in two thirds of
the patients in Laville and associates’ series,20 is an
e502 SECTION VII  Other Orthopaedic Disorders
B D
FIGURE 41-25  Foot deformities in Larsen syndrome. A and B, Equinovalgus feet. The hindfoot valgus is exacerbated by the extreme
ligamentous laxity. Mild metatarsus varus may be present on the left in A. C, Anteroposterior radiographs show shear dislocation of the
talocalcaneal joints. D, Lateral radiographs show marked hindfoot valgus and accessory calcaneal apophyses. The patient was
asymptomatic.
uncommon elbow abnormality with little therapeutic
implications because of the lack of symptoms or functional
impairment.
Scoliosis
Scoliosis in patients with Larsen syndrome usually presents
as a juvenile-onset deformity and can be treated as such,
with one caveat—because of the plasticity of the thoracic
cage and laxity of the costochondral joints, bracing must be
prescribed with caution because the chest wall can be sig-
nificantly deformed by scoliosis pads. As in other patients
with hyperlaxity, there may be an absolute thoracic lordosis
that contraindicates bracing. Scoliosis has been reported in
25% to 70% of patients with Larsen syndrome,20,22 with
approximately half subsequently undergoing operative sta-
bilization. Because of the earlier onset of the deformity,
most patients with Larsen syndrome require anterior and
posterior fusion to eliminate the crankshaft phenomenon.
Growing rod instrumentation with periodic serial lengthen-
ings to maintain correction without fusion has also been
successful in Larsen scoliosis.28 In patients with sagittal
imbalance caused by cervical kyphosis, the lordosis of the
thoracic deformity as a result of the cervical kyphosis above
may be an incipient feature that induces the scoliosis to
progress (Fig. 41-26). As with any juvenile-onset deformity,
the condition can progress rapidly and dramatically, eventu-
ally producing thoracic insufficiency (see Chapter 12).
Treatment, whether by definitive fusion or a fusionless
method, is recommended as soon as the deformity exceeds
60 degrees.
Cervical spondylolisthesis or hyperlordosis may be
present in older children or adolescents. The deformity may
be clinically apparent, with a progressively protruding jaw,
or the child may present with neck pain (Fig. 41-27). Spon-
dylolisthesis at C6-7 or C7-T1 has been noted in younger
children, associated with the pars defects and incomplete
posterior elements of the cervical spine in Larsen syndrome
(see Chapter 13). The spondylolisthesis generally does not
progress and may be asymptomatic in adolescents; however,
late presentation of cervicothoracic spondylolisthesis with
symptoms may require fusion (see Fig. 41-27, B). Hyper-
lordosis per se does not require treatment unless there is
dural impingement from a posterior direction; this was
seen in one patient who grew into hyperlordosis after
having undergone fusion 11 years earlier for kyphosis (see
Chapter 11).
Summary
Patients with Larsen syndrome usually require treatment
for multiple orthopaedic deformities that must be identi-
fied, prioritized, and managed in a staged fashion. Optimal
outcome depends on the following (in order of importance):
stabilization of cervical kyphosis and prevention of chronic
myelopathy; stable reduction of congenital knee dislocations
with quadriceps muscle-sparing surgery (i.e., femoral short-
ening); reduction of congenital hip dislocations, with
maintenance of good range of motion and functional hip
musculature; and creation of plantigrade feet. Scoliosis
may have to be addressed in older children, but upper
extremity (i.e., elbow) deformities generally do not
require treatment. Mistaking syndromic hypotonicity for
the more sinister cervical myelopathy in infants and young
children should be avoidable now that the predilection
for cervical kyphosis in Larsen syndrome has been well
documented.

A B
D E
References
Larsen Syndrome
1. Babat LB, Ehrlich MG: A paradigm for the age-related treatment
of knee dislocations in Larsen’s syndrome, J Pediatr Orthop 20:396,
2000.
2. Bellon JM, Filipe G: Problemes rachidiens rencontres au cours
syndrome de Larsen: a propos de 3 cas, Rev Chir Orthop 73:57,
1987.
3. Bensahel H, Dal Monte A, Hjelmstedt A, et al: Congenital disloca-
tion of the knee, J Pediatr Orthop 9:174, 1989.
CHAPTER 41  Orthopaedic-Related Syndromes e503
C
FIGURE 41-26  Scoliosis in Larsen syndrome.
A, Forty-degree scoliosis in a patient age 4 years
6 months who had already undergone anterior
and posterior cervical fusion and lower extremity
reconstructions (see Fig. 41-24). B, Severe
thoracic lordosis in response to the residual
cervical kyphosis (arrow) was also noted. C, At
age 8 years, the deformity had progressed to
75 degrees. A Milwaukee brace had been used
intermittently. D and E, The patient underwent
anterior and posterior fusion with instrumentation.
One year postoperatively, the scoliosis was 30
degrees, and the thoracic lordosis had improved.
4. Curtis BH, Fisher RL: Congenital hyperextension with anterior
subluxation of the knee. Surgical treatment and long-term observa-
tions, J Bone Joint Surg Am 51:255, 1969.
5. Francis WR Jr, Noble DP: Treatment of cervical kyphosis in chil-
dren, Spine 13:883, 1988.
6. Goldberg MJ: Syndromes of orthopedic importance. In Morrissy
RT, Weinstein SL, editors: Lovell and Winter’s pediatric orthopae-
dics, Philadelphia, 1996, Lippincott-Raven, p 265.
7. Habermann ET, Sterling A, Dennis RI: Larsen’s syndrome: a heri-
table disorder, J Bone Joint Surg Am 58:558, 1976.
e504 SECTION VII  Other Orthopaedic Disorders
A B
FIGURE 41-27  Spondylolisthesis in Larsen syndrome. A, Radiograph of a 15-year-old boy with spondylolysis at C7-T1 (arrowhead). The
patient had been followed for potential instability at C1-2 when the hypoplastic ring of C1 and synostosis of C2-3 were observed at an
early age. No instability ever developed. The spondylolysis was asymptomatic. B, Radiograph of an 18-year-old man with progressive
throat protrusion and neck pain shows spondylolisthesis.
8. Harris R, Cullen CH: Autosomal dominant inheritance in Larsen’s
syndrome, Clin Genet 2:87, 1971.
9. Iwaya T, Sakaguchi R, Tsuyama N: The treatment of congenital
dislocation of the knee with the Pavlik harness, Int Orthop 7:25,
1983.
10. Johnson E, Audell R, Oppenheim WL: Congenital dislocation of
the knee, J Pediatr Orthop 7:194, 1987.
11. Johnston CE 2nd, Birch JG, Daniels JL: Cervical kyphosis in
patients who have Larsen syndrome, J Bone Joint Surg Am 78:538,
1996.
12. Johnston CEI: Congenital deformities of the knee. In Scott WN,
editor: Insall and Scott surgery of the knee, Philadelphia, 2006,
Churchill Livingstone, p 1191.
13. Joseph B, Varghese RA: Congenital distal humeral dysplasia: a case
report, Pediatr Radiol 33:7, 2003.
14. Katz DA, Hall JE, Emans JB: Cervical kyphosis associated with
anteroposterior dissociation and quadriparesis in Larsen’s syn-
drome, J Pediatr Orthop 25:429, 2005.
15. Kiel EA, Frias JL, Victorica BE: Cardiovascular manifestations in
the Larsen syndrome, Pediatrics 71:942, 1983.
16. Klingele KE, Stephanes S: Management of ACL elongation in the
surgical treatment of congenital knee dislocation, Orthopedics
35:e1094, 2012.
17. Roopesh Kumar VR, Madhquiri VS, Sasidharan GM, et al: Larsen
syndrome with C3-C4 spondyloptosis and atlantoaxial dislocation
in an adult, Spine (Phila PA 1976) 38:E43, 2013.
18. Larsen LJ, Schottstaedt ER, Bost FC: Multiple congenital disloca-
tions associated with characteristic facial abnormality, J Pediatr
37:574, 1950.
19. Latta RJ, Graham CB, Aase J, et al: Larsen’s syndrome: a skeletal
dysplasia with multiple joint dislocations and unusual facies,
J Pediatr 78:291, 1971.
20. Laville JM, Lakermance P, Limouzy F: Larsen’s syndrome: review
of the literature and analysis of thirty-eight cases, J Pediatr Orthop
14:63, 1994.
21. Lefort G, Mourad H, de Niscault G, et al: [Dislocation of the
superior cervical spine in the Larsen syndrome.] Chir Pediatr
24:211, 1983.
22. Lubicky JP, Herman J: Clinical review of patients with Larsen’s
syndrome. Personal communication, 2000.
23. Luk KD, Yip DK: Congenital anteroposterior spinal dissociation in
Larsen’s Syndrome: report on two operated cases with long-term
follow-up, Spine 27:E296, 2002.
24. Lutter LD: Larsen syndrome: clinical features and treatment—a
report of two cases, J Pediatr Orthop 10:270, 1990.
25. McKusick V: Heritable disorders of the connective tissue, St. Louis,
1972, Mosby.
26. Micheli LJ, Hall JE, Watts HG: Spinal instability in Larsen’s syn-
drome: report of three cases, J Bone Joint Surg Am 58:562, 1976.
27. Muzumdar AS, Lowry RB, Robinson CE: Quadriplegia in Larsen
syndrome, Birth Defects Orig Artic Ser 13:202, 1977.
28. Neighbor SK, Asher MA: Thoracolumbar kyphoscoliosis in Larsen’s
syndrome. A case report, Clin Orthop Relat Res 377:180, 2000.
29. Nogi J, MacEwen GD: Congenital dislocation of the knee,
J Pediatr Orthop 2:509, 1982.
30. O’Herlihy C, O’Brien N: Neonatal stridor with Larsen’s syndrome,
Isr J Med Sci 13:912, 1977.
31. Oki T, Terashima Y, Murachi S, et al: Clinical features and treat-
ment of joint dislocations in Larsen’s syndrome. Report of three
cases in one family, Clin Orthop Relat Res 119:206, 1976.
32. Ooishi T, Sugioka Y, Matsumoto S, et al: Congenital dislocation of
the knee. Its pathologic features and treatment, Clin Orthop Relat
Res 287:187, 1993.
33. Rock MJ, Green CG, Pauli RM, et al: Tracheomalacia and bron-
chomalacia associated with Larsen syndrome, Pediatr Pulmonol
5:55, 1988.
34. Ronningen H, Bjerkreim I: Larsen’s syndrome, Acta Orthop Scand
49:138, 1978.
35. Steel HH, Kohl EJ: Multiple congenital dislocations associated
with other skeletal anomalies (Larsen’s syndrome) in three sib-
lings, J Bone Joint Surg Am 54:75, 1972.
36. Strisciuglio P, Sebastio G, Andria G, et al: Severe cardiac anomalies
in sibs with Larsen syndrome, J Med Genet 20:422, 1983.
37. Swensson RE, Linnebur AC, Paster SB: Striking aortic root dilata-
tion in a patient with the Larsen syndrome, J Pediatr 86:914, 1975.
38. Uhthoff HK, Ogata S: Early intrauterine presence of congenital
dislocation of the knee, J Pediatr Orthop 14:254, 1994.
39. Zhang D, Herring JA, Swaney SS, et al: Mutations responsible for
Larsen syndrome cluster in the FLNB protein, J Med Genet
43:e24, 2006.

Down Syndrome (Trisomy 21)
Down syndrome is the most frequent and most readily
recognizable trisomy occurring in humans. It was reported
in 1866 by Down,16 who remarked that a large number of
congenital idiots are typical Mongols. As recently as the
1970s, patients with this syndrome were referred to as
mongoloid. It was not until 1959 that Lejeune and Turpin
identified an extra chromosome 21 as the cause of this
condition.22,33a All affected individuals have, in some form,
three copies of this chromosome. Most (almost 95%) have
three free-standing copies, or full trisomy 21. Approxi-
mately 4% of affected individuals have a translocation
involving chromosome 21. Most of these translocations
exist as fusions at the centromere between chromosomes
13, 14, 15, or 21 t(21q;21q). For children born to mothers
younger than 30 years, the incidence of translocation is
slightly higher (6% to 9% of affected children).22,31 Because
of this possibility, chromosome studies should be done on
every individual with Down syndrome. If a translocation is
identified, parental studies should be done to identify which
normal-appearing parent is the translocation carrier. This
individual can then be counseled about the higher risk of
bearing future chromosomally abnormal offspring. The
remaining 1% of patients with Down syndrome are mosaic,
with some normal cells.
Genetic studies have further localized the abnormal
regions on chromosome 21.11,13,59 Many of the features
attributable to Down syndrome are found in region D21S55,
or the Down syndrome chromosome region, located on
21q22.2 or 22.3. Further genetic research is expected to
provide greater insight into the abnormal regions of chromo-
some 21 responsible for the numerous abnormalities seen
in Down syndrome.
FIGURE 41-28  Clinical appearance of a 14-year-old boy with Down syndrome.
A A, Note the characteristic flat face, with slanted palpebral fissures. B, His hands
are short and broad, with clinodactyly in the little finger.
CHAPTER 41  Orthopaedic-Related Syndromes e505
More than 50% of trisomy 21 conceptions abort in
early pregnancy. Nevertheless, the overall incidence of
Down syndrome is 1 in 600 to 800 live births.24 The
incidence increases with increasing maternal age at the time
of delivery; it is 1 in 1500 at age 15 to 29 years, 1 in 800
at age 30 to 34 years, 1 in 270 at age 35 to 39 years, 1 in
100 at age 40 to 44 years, and 1 in 50 at age 45 years and
older.28
Prenatal screening for Down syndrome can be
useful.9,12,26,33,42,60 In the second trimester of a pregnancy
with a trisomy 21 fetus, the maternal serum alpha-
fetoprotein concentration is lower than normal, unconju-
gated estriol is decreased, human chorionic gonadotropin
level is increased, and serum inhibin A levels are elevated.
Ultrasonography can provide further information noninva-
sively. If the results of these tests indicate an increased risk
of Down syndrome, particularly in women older than 35
years, it is reasonable to consider amniocentesis and chro-
mosome analysis.
Clinical Features
The prominent clinical features in Down syndrome include
the following: hypotonia; a flat face with upward and slanted
palpebral fissures or epicanthic folds; a tendency to keep
the mouth open, with the tongue protruding; hyperlaxity
leading to hyperflexibility of joints; relatively small stature,
with an awkward gait; varying degrees of mental retarda-
tion; a high-arched palate; short broad hands with a simian
crease; and a hypoplastic middle phalanx of the fifth finger,
leading to the appearance of clinodactyly (Fig. 41-28).
Other less evident findings include speckled irides, intesti-
nal atresia, cardiac malformations, and radiographically
demonstrated dysplasia of the pelvis. Joint swelling and pain
e506 SECTION VII  Other Orthopaedic Disorders
meeting the criteria for juvenile idiopathic arthritis occur
rarely and require significant antiarthritic therapy.30
Over time, muscle tone tends to improve, but joint
hyperlaxity remains. Improvement in mental development
slows with increasing age, and the mean IQ of adults is 24.
The social performance of children with Down syndrome
usually extends beyond their mental age.
Physical growth is slow, and the development of second-
ary centers of ossification is often delayed. Thyroid dysfunc-
tion is common but is often not readily noticeable, so the
primary care physician should perform thyroid function
studies periodically.
The major cause of early mortality in patients with Down
syndrome is congenital heart disease. With ongoing improve-
ments in the surgical treatment of congenital heart defects,
survival has increased. Nevertheless, life expectancy remains
shorter for those with congenital heart defects than for
those without.
Treatment
Hypermobility of the Upper Cervical Spine
Atlantoaxial Hypermobility
Atlantoaxial (C1-2) hypermobility is the primary orthopae-
dic concern in individuals with Down syndrome. The term
hypermobility is used here instead of instability, which
implies pathologic intersegmental motion that jeopardizes
neurologic integrity. Hypermobility refers to the increased
excursion of the cervical spine in Down syndrome patients
compared with normal controls, but does not necessarily
connote a loss of structural integrity of the soft tissue
restraints that protect the spinal cord.41 The difference
between hypermobility and instability is important for clini-
cians to understand to avoid overtreatment.
In a study of 404 patients with Down syndrome, hyper-
mobility was present in 14.6% (13.1% were asymptomatic,
and 1.5% had neurologic symptoms).45 In other reports, the
incidence ranges from 9% to 31%.35,45,51,53,55 Matsunaga and
co-workers reported an incidence of 6.7% of instability with
myelopathy from a review of 102 children. They also noted
a component of stenosis with a reduced AP diameter of the
atlas and the cross-section of the canal at that level.37 The
diagnosis is confirmed with measurements taken from
lateral radiographs of the upper cervical spine obtained in
flexion, extension, and neutral positions (Fig. 41-29). The
atlanto-dens interval, which is measured in millimeters, is
the shortest distance between the posterior aspect of the
anterior arch of C1 and the adjacent anterior aspect of the
odontoid process of C2. If this interval is 5 mm or greater,
atlantoaxial hypermobility is considered to be present.46,47
This is usually best demonstrated on the lateral radiograph
obtained during flexion. CT can show additional skeletal
anomalies of the C1-2 region but is not necessary to screen
for hypermobility.44
The neurologic manifestations of symptomatic atlanto-
axial hypermobility may be difficult to identify. Subtle find-
ings include easy fatigability, difficulty walking, abnormal
gait, neck pain, limited neck mobility, torticollis or head tilt,
incoordination, and clumsiness. More definite findings
include sensory deficits, spasticity, hyperreflexia, clonus,
extensor plantar reflex, and other motor neuron and
posterior column signs and symptoms. These signs and
symptoms often remain stable for months or years; occa-
sionally, they progressively worsen. Trauma is rarely respon-
sible for the initial appearance or progression of these
symptoms. To date, no studies have been able to provide
guidelines for identifying asymptomatic patients at risk of
developing neurologic symptoms.
Atlantoaxial hypermobility is primarily caused by laxity
of the transverse ligament of C1 and joint capsules. This
localized laxity does not necessarily correlate with patients’
generalized ligamentous laxity.10 In addition, abnormal
development of the odontoid process of C2 (e.g., persistent
synchondrosis, os odontoideum, hypoplasia) may predis-
pose an individual to hypermobility.47 The reported preva-
lence of odontoid dysplasia approximates 7%, but this figure
may underestimate the actual frequency because most
screening studies involve only lateral radiographs of the
upper cervical spine.47,51 If AP radiographs and other types
of images were also obtained, it is likely that more skeletal
anomalies would be detected in the C1-2 region. Down
syndrome children with atlantoaxial hypermobility are
more likely to have spina bifida of C1 than are those without.
Orthopaedists and pediatricians are often asked to evalu-
ate children with Down syndrome to confirm their eligibil-
ity to participate in the Special Olympics.62 In 1983, the
Special Olympics organization introduced a requirement
that lateral neck radiographs be obtained in individuals with
Down syndrome before they were allowed to participate.
Those with radiographic evidence of C1-2 hypermobility
were excluded from certain activities thought to be associ-
ated with an increased risk of injury to the cervical spine.
In 1984, the American Academy of Pediatrics published a
position statement that supported this requirement.1
However, participation in sports by asymptomatic children
with atlantoaxial hypermobility has not proved to be a sig-
nificant risk factor for the development of neurologic symp-
toms.10 Based in part on this information, in 1995, the
American Academy of Pediatrics Committee on Sports
Medicine and Fitness retracted its support for routine radio-
graphic screening for the Special Olympics, noting that
there is insufficient evidence of the value of cervical spine
radiographs in predicting catastrophic neck injuries in chil-
dren with Down syndrome.2 The 2007 Special Olympics
website stated that radiographs of the cervical spine con-
tinue to be required for all athletes in sports requiring sig-
nificant cervical flexion before their participation. Therefore
orthopaedists and pediatricians will continue to be asked to
order these tests.
The arguments in favor of the continued screening of
patients with Down syndrome include the theoretic possi-
bility of preventing the rare, catastrophic, sports-related
spinal cord injury among individuals with asymptomatic
hypermobility. Another purpose is to identify the rare, pre-
viously unrecognized patient with symptomatic hypermo-
bility. Arguments against screening include the rarity of
symptomatic hypermobility, the inaccuracy of the screening
test, the fact that some patients with abnormal initial radio-
graphs have normal radiographs later on,40 and the absence
of evidence that a screening program is effective in prevent-
ing symptomatic disease. Screening is also expensive, which
may prevent some individuals from participating in the
Special Olympics.2
 CHAPTER 41  Orthopaedic-Related Syndromes e507

A B

FIGURE 41-29  Radiographic appearance of Down syndrome in an 11-year-old girl

who is neurologically normal. Lateral radiographs with the neck in neutral (A),
extension (B), and flexion (C). Flexion-extension radiographs of the cervical spine
demonstrate 4 to 5 mm of instability between C1 and C2. In addition, instability
C
between the occiput and C1 is present.

Occipitoatlantal Hypermobility negatively affects the reproducibility and accuracy of the

Since the early 1980s, there has been increased awareness
that hypermobility can also exist at the occipitoatlantal
joint.7,18,36,56,58 This finding was first reported by Hungerford
and colleagues, who described a case of combined atlanto-
axial instability with neurologic compromise.27
The radiographic diagnosis of hypermobility is much
more difficult to make at the occipitoatlantal joint than at
the C1-2 level. The reported incidence of occipitoatlantal
hypermobility in patients with Down syndrome ranges from
8.5%40 to 71%, reflecting the variety of techniques used to
measure hypermobility at the occiput-C1 level.31 Three
popular techniques for measuring this hypermobility are the
Powers ratio,43 Wiesel-Rothman technique,61 and basion-
axial interval (Fig. 41-30).23 The advantage of the Powers
ratio is that it is not influenced by radiographic magnifica-
tion; it is a ratio rather than a direct measurement. In addi-
tion, because the Powers ratio is not referenced off the axis
(C2), it is not affected by any accompanying atlantoaxial
hypermobility. Unfortunately, localization of the opisthion
(one of the radiographic landmarks used) is difficult, which
Powers ratio. The Wiesel-Rothman technique for establish-
ing abnormal motion of the occipitoatlantal joint appears to
be the most reproducible of the lateral radiographic mea-
surements.31 The basion-axial interval is not applicable to
children with Down syndrome because it does not account
for the multilevel hypermobility that is so common in this
population. Ultimately, in a neurologically symptomatic
patient, the clearest picture of instability and spinal cord
compression is obtained with magnetic resonance imaging
(MRI).
It is important to be aware that hypermobility can occur
simultaneously in the occipitoatlantal joint and atlantoaxial
joint.56 An increase in motion that can be seen radiographi-
cally between the occiput and C2 generally occurs only in
the presence of accompanying atlantoaxial hypermobility.58
Hypermobility can also occur in other regions of the cervical
spine (e.g., C2-3) and should always be sought during the
evaluation.8 Ossification of the posterior longitudinal liga-
ment has also been described in a patient with Down syn-
drome and myelopathy.57
e508 SECTION VII  Other Orthopaedic Disorders

D }

}
A D
O
C

A B

FIGURE 41-30  Methods for measuring occipitoatlantal instability. A, Powers ratio

measurement. On a lateral extension radiograph of the cervical spine, the distance between
the basion (B) and anterior aspect of the posterior ring of C1 (C) is divided by the distance
between the opisthion (O) and the posterior aspect of the anterior arch of C1 (A). The Powers
ratio (BC/OA) for this radiograph is 0.90. B, Wiesel-Rothman technique, using flexion (left)
and extension (right) radiographs of the cervical spine. A transverse line is drawn from the
anterior arch of C1 to the most posterior aspect of the posterior ring. A perpendicular to this
line is drawn along the posterior aspect of the anterior arch of the atlas. The closest distance
between this line and the basion is measured (D), and the difference between this distance in
flexion and extension represents the amount of instability. C, The basion-axial interval (BAI),
established by measuring the distance between a line drawn along the posterior aspect of the
body of C2 and the basion. (From Karol LA, Sheffield EG, Crawford K, et al: Reproducibility in
the measurement of atlanto-occipital instability in children with Down syndrome, Spine
C
21:2463, 1996.)

Upper Cervical Spine Hypermobility
Nonoperative treatment for upper cervical spine hypermo-
bility in Down syndrome is not effective in preventing neu-
rologic deterioration. Families should be counseled that
certain sports (e.g., gymnastics, diving, high jump) can lead
to excessive stress on the neck.
The indications for surgical stabilization are controver-
sial.17 In the past, some investigators recommended early
fusion whenever atlantoaxial hypermobility was identified,
with or without myelopathy, to prevent potential neurologic
catastrophe.4,14,32 However, it is now recognized that the
vast majority of asymptomatic patients with C1-2 hyper-
mobility will remain asymptomatic, and the need for pro-
phylactic surgical stabilization has not been substantiated.
Some authors suggest that hypermobility greater than
10 mm should be stabilized with a posterior C1-2 arthro­
desis, regardless of the presence or absence of symptoms.34
They cite the lack of secondary soft tissue restraints (incom-
petent transverse ligament, capsular structures, and alar
ligaments) as the reason to proceed surgically. Because of
the high risk of complications associated with attempts at
surgical stabilization, however, I recommend MRI evalua-
tion for the rare individual without neurologic symptoms or
signs whose instability exceeds 10 mm. If the spinal cord is
significantly impinged on when the neck is in the flexed
position, as demonstrated by the MRI scan, surgical stabili-
zation should be undertaken. For those without significant
impingement (e.g., open posterior ring of C1), close obser-
vation is warranted. Meticulous examination must be
carried out in this situation to identify the presence of
subtle neurologic findings. Others report that treatment
plans for these children should depend on the space avail-
able for the cord, rather than on absolute values of displace-
ment.56 Treatment guidelines based on radiographic findings
are presented in Box 41-2.41
The one absolute indication for stabilization between C1
and C2 (with posterior arthrodesis) is the occurrence of
neurologic symptoms. Preoperative evaluation with flexion-
extension radiographs and MRI should be performed to
determine the exact location or locations of instability, the
amount of cord impingement, and whether normal align-
ment can be reestablished between C1 and C2. Instability
may be seen alone or in combination at the occiput-C1
level, C1-2 level, or C2-3 region.
Several surgical techniques have been proposed. In situ
autogenous bone graft without internal fixation continues
to be effective, as reported in the literature.48 Stable fibrous
union is common with this method. However, because it
provides no inherent stability, postoperative halo-vest
immobilization is mandatory. In addition, if normal

Box 41-2  Radiograph-Based Treatment
Guidelines for Down Syndrome
ATLANTO-DENS INTERVAL
Less than 4.5 mm—allow full, unrestricted activity.
Greater than 4.5 mm but < 10 mm and neurologically
normal—limit high-risk activities.*
Greater than 4.5 mm with a neurologic deficit:
• Limit activities.
• Obtain neurologic consultation.
• Perform magnetic resonance imaging:
■ Normal study—observe.
■ Signal changes within cord—perform surgical
stabilization.
Greater than 9.9 mm—perform surgical fusion.
OCCIPITOATLANTAL MOBILITY
Normal—allow full unrestricted activity.
Greater than 2-mm motion and neurologically normal—limit
high-risk activities.*
Greater than 2-mm motion with a neurologic deficit:
• Limit activities.
• Obtain neurologic consultation.
• Perform magnetic resonance imaging:
■ Normal study—observe.
■ Signal changes within cord—perform surgical
stabilization.
SUBAXIAL CERVICAL SPINE DEGENERATIVE CHANGES
Neurologically normal—observe.
Pain with no neurologic deficit—provide symptomatic
treatment.
Neurologic deficit:
• Obtain neurologic consultation.
• Perform electromyography and nerve conduction velocity
studies.
• Perform magnetic resonance imaging.
• Perform disk excision and fusion.
From Pizzutillo PD, Herman MJ: Cervical spine issues in Down
syndrome, J Pediatr Orthop 25:2253, 2005.
*Boxing, diving, football, gymnastics, ice hockey, rugby, soccer, and
wrestling.
alignment of C1 on C2 is reestablished at the time of
surgery, there is a greater risk of redisplacement in the
postoperative period with this method because of the lack
of internal fixation. Conversely, this technique is preferred
if a fixed subluxation of C1 on C2 is recognized preopera-
tively. If preoperative traction has been unsuccessful in
improving C1-2 alignment, no attempt to achieve a surgical
reduction should be made; rather, the subluxated C1-2
articulation should be fused in situ. In this case, passage of
sublaminar wire underneath an intact ring at C1 carries too
much neurologic risk because of the lack of available space.
Once in situ fusion has been achieved in a patient with fixed
C1-2 subluxation, potential neurologic compromise may
necessitate future resection of the dens.
The most common surgical technique uses sublaminar
wires for internal fixation. This method requires that normal
C1-2 alignment be restored, thus providing adequate space
for the spinal cord before the wires are passed. Autogenous
bone graft is used, and a halo vest is required postopera-
tively. The use of wires increases the likelihood, but does
not guarantee, that normal C1-2 alignment achieved at the
time of surgery will be maintained (Fig. 41-31). It also
CHAPTER 41  Orthopaedic-Related Syndromes e509
shortens the duration of external immobilization. Facet
screws placed between C1 and C2 provide greater stabiliza-
tion than sublaminar wiring,39 and this technique should
be considered if normal C1-2 alignment is obtained
intraoperatively.
Additional methods have been reported for arthrodesis
between the occiput and upper cervical spine. In one
method, a contoured autogenous iliac crest bone graft is
secured with wires between the occiput and C2 (sometimes
C3).15 A halo-vest device is used postoperatively. Another
method uses a Luque loop rod and wires to avoid rigid
postoperative external immobilization.24 Both these methods
have the advantage of allowing the decompression of spinal
cord impingement at C1 by removing its posterior ring.
The literature reports a high rate of complications (73%
to 100%) following attempts at upper cervical spine arthro­
desis in patients with Down syndrome.17,50 Major complica-
tions include nonunion, loss of reduction of C1 on C2, even
in the presence of sublaminar wire fixation, late subaxial
instability, infection, progressive neurologic deterioration,
resorption of autogenous bone graft, and death in the post-
operative period. The fact that sublaminar wiring of the
atlas may not protect against the potential loss of reduction
of C1 on C2 emphasizes the need for postoperative halo-
vest immobilization.
It bears repeating that although upper cervical spine
instability in patients with Down syndrome can be progres-
sive and may have serious consequences, there is no way
to predict which asymptomatic patients will progress or
develop symptoms. Minor trauma rarely precipitates neu-
rologic deterioration in previously asymptomatic patients.17
Therefore attempts at fusion in those with asymptomatic
atlantoaxial or occipitoatlantal hypermobility should be
approached with great caution. In myelopathic patients
with documented weakness or functional decline, surgical
stabilization should be attempted after preoperative radio-
graphic and MRI evaluation.
Hip Disorders
Radiographs of the hip joint in patients with Down syn-
drome often demonstrate a deep acetabulum, horizontal
acetabular roof, deep-seated femoral head, normal femoral
neck–shaft angle, and moderately increased femoral ante-
version. This orientation would be expected to create an
intrinsically stable joint, yet hip dysplasia or dislocation
occurs in almost 5% of children with Down syndrome and
is the most common hip disorder seen in this population.5
The dislocations are not congenital but occur between the
ages of 2 and 10 years. They can progressively evolve into
a chronic dysplasia or fixed dislocation (Fig. 41-32).3,5,19,21,52
The cause of these recurrent, usually painless disloca-
tions is related to joint hypermobility and ligamentous
laxity. The hip capsule is thin, attenuated, and poorly devel-
oped. Increased femoral neck anteversion and an increase
in the neck–shaft angle may be noted radiographically. One
study using three-dimensional CT reconstruction found the
posterior acetabular wall to be deficient.63
The goal of treatment is to create a stable, normal hip
joint that lasts the patient’s lifetime, but achieving this can
be difficult. Nonoperative methods include closed reduc-
tion and immobilization in a hip spica cast, followed by
the use of an abduction brace. Although nonoperative
e510 SECTION VII  Other Orthopaedic Disorders

A B C

D E F
FIGURE 41-31  Treatment of upper cervical spine instability in Down syndrome. A, The patient in Figure 41-30 was treated by posterior
fusion (with wire fixation) between the occiput and C2, with external immobilization provided by a soft collar only. B and C, Six months
later, the wires had broken, and motion was evident at C1-2. D, The wires were removed, and in situ fusion between the occiput and C2
was repeated. External immobilization with a halo vest was used postoperatively. E and F, Three years later, the occiput-C1 fusion was
solid. Spontaneous fusion between C2 and C3 had also occurred. Nonunion between C1 and C2 persisted but was accepted, with only a
3-mm difference in the atlanto-dens interval evident between flexion and extension.

treatment is thought to be of minimal benefit in children
with joint laxity,5,19 a report on two patients with Down
syndrome noted a lasting benefit.21 Cast immobilization is
used for 2 to 3 months, after which the child wears an
ambulatory abduction orthosis full time for 4 months and
then only at night for an additional 2 to 4 months. This
extensive amount of abduction is probably critical to the
success of nonoperative management.
Operative treatment should be undertaken if conserva-
tive cast or brace management fails to remedy the recurrent
dislocations. If the acetabulum is normal and sufficient,
capsular plication combined with a varus derotation femoral
osteotomy may provide a reduced and stable hip.5 If the
acetabulum is insufficient and dysplastic, a Dega osteotomy
or modified Pemberton osteotomy combined with capsular
plication and a varus derotation osteotomy may be effec-
tive.3,19,52 Recently, more complete coverage of the hip has
been achieved using the Ganz periacetabular osteotomy.
Sankar and co-workers showed superior results for children
treated in this way compared with those treated with varus
osteotomy and Dega or shelf acetabuloplasty.49 Despite
meticulous attention to surgical detail, complications have
been reported in as many as 50% of cases.5 The most promi-
nent complications include redislocation and infection.20
The risk of wound infection is always increased in those
with Down syndrome.
Other hip disorders that occur in these children include
a slipped capital femoral epiphysis and avascular necro-
sis.6,54 Unlike unaffected children, patients with Down
syndrome often ambulate almost pain-free on hips that
show severe deterioration radiographically (Fig. 41-33). If
slipped capital femoral epiphysis is diagnosed, it is impera-
tive to evaluate for thyroid dysfunction because of its fre-
quent association.
When all hip disorders are considered in the pediatric
Down syndrome population, the incidence of some form of
hip abnormality is 7.9%.52 In the adult Down syndrome
population, hip abnormalities occur with even greater fre-
quency.25 A normal hip at maturity does not preclude later
subluxation or dislocation, and there seems to be no safe
age at which hip stability can be guaranteed. As hips pro­
gress from mild to severe subluxation or dislocation in
adulthood, deterioration in walking ability leads to increased
difficulty participating in community activities.

A B
C D
FIGURE 41-32  A and B, Anteroposterior and lateral radiographs of the pelvis in a 5-year-old child with Down syndrome. C, The right
hip was dislocatable with little effort and did not cause pain. Surgical stabilization of the hip was recommended, but the family refused.
D, Ten years later, acetabular dysplasia of the right hip was evident radiographically. The patient remained asymptomatic, and the family
decided against any orthopaedic intervention.
Patellofemoral Disorders
Instability of the patella can be debilitating.14,62 The knee
may give way, leading to frequent episodes of falling. Quad-
riceps strengthening exercises and patellar stabilizing braces
may be of benefit to some individuals. If nonoperative
treatment is unsuccessful, operative intervention includes
the Galeazzi-Dewar realignment. A shallow trochlear
groove in the femur, combined with tissue laxity, can make
patellar stabilization difficult to achieve. Joo and colleagues
reported no recurrences after a four-in-one procedure,
including lateral release, tube realignment of the patella,
semitendinosus tenodesis, and lateral transfer of the patella
tendon.29
Foot Disorders
Despite the generalized ligamentous laxity in children with
Down syndrome, congenital clubfoot deformities do occur,
and a significant percentage of these are resistant to nonop-
erative treatment.38 Flatfoot deformities are common, but
treatment is usually unnecessary because of the lack of
symptoms. Customized arch supports may provide relief to
those with discomfort. Rarely should surgery be undertaken
to alter this condition. Along with flatfoot, hallux valgus
occurs widely in patients with Down syndrome. Changes in
CHAPTER 41  Orthopaedic-Related Syndromes e511
shoe wear usually accommodate the abnormalities. On
occasion, bunionectomies provide relief in adults.
References
Down Syndrome (Trisomy 21)
1. American Academy of Pediatrics Committee on Sports Medicine:
Atlanto-axial instability in Down’s syndrome, Pediatrics 74:152,
1984.
2. American Academy of Pediatrics Committee on Sports Medicine
and Fitness: Atlantoaxial instability in Down syndrome: subject
review, Pediatrics 96:151, 1995.
3. Aprin H, Zink WP, Hall JE: Management of dislocation of the hip
in Down syndrome, J Pediatr Orthop 5:428, 1985.
4. Aung MH: Atlanto-axial dislocation in Down’s syndrome. Report
of a case with spinal cord compression and review of the literature,
Bull Los Angeles Neurol Soc 38:197, 1973.
5. Bennet GC, Rang M, Roye DP, et al: Dislocation of the hip in
trisomy 21, J Bone Joint Surg Br 64:289, 1982.
6. Berghof R, Carstens C: [Hip joint problems in patients with
Down’s syndrome.] Z Orthop Ihre Grenzgeb 130:136, 1992.
7. Brooke DC, Burkus JK, Benson DR: Asymptomatic occipito-
atlantal instability in Down syndrome (trisomy 21). Report of two
cases in children, J Bone Joint Surg Am 69:293, 1987.
8. Citow JS, Munshi I, Chang-Stroman T, et al: C2/3 instability in a
child with Down’s syndrome: case report and discussion, Pediatr
Neurosurg 28:143, 1998.
e512 SECTION VII  Other Orthopaedic Disorders

B C D

E F
FIGURE 41-33  This 14-year-old boy had moderate right hip discomfort but remained ambulatory. A, Anteroposterior pelvic radiograph
demonstrates a slipped capital femoral epiphysis of the right hip. B, At the time of surgery, the femoral head was unstable, demonstrating
motion. It was stabilized with two screws. C, Five months later, the patient had a limp but no pain. The radiograph showed evidence of
avascular necrosis of the femoral head and screw penetration into the joint. D and E, Because the physis remained open, the two screws
were removed and replaced with one screw. Further collapse occurred, and the screw was removed 6 months later. After 2 years, the
patient remained pain-free but had a pronounced limp. F, The radiograph shows that the joint space was maintained, despite an irregular
femoral head.

9. Copel JA, Bahado-Singh RO: Prenatal screening for Down’s
syndrome—a search for the family’s values, N Engl J Med 341:521,
1999.
10. Cremers MJ, Beijer HJ: No relation between general laxity and
atlantoaxial instability in children with Down syndrome, J Pediatr
Orthop 13:318, 1993.
11. Dahmane N, Ghezala GA, Gosset P, et al: Transcriptional map of
the 2.5-Mb CBR-ERG region of chromosome 21 involved in Down
syndrome, Genomics 48:12, 1998.
12. Dalgliesh GL, Aitken DA, Lyall F, et al: Placental and maternal
serum inhibin-A and activin-A levels in Down’s syndrome pregnan-
cies, Placenta 22:227, 2001.

13. Delabar JM, Theophile D, Rahmani Z, et al: Molecular mapping
of twenty-four features of Down syndrome on chromosome 21,
Eur J Hum Genet 1:114, 1993.
14. Diamond LS, Lynne D, Sigman B: Orthopedic disorders in patients
with Down’s syndrome, Orthop Clin North Am 12:57, 1981.
15. Dormans JP, Drummond DS, Sutton LN, et al: Occipitocervical
arthrodesis in children. A new technique and analysis of results,
J Bone Joint Surg Am 77:1234, 1995.
16. Down J: Observations on an ethnic classification of idiots, London
Hospital, 1866.
17. Doyle JS, Lauerman WC, Wood KB, et al: Complications and
long-term outcome of upper cervical spine arthrodesis in patients
with Down syndrome, Spine (Phila Pa 1976) 21:1223, 1996.
18. Gabriel KR, Mason DE, Carango P: Occipito-atlantal translation
in Down’s syndrome, Spine (Phila Pa 1976) 15:997, 1990.
19. Gore DR: Recurrent dislocation of the hip in a child with Down’s
syndrome. A case report, J Bone Joint Surg Am 63:823, 1981.
20. Gore DR: Recurrent dislocation of the hip in a child with Down
syndrome: a 20-year follow-up, J South Orthop Assoc 8:67, 1999.
21. Greene WB: Closed treatment of hip dislocation in Down syn-
drome, J Pediatr Orthop 18:643, 1998.
22. Hall J: Chromosomal clinical abnormalities. In Berhman RE,
editor: Nelson’s textbook of pediatrics, Philadelphia, 1996, Saun-
ders, p 314.
23. Harris JH Jr, Carson GC, Wagner LK: Radiologic diagnosis of
traumatic occipitovertebral dissociation: 1. Normal occipitoverte-
bral relationships on lateral radiographs of supine subjects, AJR Am
J Roentgenol 162:881, 1994.
24. Higo M, Sakou T, Taketomi E, et al: Occipitocervical fusion by
Luque loop rod instrumentation in Down syndrome, J Pediatr
Orthop 15:539, 1995.
25. Hresko MT, McCarthy JC, Goldberg MJ: Hip disease in adults
with Down syndrome, J Bone Joint Surg Br 75:604, 1993.
26. Huang T, Alberman E, Wald N, et al: Triploidy identified through
second-trimester serum screening, Prenat Diagn 25:229, 2005.
27. Hungerford GD, Akkaraju V, Rawe SE, et al: Atlanto-occipital and
atlanto-axial dislocations with spinal cord compression in Down’s
syndrome: a case report and review of the literature, Br J Radiol
54:758, 1981.
28. Jones K: Chromosomal abnormality syndromes. In Jones K, editor:
Smith’s recognizable patterns of human malformation, Philadelphia,
1997, Saunders, p 8.
29. Joo SY, Park KB, Kim BR, et al: The ‘four-in-one’ procedure for
habitual dislocation of the patella in children: early results in
patients with severe generalised ligamentous laxity and aplasis of
the trochlear groove, J Bone Joint Surg Br 89:1645, 2007.
30. Juj H, Emery H: The arthropathy of Down syndrome: an under-
diagnosed and under-recognized condition, J Pediatr 154:234,
2009.
31. Karol LA, Sheffield EG, Crawford K, et al: Reproducibility in the
measurement of atlanto-occipital instability in children with Down
syndrome, Spine (Phila Pa 1976) 21:2463, 1996.
32. Kobori M, Takahashi H, Mikawa Y: Atlanto-axial dislocation in
Down’s syndrome. Report of two cases requiring surgical correc-
tion, Spine (Phila Pa 1976) 11:195, 1986.
33. Lambert-Messerlian GM, Canick JA: Clinical application of inhibin
A measurement: prenatal serum screening for Down syndrome,
Semin Reprod Med 22:235, 2004.
33a.  Lejeune J, Turpin R, Gautier M: Mongolism: a chromosomal
disease, Bull Acad Nat Med 193:256, 1959.
34. Loder RT, Hensinger RN: Developmental abnormalities of the
cervical spine. In Weinstein S, editor: The pediatric spine: princi-
ples and practice, New York, 1994, Raven Press, p 412.
35. Martel W, Tishler JM: Observations on the spine in mongoloidism,
Am J Roentgenol Radium Ther Nucl Med 97:630, 1966.
36. Matsuda Y, Sano N, Watanabe S, et al: Atlanto-occipital hypermo-
bility in subjects with Down’s syndrome, Spine (Phila Pa 1976)
20:2283, 1995.
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37. Matsunaga S, Imakiire T, Koga H, et al: Occult spinal canal stenosis
due to C-1 hypoplasia in children with Down syndrome, J Neuro-
surg 107(Suppl):457, 2007.
38. Miller PR, Kuo KN, Lubicky JP: Clubfoot deformity in Down’s
syndrome, Orthopedics 18:449, 1995.
39. Mitchell TC, Sadasivan KK, Ogden AL, et al: Biomechanical study
of atlantoaxial arthrodesis: transarticular screw fixation versus
modified Brooks posterior wiring, J Orthop Trauma 13:483, 1999.
40. Ohsawa T, Izawa T, Kuroki Y, et al: Follow-up study of atlanto-axial
instability in Down’s syndrome without separate odontoid process,
Spine (Phila Pa 1976) 14:1149, 1989.
41. Pizzutillo PD, Herman MJ: Cervical spine issues in Down syn-
drome, J Pediatr Orthop 25:253, 2005.
42. Platt LD, Greene N, Johnson A, et al: Sequential pathways of
testing after first-trimester screening for trisomy 21, Obstet
Gynecol 104:661, 2004.
43. Powers B, Miller MD, Kramer RS, et al: Traumatic anterior atlanto-
occipital dislocation, Neurosurgery 4:12, 1979.
44. Pueschel SM, Moon AC, Scola FH: Computerized tomography in
persons with Down syndrome and atlantoaxial instability, Spine
(Phila Pa 1976) 17:735, 1992.
45. Pueschel SM, Scola FH, Perry CD, et al: Atlanto-axial instability
in children with Down syndrome, Pediatr Radiol 10:129, 1981.
46. Pueschel SM, Scola FH, Pezzullo JC: A longitudinal study of
atlanto-dens relationships in asymptomatic individuals with Down
syndrome, Pediatrics 89:1194, 1992.
47. Pueschel SM, Scola FH, Tupper TB, et al: Skeletal anomalies
of the upper cervical spine in children with Down syndrome,
J Pediatr Orthop 10:607, 1990.
48. Rizzolo S, Lemos MJ, Mason DE: Posterior spinal arthrodesis for
atlantoaxial instability in Down syndrome, J Pediatr Orthop
15:543, 1995.
49. Sankar WN, Millis MB, Kim YJ: Instability of the hip in patients
with Down syndrome: improved results with complete redirec-
tional acetabular osteotomy, J Bone Joint Surg Am 93:1924, 2011.
50. Segal LS, Drummond DS, Zanotti RM, et al: Complications of
posterior arthrodesis of the cervical spine in patients who have
Down syndrome, J Bone Joint Surg Am 73:1547, 1991.
51. Semine AA, Ertel AN, Goldberg MJ, et al: Cervical-spine instabil-
ity in children with Down syndrome (trisomy 21), J Bone Joint
Surg Am 60:649, 1978.
52. Shaw ED, Beals RK: The hip joint in Down’s syndrome. A study
of its structure and associated disease, Clin Orthop Relat Res
278:101, 1992.
53. Spitzer R, Rabinowitch JY, Wybar KC: A study of the abnormalities
of the skull, teeth and lenses in mongolism, Can Med Assoc J
84:567, 1961.
54. Stack RE, Peterson LF: Slipped capital femoral epiphysis and
Down’s disease, Clin Orthop Relat Res 48:111, 1966.
55. Tishler J, Martel W: Dislocation of the atlas in mongolism: pre-
liminary report, Radiology 84:904, 1965.
56. Tredwell SJ, Newman DE, Lockitch G: Instability of the upper
cervical spine in Down syndrome, J Pediatr Orthop 10:602, 1990.
57. Tyrrell PN, Cassar-Pullicino VN, McCall IW: Ossification of the
posterior longitudinal ligament in Down’s syndrome, Eur Spine J
7:172, 1998.
58. Uno K, Kataoka O, Shiba R: Occipitoatlantal and occipitoaxial
hypermobility in Down syndrome, Spine (Phila Pa 1976) 21:1430,
1996.
59. Vidal-Taboada JM, Bergonon S, Scartezzini P, et al: High-resolution
physical map and identification of potentially regulatory sequences
of the human SH3BGR located in the Down syndrome chromo-
somal region, Biochem Biophys Res Commun 241:321, 1997.
60. Wenstrom KD, Owen J, Chu DC, et al: Elevated second-trimester
dimeric inhibin A levels identify Down syndrome pregnancies, Am
J Obstet Gynecol 177:992, 1997.
61. Wiesel SW, Rothman RH: Occipitoatlantal hypermobility, Spine
(Phila Pa 1976) 4:187, 1979.
e514 SECTION VII  Other Orthopaedic Disorders
FIGURE 41-34  Neurofibromatosis. Appearance of the “wart man,”
Johann Gottfried Rheinhard, as described and illustrated by Tilesius
in 1793. (From Morse RP: Neurofibromatosis type 1, Arch Neurol
56:365, 1999.)
62. Winell J, Burke SW: Sports participation of children with Down
syndrome, Orthop Clin North Am 34:439, 2003.
63. Woolf SK, Gross RH: Posterior acetabular wall deficiency in Down
syndrome, J Pediatr Orthop 23:708, 2003.
Neurofibromatosis
Neurofibromatosis is a hereditary, hamartomatous disorder
that affects numerous systems of the body, including the
central and peripheral nervous systems, skeleton, skin, and
deeper soft tissues. Since the late 1980s, a great deal of
information about neurofibromatosis has been gained from
molecular genetic studies.#a
Two distinct types of the disorder exist. Neurofibroma-
tosis type 1 (NF-1), also known as von Recklinghausen
disease or peripheral neurofibromatosis, is caused by a
defect in chromosome 17. Neurofibromatosis type 2 (NF-2),
previously known as bilateral acoustic neurofibromatosis
or central neurofibromatosis, results from a defect in the
long arm of chromosome 22. Children with orthopaedic
manifestations of the disease, such as spinal deformities
or congenital tibial pseudarthrosis, almost always have
NF-1. Children with NF-2 rarely require orthopaedic
intervention.
Historical Perspective
The names Tilesius, Virchow, and von Recklinghausen are
historically tied to neurofibromatosis.28 In 1793, Tilesius
provided one of the earliest descriptions of a patient thought
to have this disorder.41 Known as the “wart man,” this
patient had numerous growths on his skin, café au lait spots,
macrocephaly, and scoliosis (Fig. 41-34). Between 1847 and
1863, Virchow presented a series of reports describing
patients with neuromas and fibromas. In 1882, Virchow’s
student, Frederick von Recklinghausen, presented a report
titled “On Multiple Cutaneous Fibromas and Their Rela-
tionship to Multiple Neuromas,” in which he reviewed the
existing literature on neurofibromatosis and added two
cases.47 He linked the simultaneous existence of fibromas
and neuromas for the first time and coined the term
#a
References 2, 4, 14, 15, 38, 42, 44, 48.
neurofibroma. Subsequently, the eponymous von Reckling-
hausen disease was used to describe NF-1.
For a century, neurofibromatosis and the famous ele-
phant man, Joseph Cary Merrick, were linked.39 In the
1880s, Merrick was of interest to physicians in London
because of severe disfigurement of his head and extremities
and vertebral abnormalities, all of which were thought to
be caused by neurofibromatosis. Almost 100 years later,
with a better understanding of various syndromes, it was
determined that Merrick probably had Proteus syndrome
rather than neurofibromatosis.6
Neurofibromatosis Type 1
(von Recklinghausen Disease)
Neurofibromatosis type 1 is the most common single-gene
disorder affecting the human nervous system. Its incidence
is estimated at between 1 in 2500 to 4000, and it affects
at least 1 million people worldwide.7,9,10,19 There is no
gender or ethnic predilection. Although it is inherited in an
autosomal dominant fashion, approximately 50% of all
NF-1 cases are thought to result from new mutations. The
penetrance of this disorder is close to 100%, so that almost
every individual who carries the abnormal gene on chromo-
some 17 eventually shows some clinical feature of NF-1.
Mildly affected parents may have a severely affected child,
and the reverse is also true. Fewer than 10% of NF-1
patients require orthopaedic management, but for those
who do, several operative interventions to manage this
ongoing multisystem disease process can be expected.
Many systems of the body can be affected, and the
potential complications are numerous. These include cogni-
tive deficits, epilepsy, hydrocephalus, intracranial tumor,
optic glioma, short stature, scoliosis, hemihypertrophy,
pseudarthrosis of extremity bones, precocious puberty,
hypothalamic dysfunction, hypertension, and renal artery
stenosis.31
Genetics
Mapping of the NF-1 gene on chromosome 17 was reported
in 1987.2 This was followed 3 years later by reports docu-
menting the ability to clone the abnormal gene.4,6,48 Muta-
tions in the NF-1 gene have been identified in benign
neurofibromas and malignant tumors associated with NF-1,
leading to classification of the NF-1 gene as a tumor sup-
pressor gene. Neurofibromin, the protein encoded by the
NF-1 gene, is thought to have an important role in cell
growth and differentiation.31
In 1995, a protein truncation assay was developed to
confirm the diagnosis of NF-1 in patients with equivocal
physical signs and to allow prenatal diagnosis in families
with multiple affected generations.18 This assay enables the
investigator to detect approximately 60% of germline muta-
tions in the NF-1 gene. At this time, the sensitivity and
specificity of this test have not been confirmed.
Diagnosis
In 1987, the Consensus Development Conference on Neu-
rofibromatosis at the National Institutes of Heath (NIH)
reported on seven criteria found in patients with NF-1 (Box
41-3).30 If two or more of these criteria are identified in a
child, that individual can be considered to have NF-1.

Subsequent reports have reinforced the usefulness of these
criteria.16,29
Clinical Features
Café au Lait Spots
Café au lait spots are the most common clinical finding in
NF-1, present in more than 90% of affected patients. These
spots are areas of hyperpigmentation that usually have
rounded borders, as opposed to the irregular borders seen
in Albright disease. They become clinically obvious during
the first 2 years of life (Fig. 41-35). One criterion for the
diagnosis of NF-1 as established by the NIH Consensus
Box 41-3  National Institutes of Health
Criteria for Diagnosis of Neurofibromatosis
Type 1
• More than six café au lait spots, at least 15 mm in greatest
diameter in adults and 5 mm in children
• Two or more neurofibromas of any type or one plexiform
neurofibroma
• Freckling in the axillae or inguinal regions (Crowe’s sign)
• Optic glioma
• Two or more Lisch nodules (iris hamartomas)
• A distinctive bone lesion, such as sphenoid dysplasia or
thinning of the cortex of a long bone, with or without
pseudarthrosis
• A first-degree relative (parent, sibling, or offspring) with
neurofibromatosis type 1 by these criteria
National Institutes of Health Consensus Development: National
Institutes of Health Consensus Development Conference Statement:
neurofibromatosis. Bethesda, Md, USA, July 13-15, 1987,
Neurofibromatosis 1:172, 1988.
A B
FIGURE 41-35  Café au lait spots in neurofibromatosis. Spots with rounded borders are seen on a patient’s abdomen (A), back (B), and
thigh (C). They normally vary in size.
CHAPTER 41  Orthopaedic-Related Syndromes e515
Development Conference is the presence of more than six
of these spots; each must be at least 15 mm in greatest
diameter in adults and at least 5 mm in children. Café au
lait spots by themselves are insufficient to confirm the diag-
nosis of NF-1, however. If these spots are noted in an infant
in the absence of other findings, the family should be told
that this might be an early presentation of NF-1, but further
evaluation will be necessary over time. Additional criteria
that confirm the diagnosis usually become apparent by age
5 to 10 years.23
Axillary and Inguinal Freckling
Axillary and inguinal freckling is the second most common
clinical feature found in children with NF-1, with a fre-
quency approximating 80% by age 6 years.33 The freckling
consists of diffuse hyperpigmented spots 1 to 3 mm in
diameter (Fig. 41-36).
Cutaneous Neurofibromas
Cutaneous neurofibromas (termed fibroma molluscum by
Virchow ≈150 years ago) contain axons and Schwann cells.
They usually become evident in preadolescence and increase
in number thereafter. Clinically, these nodules are fre-
quently raised above the skin surface and may have a
slight bluish hue (Fig. 41-37). Cutaneous neurofibromas do
not transform into malignant tumors. This characteristic
distinguishes them from the more worrisome plexiform
neurofibromas, of which 1% to 4% are premalignant.31
Rarely are cutaneous neurofibromas associated with central
nervous system (CNS) lesions.
Lisch Nodules
Lisch nodules are dome-shaped elevations on the surface of
the iris and can be identified by an ophthalmologist using a
slit lamp. They are pathognomonic for NF-1. The incidence
C
e516 SECTION VII  Other Orthopaedic Disorders
FIGURE 41-36  Axillary freckling (consisting of numerous 1- to
3-mm hyperpigmented spots) is present in almost 80% of
individuals with neurofibromatosis by age 6 years.
FIGURE 41-37  Cutaneous neurofibromas (called fibroma
molluscum by Virchow) in neurofibromatosis. (From Crawford AH:
Neurofibromatosis in children, Acta Orthop Scand Suppl 57:218,
1986.)
of Lisch nodules increases markedly with age. The reported
frequency is between 22% and 81% by age 5 or 6 years. By
20 years of age, almost 100% of patients have evidence of
Lisch nodules.25
Plexiform Neurofibromas
Plexiform neurofibromas are very sensitive subcutaneous
neurofibromas described as ropy and feeling like a bag of
worms when palpated. They are found in 25% of patients
affected by NF-1 and may lead to significant disfigurement.
Cutaneous hyperpigmentation often overlies the plexiform
FIGURE 41-38  Large nevus overlying a plexiform neurofibroma.
(From Crawford AH: Neurofibromatosis in children, Acta Orthop
Scand Suppl 57:218, 1986.)
FIGURE 41-39  This tender, enlarging subcutaneous neurofibroma
in the forearm was benign on histologic examination.
neurofibroma, which may extend into deeper tissues such
as muscle, fascia, bone, and visceral regions (Fig. 41-38).37
Growth of these tumors varies greatly, and larger lesions
may lead to overgrowth of an extremity. Because malignant
transformation of these normally benign tumors occurs in
1% to 4% of cases, resection should be considered if they
become large, painful, or conspicuous or begin to expand
rapidly (Fig. 41-39). Other NF-1 tumors are more frequent
in patients with plexiform neurofibromas, and these patients
have a higher mortality rate.36 Early removal is easier and
may improve the cosmetic appearance.

Verrucous Hyperplasia
Verrucous hyperplasia represents a thickened overgrowth of
the skin, which has a velvety soft feel on palpation. Crevices
commonly form within the hyperplastic area, intermittently
resulting in infection requiring antibiotics. Elephantiasis
(pachydermatocele) represents excessive amounts of this
skin, which may be associated with overgrowth of underly-
ing dysplastic bone. Fortunately, these two features—
verrucous hyperplasia and elephantiasis—are uncommon.
Optic Glioma
This low-grade pilocytic astrocytoma is the most common
CNS tumor in NF-1, occurring in 15% to 20% of patients
studied with CT or MRI. Less than 50% become symptom-
atic. Those that do become symptomatic can cause
decreased visual acuity, visual field defects, proptosis, head-
ache, nausea, anorexia, and hypothalamic dysfunction.
Optic gliomas may involve the intraorbital portion of the
nerve, chiasm, intracerebral visual nerve pathways, or any
combination. It is unknown why some tumors progress
A B
FIGURE 41-40  Neurofibromatosis in a 16-year-old boy.
A, Thoracolumbar scoliosis is clinically evident, with the convexity to
the right. Posteroanterior (B) and lateral (C) radiographs of the
spine demonstrate the dystrophic nature of the curve, as evidenced
by erosions of the vertebral bodies (arrow). D, A 10- by 6-cm
neurofibroma was excised from the region of the concavity of the
curve.
CHAPTER 41  Orthopaedic-Related Syndromes e517
rapidly to cause symptoms but others remain asymptomatic
for many years.
Skeletal Abnormalities
Spinal Deformities
Scoliosis is the most common skeletal manifestation of
neurofibromatosis (Fig. 41-40).7,8,9,11,20,22 Typically, it affects
the thoracic spine, consists of a short, sharply angled curve,
and involves four to six vertebrae. The reported incidence
is between 10% and 60%.1,5,7,11,18,40 The higher reported
rates may be biased in that they were determined in
neurofibromatosis patients followed by musculoskeletal
specialists. One report, citing a 10% to 49% incidence of
scoliosis, appears to reflect the entire neurofibromatosis
population more accurately.1,43
The cause of spinal deformity in neurofibromatosis is
unknown. Proposed explanations include primary mesoder-
mal dysplasia, osteomalacia, erosion or infiltration of the
bone by localized neurofibromatosis tumors, and endocrine
disturbances.7
C
D
e518 SECTION VII  Other Orthopaedic Disorders
Neurofibromatosis scoliosis can be dystrophic or nondys-
trophic, depending on the accompanying abnormalities spe-
cific to the disorder.*b
Differentiating between the two is important because
the prognosis and management differ significantly. Dystro-
phic scoliosis is more common, has a greater tendency to
progress, and includes a subgroup of patients (those with
severe kyphoscoliosis) at risk for developing neurologic
deficits.40 Nondystrophic scoliosis more closely resembles
idiopathic scoliosis in both its curve patterns and behavior.
It has become clear that nondystrophic curves in younger
children can transform into the more worrisome dystrophic
type over several years.8
A more complete discussion of scoliosis that is associated
with neurofibromatosis and its treatment is provided in
Chapter 12.
Congenital Pseudarthrosis of the Tibia
Congenital pseudarthrosis of the tibia is frequently associ-
ated with neurofibromatosis (Fig. 41-41).17,46 The term is
somewhat inaccurate, however, because most clinically
apparent pseudarthroses of the tibia are not present at birth.
Instead, the orthopaedist encounters a tibial deformity
(anterolateral bowing) that, over time, usually fractures and
subsequently results in pseudarthrosis. More accurate terms
for this disease process might be congenital anterolateral
bowing or congenital tibial dysplasia.9
The relationship between this disorder and neurofibro-
matosis has been known since 1937. Up to 55% of cases of
anterolateral bowing and pseudarthrosis are associated with
NF-1. The tibial abnormality by itself may be evident very
early in life, when other findings that confirm the diagnosis
of NF-1 (e.g., café au lait spots, axillary freckling, cutaneous
neurofibromas) are not yet present. Over time, as other
associated findings evolve, the clinical appearance of NF-1
becomes clear. Congenital pseudarthrosis of the tibia and
its numerous methods of treatment are discussed in detail
in Chapter 22.
Hemihypertrophy
Overgrowth of an extremity is uncommon and usually
unilateral (Fig. 41-42). The hypertrophy may result from
neurosegmental overgrowth, which implies that a nerve dys-
plasia rather than a primary bone dysplasia is responsible.44
Autonomous hypertrophy of brachial or lumbosacral plexus
nerve roots can lead to enlargement of an extremity.
Although primarily neural in cause, bone and soft
tissues are affected. Changes in the soft tissue include
some or all of the following: hemangiomatosis, lymphangi-
omatosis, elephantiasis, and numerous beaded plexiform
neurofibromas.9 The long bone is elongated and may have
an irregular or thickened cortex. Macrodactyly is a common
associated finding, with disproportionate enlargement of
the toes or fingers.
Attempts to debulk the soft tissue lesion and surgically
diminish the bony overgrowth usually result in minimal, if
any, improvement. Early epiphysiodesis has a modest effect
on this generalized, unilateral bony enlargement. Attempts
to resect hypertrophic plexus nerve roots, perhaps in the
belief that they represent plexiform neurofibromas, may
result in severe motor or sensory deficits.
*bReferences 3, 7, 13, 22, 24, 34, 40, 50.
Malignant Degeneration of Neurofibromas
NF-1 predisposes individuals to an increased risk of malig-
nancy, primarily neurofibrosarcoma.21 This risk increases
with age, and higher incidences of malignant degeneration
are found in more severely affected patients. MRI findings
of enlarged nerves can distinguish malignant from benign
tumors with reasonable sensitivity and specificity (61% and
90%, respectively). Malignant tumors are larger and have
more peripheral enhancement, perilesional edema, and
intratumoral cyst formation.49 Malignant fibrous histiocy-
toma of bone associated with NF-1 in an adult was
reported.35 Plexiform neurofibromas that enlarge rapidly or
are associated with progressive pain should be carefully
evaluated for malignant degeneration. Other malignancies,
such as leukemia, rhabdomyosarcoma of the urogenital
tract, and Wilms tumor, have also been reported in patients
with NF-1.
Cognitive Deficits
Compared with the general population, those with NF-1
have lower IQs. Learning disabilities are common in chil-
dren with NF-1, with a reported frequency of 30% to
60%.32 There appears to be no specific profile of learning
disabilities, with language-based learning problems (reading
and spelling) being as common as nonverbal learning defi-
cits. Poor organizational skills and attention deficits tend to
affect performance in many areas.
Neurofibromatosis Type 2
Neurofibromatosis type 2 is also an autosomal dominant
disorder, although approximately 50% of new cases result
from spontaneous genetic mutation.26 It has almost full
penetrance, as measured by the development of NF-2–asso-
ciated tumors by age 18 years. Its incidence is 1 in 40,000
individuals, making it much less common than NF-1.12 No
gender or ethnic predilection has been demonstrated. The
musculoskeletal deformities encountered in NF-1 are gen-
erally absent in NF-2, and there is essentially no overlap
between the two types once a thorough examination has
been performed. The NIH Consensus Development Con-
ference criteria for the diagnosis of NF-2 are presented in
Box 41-4.16,29
The NF-2 gene, located on the long arm of chromosome
22, was identified in 1993. It encodes a novel member of the
protein 4.1 family of cytoskeletal-associated elements.38,42,44
Its protein product is merlin or schwannomin.
Vestibular schwannomas in the eighth cranial nerve occur
in almost every individual with NF-2 but are not seen in
NF-1.26 There is considerable variability in tumor growth
rates, but they tend to grow faster in patients who are
younger at the onset of signs or symptoms.28 In adulthood,
patients exhibit progressive deterioration in hearing, ambu-
lation difficulties, diminished vision, and chronic pain.
When NF-2 is found in children, neurologic symptoms such
as spinal cord compression or visual dysfunction are much
more common than the symptoms referable to vestibular
schwannomas.
Although schwannomas are the most common tumors
associated with NF-2, meningiomas occur in 50% of affected
individuals. Spinal cord tumors are seen in more than 80%,
but most remain asymptomatic.27
 CHAPTER 41  Orthopaedic-Related Syndromes e519

A B C D

E F G H
FIGURE 41-41  Congenital pseudarthrosis of the tibia in neurofibromatosis. A and B, Radiographs in a 1-year-old child showing severe
anterolateral bowing. C and D, By age 5 years, a distinct pseudarthrosis from a fracture was evident at the apex of the deformity. E and F,
After a failed attempt to achieve union of the fracture, a second surgical intervention with a Williams rod was undertaken at age 6 years
3 months. G and H, Six years later, the patient was asymptomatic and had a mild lower limb length discrepancy.
e520 SECTION VII  Other Orthopaedic Disorders
FIGURE 41-42  Hemihypertrophy of the right lower extremity in a
girl age 4 years 5 months with neurofibromatosis.
Box 41-4  National Institutes of Health
Criteria for Diagnosis of Neurofibromatosis
Type 2
The diagnostic criteria for neurofibromatosis type 2 are met if a
person has either of the following:
• Bilateral eighth nerve masses seen with appropriate imaging
techniques (i.e., computed tomography or magnetic
resonance imaging)
• A first-degree relative with neurofibromatosis type 2 and
either a unilateral eighth nerve mass or two of the
following:
■ Neurofibroma
■ Meningioma
■ Glioma
■ Schwannoma
■ Juvenile posterior subcapsular lenticular opacity
From Crawford AH, Schorry EK: Neurofibromatosis in children: the role
of the orthopaedist, J Am Acad Orthop Surg 7:217, 1999.
The criteria were formulated by a National Institutes of Health
Consensus Development Conference (National Institutes of Health
Consensus Development: National Institutes of Health Consensus
Development Conference Statement: neurofibromatosis. Bethesda, Md,
USA, July 13-15, 1987. Neurofibromatosis 1:172, 1988.)
References
Neurofibromatosis
1. Akbarnia BA, Gabriel KR, Beckman E, et al: Prevalence of scoliosis
in neurofibromatosis, Spine (Phila Pa 1976) 17(Suppl):S244, 1992.
2. Barker D, Wright E, Nguyen K, et al: Gene for von Recklinghausen
neurofibromatosis is in the pericentromeric region of chromosome
17, Science 236:1100, 1987.
3. Calvert PT, Edgar MA, Webb PJ: Scoliosis in neurofibromatosis.
The natural history with and without operation, J Bone Joint Surg
Br 71:246, 1989.
4. Cawthon RM, Weiss R, Xu GF, et al: A major segment of the
neurofibromatosis type 1 gene: cDNA sequence, genomic struc-
ture, and point mutations, Cell 62:193, 1990.
5. Chaglassian JH, Riseborough EJ, Hall JE: Neurofibromatous scolio-
sis. Natural history and results of treatment in thirty-seven cases,
J Bone Joint Surg Am 58:695, 1976.
6. Cohen MM Jr: Further diagnostic thoughts about the Elephant
Man, Am J Med Genet 29:777, 1988.
7. Crawford A: Neurofibromatosis. In Weinstein S, editor: The pedi-
atric spine: principles and practice, New York, 1994, Raven Press,
p 619.
8. Crawford AH: Pitfalls of spinal deformities associated with neu-
rofibromatosis in children, Clin Orthop Relat Res 245:29, 1989.
9. Crawford AH, Schorry EK: Neurofibromatosis in children: the role
of the orthopaedist, J Am Acad Orthop Surg 7:217, 1999.
10. Crowe FW, William J, Schull WJ, Neel JV, editors: A clinical,
pathological and genetic study of multiple neurofibromatosis,
Springfield, Ill, 1956, Charles C Thomas.
11. DiSimone RE, Berman AT, Schwentker EP: The orthopedic mani-
festation of neurofibromatosis. A clinical experience and review of
the literature, Clin Orthop Relat Res 230:277, 1988.
12. Evans DG, Huson SM, Donnai D, et al: A genetic study of type
2 neurofibromatosis in the United Kingdom. I. Prevalence, muta-
tion rate, fitness, and confirmation of maternal transmission effect
on severity, J Med Genet 29:841, 1992.
13. Funasaki H, Winter RB, Lonstein JB, et al: Pathophysiology of
spinal deformities in neurofibromatosis. An analysis of seventy-one
patients who had curves associated with dystrophic changes, J Bone
Joint Surg Am 76:692, 1994.
14. Gabriel KR: Neurofibromatosis, Curr Opin Pediatr 9:89, 1997.
15. Goldberg NS, Collins FS: The hunt for the neurofibromatosis
gene, Arch Dermatol 127:1705, 1991.
16. Gutmann DH, Aylsworth A, Carey JC, et al: The diagnostic evalu-
ation and multidisciplinary management of neurofibromatosis 1
and neurofibromatosis 2, JAMA 278:51, 1997.
17. Hefti F, Bollini G, Dungl P, et al: Congenital pseudarthrosis of
the tibia: history, etiology, classification, and epidemiologic data,
J Pediatr Orthop B 9:11, 2000.
18. Heim RA, Kam-Morgan LN, Binnie CG, et al: Distribution of 13
truncating mutations in the neurofibromatosis 1 gene, Hum Mol
Genet 4:975, 1995.
19. Huson SM, Harper PS, Compston DA: Von Recklinghausen neu-
rofibromatosis. A clinical and population study in south-east Wales,
Brain 111:1355, 1988.
20. Joseph KN, Bowen JR, MacEwen GD: Unusual orthopedic mani-
festations of neurofibromatosis, Clin Orthop Relat Res 278:17,
1992.
21. Kett-White R, Martin JL, Jones EW, et al: Malignant spinal neuro-
fibrosarcoma, Spine (Phila Pa 1976) 25:752, 2000.
22. Kim HW, Weinstein SL: Spine update. The management of scolio-
sis in neurofibromatosis, Spine (Phila Pa 1976) 22:2770, 1997.
23. Korf BR: Diagnostic outcome in children with multiple cafe au lait
spots, Pediatrics 90:924, 1992.
24. Lam KS, Mehdian H, White B: The effects of simple trauma on
patients with cervical spine neurofibromatosis: two case reports,
Eur Spine J 6:77, 1997.
25. Lubs ML, Bauer MS, Formas ME, et al: Lisch nodules in neurofi-
bromatosis type 1, N Engl J Med 324:1264, 1991.
26. MacCollin M, Mautner VF: The diagnosis and management of
neurofibromatosis 2 in childhood, Semin Pediatr Neurol 5:243,
1998.
27. Mautner VF, Tatagiba M, Lindenau M, et al: Spinal tumors in
patients with neurofibromatosis type 2: MR imaging study of fre-
quency, multiplicity, and variety, AJR Am J Roentgenol 165:951,
1995.

28. Morse RP: Neurofibromatosis type 1, Arch Neurol 56:364,
1999.
29. Mulvihill JJ, Parry DM, Sherman JL, et al: NIH conference. Neu-
rofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2
(bilateral acoustic neurofibromatosis). An update, Ann Intern Med
113:39, 1990.
30. National Institutes of Health consensus development conference
statement. Bethesda, MD, 13-15 July, 1987. Neurofibromatosis
1:172, 1988.
31. North KN: Neurofibromatosis 1 in childhood, Semin Pediatr
Neurol 5:231, 1998.
32. North KN, Riccardi V, Samango-Sprouse C, et al: Cognitive func-
tion and academic performance in neurofibromatosis. 1: consensus
statement from the NF1 Cognitive Disorders Task Force, Neurol-
ogy 48:1121, 1997.
33. Obringer AC, Meadows AT, Zackai EH: The diagnosis of
neurofibromatosis-1 in the child under the age of 6 years, Am J
Dis Child 143:717, 1989.
34. Ogilvie J: Neurofibromatosis. In Lonstein JE, Winter RB, Bradford
DS, Ogilvie, JW, editors: Moe’s textbook of scoliosis and other
deformities, Philadelphia, 1994, Saunders, p 33.
35. Papagelopoulos PJ, Mavrogenis AF, Galanis EC, et al:
Malignant fibrous histiocytoma of bone associated with type-1
neurofibromatosis. A case report, J Bone Joint Surg Am 87:399,
2005.
36. Prada CE, Rangwala FA, Martin LJ, et al: Pediatric plexiform
neurofibromas: impact on morbidity and mortality in neurofibro-
matosis type 1, J Pediatr 160:461, 2012.
37. Reith JD, Goldblum JR: Multiple cutaneous plexiform schwanno-
mas. Report of a case and review of the literature with particular
reference to the association with types 1 and 2 neurofibromatosis
and schwannomatosis, Arch Pathol Lab Med 120:399, 1996.
38. Rouleau GA, Merel P, Lutchman M, et al: Alteration in a new gene
encoding a putative membrane-organizing protein causes neuro-
fibromatosis type 2, Nature 363:515, 1993.
39. Seward GR: The Elephant Man. Part I, Br Dent J 169:173, 1990.
40. Sirois JL 3rd, Drennan JC: Dystrophic spinal deformity in neuro-
fibromatosis, J Pediatr Orthop 10:522, 1990.
41. Tilesius von Tilenau W, Ludwig CF: Historia pathologica singularis
cutis turpitudinis: jo. godofreid rheinhardi viri L annorum, Leipzig,
Germany, 1793, SL Crusius.
42. Trofatter JA, MacCollin MM, Rutter JL, et al: A novel moesin-,
ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2
tumor suppressor, Cell 72:791, 1993.
43. Trovó-Marqui AB, Goloni-Bertollo EM, Valério NI, et al: High
frequencies of plexiform neurofibromas, mental retardation, learn-
ing difficulties, and scoliosis in Brazilian patients with neurofibro-
matosis type 1, Braz J Med Biol Res 38:1441, 2005.
44. Tsukita S, Yonemura S: ERM (ezrin/radixin/moesin) family: from
cytoskeleton to signal transduction, Curr Opin Cell Biol 9:70,
1997.
45. Turra S, Santini S, Cagnoni G, et al: Gigantism of the foot: our
experience in seven cases, J Pediatr Orthop 18:337, 1998.
46. Vitale MG, Guha A, Skaggs DL: Orthopaedic manifestations of
neurofibromatosis in children: an update, Clin Orthop Relat Res
401:107, 2002.
47. von Reckinghausen F: Uber die mutiplen Finbrome der Haut und
ihre Beziehung zu den multiplen Neuromen, Berlin, 1882, August
Hirschwald.
48. Wallace MR, Marchuk DA, Andersen LB, et al: Type 1 neurofibro-
matosis gene: identification of a large transcript disrupted in three
NF1 patients, Science 249:181, 1990.
49. Wasa J, Nishida Y, Tsukushi S, et al: MRI features in the differen-
tiation of malignant peripheral nerve sheath tumors and neurofi-
bromas, AJR Am J Roentgenol 194:1568, 2010.
50. Wilde PH, Upadhyay SS, Leong JC: Deterioration of operative
correction in dystrophic spinal neurofibromatosis, Spine (Phila Pa
1976) 19:1264, 1994.
CHAPTER 41  Orthopaedic-Related Syndromes e521
Fibrodysplasia Ossificans Progressiva
Fibrodysplasia ossificans progressiva is a rare disorder of
connective tissue differentiation characterized by congenital
malformation of the great toe and progressive heterotopic
ossification of tendons, ligaments, fascia, and skeletal
muscle.5-8 Previously, it was also referred to as myositis
ossificans progressiva. This condition usually becomes
evident within the first 10 years of life, with an equal preva-
lence in males and females. The diagnosis can be readily
established if, while assessing the progressively developing
subfascial nodules or ossification, the clinician is aware of
the relationship between fibrodysplasia ossificans progres-
siva and the great toe deformity. Otherwise, uncertainty
about the cause of the painful lesions may lead to biopsy,
which should be avoided; biopsy almost certainly exacer-
bates the condition and, depending on the stage of matura-
tion of the biopsied specimen, can lead to confusion about
the histologic diagnosis.
Usually, fibrodysplasia ossificans progressiva begins in
childhood as painful, erythematous subfascial nodules,
usually located on the posterior neck and back. The indi-
vidual nodules occasionally resolve but more often progres-
sively worsen and eventually mature into heterotopic bone.
This transformation, which begins in childhood, progresses
throughout life, leading to numerous sites of heterotopic
ossification. This ossification spans normal joints and
severely debilitates the individual by eliminating motion
of the jaw, neck, spine, shoulders, hips, and more distal
joints. In recent years, numerous medical disciplines have
devoted attention to this rare debilitating disorder in the
hope that a better understanding will lead to more effective
treatment.
Cause
The cause of fibrodysplasia ossificans progressiva remains
unknown. The genetic defect and pathophysiology of the
disorder are unknown, and chromosomal anomalies have
not yet been identified. Although the condition is rare, clini-
cal and genetic evaluation of two small multigenerational
families revealed evidence of clinical and molecular hetero-
geneity and suggested the possibility of genetic heterogene-
ity in the disease.49 An autosomal dominant mode of
inheritance has been confirmed, with the most recent sub-
stantiation reported in 1993.9 Most cases, however, are
attributable to spontaneous genetic mutations within previ-
ously unaffected families.9
Kaplan and colleagues reported on the transmission of
this disorder from an affected parent to his offspring,24 and
Connor and associates reported on a three-generation family
with a wide range of phenotypic severity, ranging from
disabling ectopic bone formation and premature death to
an asymptomatic adult whose only manifestation was the
characteristic big toe malformations.9 Maternal gonadal
mosaicism may be another possible mode of transmission in
light of a report of two affected half-sisters with the same
unaffected mother and different unaffected fathers.21
Reports such as these are rare, for several reasons—the
condition itself is rare, reproductive fitness in affected
patients appears to be low, the severe deformity may lead
to difficulties with pregnancy and delivery, and there may
e522 SECTION VII  Other Orthopaedic Disorders
be a component of decreased fertility because of primary
and secondary amenorrhea.
Discrepancies are apparent in the results of attempts to
use genetic linkage analysis to identify the location of the
fibrodysplasia ossificans progressiva gene. Chromosomal
regions 17q21-22 and 4q27-314 have both been proposed
as the putative site of the causative mutation(s).13,32 It has
been suggested that the genetic marker human leukocyte
antigen B27 may be associated with the disease, as it is with
ankylosing spondylitis, another disorder causing less severe
hyperostosis. Other evidence refutes this, indicating that
the pathogenesis of these two disorders differs.7
Intense perivascular lymphocytic infiltration in early
lesions supports the discovery that lymphocytes may play a
role in the biochemical pathogenesis of heterotopic ossifica-
tion and fibrodysplasia ossificans progressiva.16 Bone mor-
phogenetic protein-4 (BMP-4), a potent osteogenic
morphogen, is uniquely overexpressed in the lymphoblas-
toid cells in periosseous fibroproliferative lesion cells of
patients with fibrodysplasia ossificans progressiva.†b
Inappropriate enhancement of the rate of BMP-4 tran-
scription has been suggested as an essential element in the
molecular pathophysiology of the disease.40 Despite this
overexpression of BMP-4 in patients with fibrodysplasia
ossificans progressiva, extensive analysis has revealed no
mutations of the BMP-4 gene in patients with the disorder.
This finding is supported by the absence of genetic linkage
of the BMP-4 locus with the disease in four affected mul-
tigenerational families worldwide.13 Differential gene
expression and somatic cell mitotic recombination studies
have been undertaken to identify altered cellular pathways
and the gene mutation(s) that lead to activation of the
BMP-4 pathways in patients with fibrodysplasia ossificans
progressiva.23,46a
BMP-4 is responsible for directing the formation and
regeneration of the skeletal and hematopoietic systems in
vertebrates, and although the BMP-4 gene does not contain
the mutation that causes fibrodysplasia ossificans progres-
siva, its overexpression almost certainly induces bone for-
mation in patients with the disease.24 It is known that BMPs
restrict their own activity by inducing secreted agonists in
responsive cells during embryonic skeletal formation and
postnatal bone growth.23,46a Findings in animal studies indi-
cate that BMP-4 can upregulate the expression of multiple
secreted BMP antagonists, establishing an autoregulatory
negative feedback loop.17 Kaplan and co-workers23 postu-
lated that a defect in this autoregulatory mechanism may
contribute to elevated BMP-4 activity in patients with fibro-
dysplasia ossificans progressiva, and cell lines from these
lesions in patients with both the sporadic and familial forms
of the disease exhibit a markedly attenuated upregulation
of the secreted BMP antagonists noggin and gremlin, which
may account in part for elevated levels of BMP-4 in patients
with this condition.2 Although most published findings
suggest that the noggin and gremlin genes are not the site
of genetic mutation in fibrodysplasia ossificans progressiva,
and it remains unclear whether the loss of these BMP antag-
onists affects the growth of bone tissues after embryogen-
esis, the dysfunction in the autoregulatory negative feedback
†b
References 15, 16, 30, 39, 45, 50, 51.
loop involving BMP-4 and its secreted antagonists may offer
insight into the disease mechanism.13,44,52
Specifically, heterotopic ossification in fibrodysplasia
ossificans progressiva begins in childhood and can be pre-
cipitated by soft tissue injury. Notably, levels of BMP-4 are
increased at the site of soft tissue injury. Normally, BMP-4
upregulates expression of its secreted antagonists, but a
blunted BMP-4 response after soft tissue injury permits
rapid expansion of a BMP-4 morphogenetic gradient that
may encourage progressive osteogenesis through an endo-
chondral pathway. The local growth of highly vascular, pre-
osseous fibroproliferative tissue in response to this BMP
overexpression would be magnified if the BMP-4 antagonist
response were blunted, theoretically explaining the bone
induction that occurs during flare-ups of the disease. This
process is exacerbated by the arrival of additional lympho-
cytes at the site of the soft tissue injury. Over time, a large,
vascular fibroproliferative mass results; it replaces skeletal
muscle tissue and matures through an endochondral process
into the highly restrictive extraarticular ribbons, sheets, and
plates of bone characteristic of the disease. Although this
hypothesis is plausible, extensive work is still necessary
to identify the primary genetic mutation associated with
this disorder and elucidate the involved BMP-4 regulatory
pathway.23,46a Certainly, fibrodysplasia ossificans progressiva
is one of the first genetic diseases in humans associated with
the disordered expression of BMP-4.
Inflammatory mast cells are present at every stage of
development of the lesions and are most pronounced during
the highly vascular fibroproliferative stage. Mobilization and
activation of inflammatory mast cells are therefore impli-
cated in the pathology of fibrodysplasia ossificans progres-
siva.40 It has also been hypothesized that the stromal cells
of early lesions may be locally recruited vascular cells or
cells of the bone marrow stroma that maintain the potential
to differentiate along an endochondral ossification pathway.20
Dysregulation of nuclear factor-kappa B (NF-κB), an inflam-
matory mediator that plays a critical role in developmental
skeletogenesis and suppression of BMP-4 expression, has
been explored and exonerated as a cause of BMP-4 overex-
pression in the disease.1
Clinical tests have not demonstrated any enzymatic or
metabolic abnormalities, with the exception of mild tran-
sient elevations in serum alkaline phosphatase levels during
new episodes of heterotopic ossification.
Histology and Pathology
The earliest lesions of fibrodysplasia ossificans progressiva
consist of loose myxoid fibrous tissue resembling the lesions
found in juvenile fibromatosis.26 The fibroblastic prolifera-
tion infiltrates and replaces normally formed fibrous con-
nective tissue and striated muscle. Numerous small blood
vessels are prominent in early lesions. Cells immunoreactive
for S-100 protein (expressed in chondroblasts) and carti-
laginous foci are scattered among proliferating fibroblasts.
Intense perivascular lymphocytic infiltration into normal-
appearing skeletal muscle has also been found in the very
early stages of fibrodysplasia ossificans progressiva.
Endochondral ossification is the prominent and iden­
tifying histologic feature of maturing lesions. Cartilage
and bone formation gradually replaces the fibroblastic
 CHAPTER 41  Orthopaedic-Related Syndromes e523

proliferation in muscle and adjacent connective tissue. The

newly developed marrow cavity is adipose. Only the absence
of a normal anatomic orientation reveals this bone as being
abnormal.
Fibrodysplasia ossificans progressiva lesions are staged
according to pathologic and morphologic changes.14,16 Stage
1A lesions involve intense perivascular aggregations, without
invasion of surrounding tissues. Stage 1B is characterized by
lymphocytic infiltration from the vessels into the surround-
ing muscle, with myocytolysis and myonecrosis. Stage 1C
lesions are typified by the appearance of fibroproliferative
tissue that surrounds and invades the adjacent muscle. Pro-
nounced vascularity emerges in stage 2A, and stage 2B is
characterized by the appearance of cartilage. Finally, stage
2C is identified by endochondral bone formation and mature
heterotopic bone. Inflammatory mast cells are present at A
every stage of lesion development and are most pronounced
during the highly vascular fibroproliferative stage.14
Abnormal levels of basic fibroblast growth factor have
been found in patients with fibrodysplasia ossificans
progressiva.23,46a Basic fibroblast growth factor is an
extremely potent in vivo stimulator of angiogenesis, and
urinary levels of this factor are elevated during acute disease
flare-ups. This may provide a biochemical basis for consider-
ing antiangiogenic therapy to inhibit endochondral osteo-
genesis in this disorder. Along with information about
BMP-4, this information about basic fibroblast growth factor
supports the concept that defective regulation of the induc-
tion of endochondral osteogenesis is the main pathogenetic
mechanism in this disorder.

Clinical Features
The primary congenital skeletal abnormality in patients
with fibrodysplasia ossificans progressiva is malformation of B
the great toes.48 The toes are short, tend to be in a valgus
position, and have an abnormally shaped proximal phalanx
(Fig. 41-43). They may become monophalangic if the
abnormal epiphyses fuse. In young children, this may be the
first hint of the diagnosis.34 Often, no attention is given to
the toe deformity until painful nodules or ossification devel-
ops. Some patients have clinically abnormal short thumbs
because of short first metacarpals (Fig. 41-44). Corneal
keloid development has been reported following ocular
surgery in patients with the disease.11
The most common site of onset of the heterotopic ossi-
fication is the neck, followed by the spine and shoulder
girdle (Fig. 41-45).8 Other primary sites that have been
reported include the elbow and wrist, knee, and hip. The
average age at onset is 5 years (range, birth to 25 years),
and almost 80% of patients have some restrictive hetero-
topic ossification by age 7 years. By age 15, almost 95% of
patients have severely restricted mobility in the upper
C
limbs. The typical pattern is for the heterotopic ossification
to proceed in a direction that is axial to appendicular, FIGURE 41-43  A, This 3-year-old boy with fibrodysplasia ossificans
craniad to caudad, and proximal to distal. progressiva has short, valgus-positioned great toes. B, The
As the lesions develop, they tend to go through proximal phalanx is abnormally shaped, and the interphalangeal
several stages.26 During the first few weeks (early lesions), joint is fixed in valgus. C, In another 3-year-old, the proximal
phalanx is fused to the first metatarsal.
pain, erythema, swelling, warmth, and tenderness are
noted.35 After several weeks (intermediate lesions), the
swelling begins to subside. There is a decrease in pain, ery-
thema, and tenderness but an increase in induration. After
e524 SECTION VII  Other Orthopaedic Disorders
FIGURE 41-44  At age 8 years, the patient shown in Figure 41-43
(part C) has an extremely short first metacarpal and short thumbs.
approximately 12 weeks (late lesions), the swelling disap-
pears and there remains a hard nontender lesion that is
visible radiographically as a new area of ossification. Severe
disability subsequently develops secondary to the extraar-
ticular ankylosis of the major joints.
In patients with fibrodysplasia ossificans progressiva, any
form of trauma to the deep tissues is often a stimulus for
new bouts of heterotopic ossification, including relatively
minor events such as immunizations and dental injec-
tions.29,31,38 Patients can often date the onset of new lesions
to the time of an otherwise minor soft tissue injury, and
they frequently anticipate the onset of a focal flare-up
within several days of the trauma. Biopsies often trigger a
clinical flare-up, but the mechanism is not understood.
Flare-ups have also been linked to infection with influenza-
like viral illnesses, which may be a source of previously
unrecognized muscle injury in these patients.43 Unlike other
forms of heterotopic ossification, the ossification that occurs
in patients with fibrodysplasia ossificans progressiva is irre-
versible. Resection of a mature lesion invariably leads to the
formation of new and more robust ossification.
The presenting limitation of motion often occurs in
the neck as ossification matures along the cervical spine
(Fig. 41-46). In addition to axial skeleton involvement,
ossification occurs in the shoulder girdle and severely
restricts motion of the upper extremities. Involvement
of the wrists and elbows occurs much later, if at all. Simi-
larly, as the disorder progresses in the lower extremities,
limitation of range of motion occurs earlier in the hip than
in the knee or ankle (Fig. 41-47).41,42 By age 30 years, most
patients are capable of a sitting or a standing position only;
few are able both to sit and stand with comfort and
stability.
Limited jaw mobility creates great difficulty in feeding
and maintaining adequate nutrition. Surgical attempts to
restore mobility of the jaw through resection of ossified
muscle have been unsuccessful.10
Spinal deformity is common in patients with fibrodys-
plasia ossificans progressiva.46 Approximately 65% of
patients have radiographic evidence of scoliosis, and 42%
have hypokyphosis. These rapidly developing abnormalities
are usually associated with spontaneously occurring lesions
in the paravertebral soft tissues. These lesions ossify before
skeletal maturity, forming unilateral bony bridges along the
spine. This limits growth on the ipsilateral side of the spine
while growth continues uninhibited on the contralateral
side. Over time, a severe scoliotic deformity may result
(Fig. 41-48).
Fortunately, the diaphragm, as well as the extraocular,
cardiac, and smooth muscles, are characteristically spared.
Patients have extremely limited chest expansion and depend
on diaphragmatic breathing. Lung volumes are reduced to
approximately 44% of normal values, but flow rates are
relatively normal.28 Electrocardiographic evidence of right
ventricular dysfunction is found in older patients with fibro-
dysplasia ossificans progressiva. The presence of severely
restrictive chest wall disease is associated with a high
incidence of right ventricular abnormalities on the electro-
cardiogram. Whether cor pulmonale eventually occurs has
not been clearly demonstrated. Premature death may result
from respiratory failure because of restricted movement of
the thoracic cage or from inanition caused by ankylosis of
the jaw. The average life expectancy in this disorder is 56
years, with the most common cause being cardiorespiratory
failure from thoracic constriction.27
Radiographic Findings
Radiographs of the heterotopic skeleton demonstrate fea-
tures of normal bone modeling. These include the develop-
ment of tubular and flat bones with mature cortical and
trabecular organization, presence of well-defined cortical-
endosteal borders enclosing medullary canals, and presence
of metaphyseal funnelization in isolated ossicles or at sites
of synostoses. Characteristics of bone remodeling include
the response of heterotopic bone to weight-bearing stress
with osteosclerosis of use and osteopenia of disuse and the
resistance of heterotopic bone to fatigue failure, with the
absence of pathologic fractures and stress fractures.25
Treatment
Tripping and falling can be catastrophic in patients with
fibrodysplasia ossificans progressiva.19 Two thirds of falls
lead to painful flare-ups of the disease, and 50% of all falls
lead to permanent disability, particularly if trauma to the
head occurs. Therefore precautions should be taken to mini-
mize the risk of injury without compromising the patient’s
functional level and independence. This includes limiting
high-risk activities, using protective head gear, installing
safety features in the home, and augmenting stabilizing and
protective functions.
Fractures that occur in normal or heterotopic bone can
be expected to heal uneventfully, although other sites of
ossification may evolve.12
 CHAPTER 41  Orthopaedic-Related Syndromes e525

C D
FIGURE 41-45  A and B, At age 4 years, the patient shown in Figure 41-43 (part A) has no range of motion in his neck because of
heterotopic ossification in the posterior soft tissues. C and D, Neither of his shoulders has any mobility.

Surgical excision of heterotopic bone is futile because
any form of trauma (including surgery) predictably stimu-
lates even more abundant heterotopic ossification. This
makes orthopaedic management difficult, especially in
patients with severe spinal deformities or ankylosed lower
extremities fixed in an awkward position. If the lower
extremities require repositioning for improved sitting, the
patient and surgeon must be prepared for the possibility of
the development of other lesions secondary to the operative
stress. Deformity of the spine is perplexing, and operative
intervention for scoliosis exacerbates the disease. Equally
worrisome in a young patient is that anterior growth of a
scoliotic spine that is tethered posteriorly can lead to
significant deformity and pelvic obliquity. One study
reported that the risks associated with operative correction
of spinal deformities in fibrodysplasia ossificans progressiva
may outweigh the benefits.45 However, in an occasional
patient, the risk of progressive spinal deformity may warrant
surgical arthrodesis (see Fig. 41-48).33,36,37,47
Anesthesia also presents a risk in these patients because
of neck stiffness, altered bony anatomy, small oral access,
restrictive pulmonary disease, and abnormalities in cardiac
conduction.33,36,37,47
There is no clearly effective medical therapy for fibro-
dysplasia ossificans progressiva. Etidronate has been studied
because of its inhibitory effect on bone mineralization and
e526 SECTION VII  Other Orthopaedic Disorders
A B
FIGURE 41-46  Fibrodysplasia ossificans progressiva. A, At age 6 years, the patient shown in Figures 41-43 (part C) and 41-44 had
ossification of the soft tissue of his neck. B, Thirteen years later, the cervical spine was completely fused.
FIGURE 41-47  Fibrodysplasia ossificans progressiva. At age 19
years, the hips of the patient shown in Figure 41-46 were
ankylosed in 45 degrees of flexion.
its potential to impair the rapid ossification process observed
after acute episodes of fibrodysplasia ossificans progressiva.
The results of studies using IV etidronate and oral steroids
suggest that these agents may provide some benefit.6 When
used at high doses for sustained periods, however, etidro-
nate causes osteomalacia and may impair the ossification of
normal bone, so its clinical usefulness is limited.23,46a Isotret-
inoin (13-cis-retinoic acid) also inhibits the differentiation
of mesenchymal tissue into cartilage and bone, but a study
examining its effectiveness was unable to determine whether
it was beneficial or detrimental in preventing disease flare-
ups in regions that had even minimal heterotopic ossifica-
tion when therapy began.53 The authors thus recommended
extreme caution when using isotretinoin in patients with
fibrodysplasia ossificans progressiva.
Gene therapy with BMP antagonists may hold promise
in the future, based on existing knowledge. Mouse models
of fibrodysplasia ossificans progressiva have been devel-
oped.18,22 In one report, a mouse model of heterotopic
osteogenesis was created using an injectable basement
membrane matrix (osteoconductive material) impregnated
with BMP-4.18 In this model, implants containing BMP-4
induced aggressive fibroproliferative activity with chondro-
genesis, except in animals pretreated with local administra-
tion or systemic delivery of the BMP antagonist noggin via
somatic cell gene transfer. In these treated animals, BMP-4
induced no significant ossification. Therefore delivery of the
BMP antagonist protein noggin prevents BMP-4–induced
heterotopic ossification in a mouse model of the disease.18
In addition to noggin, other classes of BMP antagonists have
been identified, including the follistatin, chordin, and DAN-
Cerberus families of inhibitors, each of which demonstrates
unique binding properties.18 Numerous obstacles must be
overcome before gene therapy can be used to treat patients,
including a determination of its long-term safety with regard
to bone development, the development of safe viral vectors
for gene delivery, and the use of inducible promoters to
regulate gene activity.18,23,46a
Because the mobilization and activation of inflammatory
mast cells are implicated in the pathology of fibrodysplasia
ossificans progressiva, these processes may represent a new
target for pharmacologic interventions.40 Stem cell therapy
may also play a future role in treatment of the disease
because hematopoietic stems cells are known to give rise to
multiple mesenchymal tissues, including bone.4,14 Trans-
plantation to replace the hematopoietic stem cell pool of
these patients may therefore prove useful. Additionally, a
report of the short-term arrest of fibrodysplasia ossificans
progressiva symptoms in a patient undergoing bone marrow
transplantation has led to the suggestion that if B cells are
 CHAPTER 41  Orthopaedic-Related Syndromes e527

FIGURE 41-48  Fibrodysplasia ossificans progressiva.

A to C, At age 4 years, the patient shown in Figure
41-45 had numerous sites of ossification in the
paravertebral tissues of his back. D, This limited growth
and led to a 47-degree scoliotic deformity of the
lumbar spine. E, Because of the likelihood that the
progressive scoliosis would create excessive deformity
between the trunk and pelvis, anterior fusion of the
lumbar spine was performed. The scoliosis remained
stabilized 4 years postoperatively at 48 degrees.

A B

C D E

found to be the lymphocytes responsible for excess BMP-4
production, use of rituximab, a monoclonal anti-CD20 anti-
body that targets B cells, may offer a future treatment
alternative.3
At present, for early lesions, it is reasonable to use anti-
inflammatory drugs, including corticosteroids, in addition to
analgesics and etidronate until the acute phase subsides.
Etidronate must be used cautiously, however, because
excessive doses have a deleterious but reversible effect on
metaphyseal bone (rachitic-like changes).48 With modern
treatment, particularly the ability to provide nutrition
and airway management, relatively long-term survival is
possible.
References
Fibrodysplasia Ossificans Progressiva
1. Ahn J, Feldman G, Terry L, et al: Exoneration of NF-kappa B
dysregulation in fibrodysplasia ossificans progressiva, Clin Orthop
Relat Res 406:205, 2003.
2. Ahn J, Serrano de la Pena L, Shore EM, et al: Paresis of a bone
morphogenetic protein-antagonist response in a genetic disorder of
heterotopic skeletogenesis, J Bone Joint Surg Am 85:667, 2003.
e528 SECTION VII  Other Orthopaedic Disorders
3. Altschuler EL: Consideration of rituximab for fibrodysplasia ossi-
ficans progressiva, Med Hypotheses 63:407, 2004.
4. Bosch P, Musgrave DS, Lee JY, et al: Osteoprogenitor cells within
skeletal muscle, J Orthop Res 18:933, 2000.
5. Brantus JF, Meunier PJ: Effects of intravenous etidronate and oral
corticosteroids in fibrodysplasia ossificans progressiva, Clin Orthop
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6. Bridges AJ, Hsu KC, Singh A, et al: Fibrodysplasia (myositis)
ossificans progressiva, Semin Arthritis Rheum 24:155, 1994.
7. Calvert GT, Shore EM: Human leukocyte antigen B27 allele is not
correlated with fibrodysplasia ossificans progressiva, Clin Orthop
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8. Cohen RB, Hahn GV, Tabas JA, et al: The natural history of het-
erotopic ossification in patients who have fibrodysplasia ossificans
progressiva. A study of forty-four patients, J Bone Joint Surg Am
75:215, 1993.
9. Connor JM, Skirton H, Lunt PW: A three-generation family with
fibrodysplasia ossificans progressiva, J Med Genet 30:687, 1993.
10. Crofford LJ, Brahim JS, Zasloff MA, et al: Failure of surgery and
isotretinoin to relieve jaw immobilization in fibrodysplasia ossifi-
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48:204, 1990.
11. Dhooge MR, Idema AJ: Fibrodysplasia ossificans progressiva and
corneal keloid, Cornea 21:725, 2002.
12. Einhorn TA, Kaplan FS: Traumatic fractures of heterotopic bone
in patients who have fibrodysplasia ossificans progressiva. A report
of 2 cases, Clin Orthop Relat Res 308:173, 1994.
13. Feldman G, Li M, Martin S, et al: Fibrodysplasia ossificans progres-
siva, a heritable disorder of severe heterotopic ossification, maps
to human chromosome 4q27-31, Am J Hum Genet 66:128, 2000.
14. Gannon FH, Glaser D, Caron R, et al: Mast cell involvement in
fibrodysplasia ossificans progressiva, Hum Pathol 32:842, 2001.
15. Gannon FH, Kaplan FS, Olmsted E, et al: Bone morphogenetic
protein 2/4 in early fibromatous lesions of fibrodysplasia ossificans
progressiva, Hum Pathol 28:339, 1997.
16. Gannon FH, Valentine BA, Shore EM, et al: Acute lymphocytic
infiltration in an extremely early lesion of fibrodysplasia ossificans
progressiva, Clin Orthop Relat Res 346:19, 1998.
17. Gazzerro E, Gangji V, Canalis E: Bone morphogenetic proteins
induce the expression of noggin, which limits their activity in
cultured rat osteoblasts, J Clin Invest 102:2106, 1998.
18. Glaser DL, Economides AN, Wang L, et al: In vivo somatic cell
gene transfer of an engineered Noggin mutein prevents BMP4-
induced heterotopic ossification, J Bone Joint Surg Am 85:2332,
2003.
19. Glaser DL, Rocke DM, Kaplan FS: Catastrophic falls in patients
who have fibrodysplasia ossificans progressiva, Clin Orthop Relat
Res 346:110, 1998.
20. Hegyi L, Gannon FH, Glaser DL, et al: Stromal cells of fibrodys-
plasia ossificans progressiva lesions express smooth muscle lineage
markers and the osteogenic transcription factor Runx2/Cbfa-1:
clues to a vascular origin of heterotopic ossification? J Pathol
201:141, 2003.
21. Janoff HB, Muenke M, Johnson LO, et al: Fibrodysplasia ossificans
progressiva in two half-sisters: evidence for maternal mosaicism,
Am J Med Genet 61:320, 1996.
22. Kan L, Hu M, Gomes WA, et al: Transgenic mice overexpressing
BMP4 develop a fibrodysplasia ossificans progressiva (FOP)–like
phenotype, Am J Pathol 165:1107, 2004.
23. Kaplan FS, Glaser DL, Hebela N, et al: Heterotopic ossification,
J Am Acad Orthop Surg 12:116, 2004.
24. Kaplan FS, McCluskey W, Hahn G, et al: Genetic transmission of
fibrodysplasia ossificans progressiva. Report of a family, J Bone Joint
Surg Am 75:1214, 1993.
25. Kaplan FS, Strear CM, Zasloff MA: Radiographic and scintigraphic
features of modeling and remodeling in the heterotopic skeleton
of patients who have fibrodysplasia ossificans progressiva, Clin
Orthop Relat Res 304:238, 1994.
26. Kaplan FS, Tabas JA, Gannon FH, et al: The histopathology
of fibrodysplasia ossificans progressiva. An endochondral process,
J Bone Joint Surg Am 75:220, 1993.
27. Kaplan FS, Zasloff MA, Kitterman JA, et al: Early mortality and
cardiorespiratory failure in patients with fibrodysplasia ossificans
progressiva, J Bone Joint Surg Am 92:686, 2010.
28. Kussmaul WG, Esmail AN, Sagar Y, et al: Pulmonary and cardiac
function in advanced fibrodysplasia ossificans progressiva, Clin
Orthop Relat Res 346:104, 1998.
29. Lanchoney TF, Cohen RB, Rocke DM, et al: Permanent hetero-
topic ossification at the injection site after diphtheria-tetanus-
pertussis immunizations in children who have fibrodysplasia
ossificans progressiva, J Pediatr 126:762, 1995.
30. Lanchoney TF, Olmsted EA, Shore EM, et al: Characterization of
bone morphogenetic protein 4 receptor in fibrodysplasia ossificans
progressiva, Clin Orthop Relat Res 346:38, 1998.
31. Luchetti W, Cohen RB, Hahn GV, et al: Severe restriction in jaw
movement after routine injection of local anesthetic in patients
who have fibrodysplasia ossificans progressiva, Oral Surg Oral Med
Oral Pathol Oral Radiol Endod 81:21, 1996.
32. Lucotte G, Bathelier C, Mercier G, et al: Localization of the gene
for fibrodysplasia ossificans progressiva (FOP) to chromosome
17q21-22, Genet Couns 11:329, 2000.
33. Meier R, Bolliger KP: [Anesthesiologic problems in patients with
fibrodysplasia ossificans progressiva.] Anaesthesist 45:631, 1996.
34. Mishima K, Kitoh H, Katagiri T, et al: Early clinical and radio-
graphic characteristics in fibrodysplasia ossificans progressiva: a
report of two cases, J Bone Joint Surg Am 93:e52, 2011.
35. Moriatis JM, Gannon FH, Shore EM, et al: Limb swelling in
patients who have fibrodysplasia ossificans progressiva, Clin Orthop
Relat Res 336:247, 1997.
36. Nargozian C: The airway in patients with craniofacial abnormali-
ties, Paediatr Anaesth 14:53, 2004.
37. Newton MC, Allen PW, Ryan DC: Fibrodysplasia ossificans pro-
gressiva, Br J Anaesth 64:246, 1990.
38. Nussbaum BL, O’Hara I, Kaplan FS: Fibrodysplasia ossificans pro-
gressiva: report of a case with guidelines for pediatric dental and
anesthetic management, ASDC J Dent Child 63:448, 1996.
39. Olmsted EA, Gannon FH, Wang ZQ, et al: Embryonic overexpres-
sion of the c-Fos protooncogene. A murine stem cell chimera
applicable to the study of fibrodysplasia ossificans progressiva in
humans, Clin Orthop Relat Res 346:81, 1998.
40. Olmsted EA, Kaplan FS, Shore EM: Bone morphogenetic protein-4
regulation in fibrodysplasia ossificans progressiva, Clin Orthop
Relat Res 408:331, 2003.
41. Rocke DM, Zasloff M, Peeper J, et al: Age- and joint-specific risk
of initial heterotopic ossification in patients who have fibrodyspla-
sia ossificans progressiva, Clin Orthop Relat Res 301:243, 1994.
42. Sawyer JR, Klimkiewicz JJ, Iannotti JP, et al: Mechanism for supe-
rior subluxation of the glenohumeral joint in fibrodysplasia ossifi-
cans progressiva, Clin Orthop Relat Res 346:130, 1998.
43. Scarlett RF, Rocke DM, Kantanie S, et al: Influenza-like viral ill-
nesses and flare-ups of fibrodysplasia ossificans progressiva, Clin
Orthop Relat Res 423:275, 2004.
44. Semonin O, Fontaine K, Daviaud C, et al: Identification of three
novel mutations of the noggin gene in patients with fibrodysplasia
ossificans progressiva, Am J Med Genet 102:314, 2001.
45. Shafritz AB, Shore EM, Gannon FH, et al: Overexpression of
an osteogenic morphogen in fibrodysplasia ossificans progressiva,
N Engl J Med 335:555, 1996.
46. Shah PB, Zasloff MA, Drummond D, et al: Spinal deformity in
patients who have fibrodysplasia ossificans progressiva, J Bone Joint
Surg Am 76:1442, 1994.
46a.  Shi S, Cai J, de Gorter DJ, et al: Antisense-oligonucleotide medi-
ated exon skipping in activin-receptor-like kinase 2: inhibiting the
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 CHAPTER 41  Orthopaedic-Related Syndromes e529

47. Singh A, Ayyalapu A, Keochekian A: Anesthetic management in causes excessive motion in these areas of normally immobile
fibrodysplasia ossificans progressiva (FOP): a case report, J Clin skin (Fig. 41-50). The skin in some individuals is extremely
Anesth 15:211, 2003. thin, similar to cigarette paper or parchment (Fig. 41-51).
48. Smith R: Fibrodysplasia (myositis) ossificans progressiva. Clinical
Some patients bruise easily, with persistent hyperpigmenta-
lessons from a rare disease, Clin Orthop Relat Res 346:7, 1998.
tion in the bruised areas. In others, masses called pseudo-
49. Virdi AS, Shore EM, Oreffo RO, et al: Phenotypic and molecular
heterogeneity in fibrodysplasia ossificans progressiva, Calcif Tissue tumors form at sites of friction, such as the elbows, heels,
Int 65:250, 1999. and knees. Bleeding gums occur in some forms of Ehlers-
50. Wozney JM, Rosen V: Bone morphogenetic protein and bone Danlos syndrome.
morphogenetic protein gene family in bone formation and repair, Joint hypermobility is present in all forms. In most cases,
Clin Orthop Relat Res 346:26, 1998. there is hyperextensibility of the joints of the fingers, wrists,
51. Xu M, Shore EM: Mutational screening of the bone morphogenetic
protein 4 gene in a family with fibrodysplasia ossificans progressiva,
Clin Orthop Relat Res 346:53, 1998.
52. Xu MQ, Feldman G, Le Merrer M, et al: Linkage exclusion and
mutational analysis of the noggin gene in patients with fibrodys-
plasia ossificans progressiva (FOP), Clin Genet 58:291, 2000.
53. Zasloff MA, Rocke DM, Crofford LJ, et al: Treatment of patients
who have fibrodysplasia ossificans progressiva with isotretinoin,
Clin Orthop Relat Res 346:121, 1998.

Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome refers to a group of inherited dis-
orders characterized by abnormalities of collagen metabo-
lism that result in varying degrees of joint laxity, skin
hyperelasticity, and abnormalities of other organs. In 1682,
FIGURE 41-50  Hyperlaxity of the skin on the sole of the foot in
van Meeckeren16 described the first case, noting extraordi-
Ehlers-Danlos syndrome.
nary dilatability of the skin. Ehlers, in 1901, described
patients with loose joints and subcutaneous hemorrhages.6
Danlos, in 1908, added subcutaneous tumors that may
develop at pressure points to the description.5 Although
more than 13 types of Ehlers-Danlos syndrome have been
identified, some characteristics are common among afflicted
patients.

Clinical Features
Skin manifestations vary from mild laxity to extreme laxity
(Fig. 41-49). In some cases, the patient’s skin over the
elbow can be pulled out 10 to 15 cm, with remarkably
delayed relaxation. Elastic skin over the palms and soles

FIGURE 41-49  Hyperlaxity of the skin of the elbow in Ehlers- FIGURE 41-51  Hyperpigmented, cigarette paper–like skin on the
Danlos syndrome. legs of a 10-year-old boy with Ehlers-Danlos syndrome.
e530 SECTION VII  Other Orthopaedic Disorders
FIGURE 41-52  Hyperextension of the metacarpal joint of the
index finger in Ehlers-Danlos syndrome.
elbows, knees, and ankles (Fig. 41-52). Specific degrees of
hypermobility of these five areas were considered diagnostic
of pathologic laxity by Wynne-Davies (Fig. 41-53).18 In
more severe cases, the joints can be distracted to an exces-
sive degree. Some patients have a history of recurrent dis-
locations of the patellae or shoulders. In the most severe
cases, joint dislocations become chronic or fixed. Many
patients have chronic joint pain, most often in the shoul-
ders, hands, and knees. The pain is usually refractory to
intervention.15 Chronic effusions and hemarthrosis are
sometimes present. Scoliosis, spondylolisthesis, and atlan-
toaxial instability occur occasionally.
Vascular, pulmonary, and intestinal ruptures occur
in type IV Ehlers-Danlos syndrome and are often life-
threatening.8,9,12 Wound dehiscence may be a problem in
any patient with skin fragility.
Many children with joint hypermobility do not meet the
criteria for a specific diagnosis. Adib and co-workers noted
that these children often present with arthralgias, gait devia-
tions, clumsiness, and easy bruising.1 Future studies may
further characterize this group of children.
Classification
Ehlers-Danlos syndrome was described in 1986 in the Berlin
nosology by Beighton and associates.3 The nosology was
revised in 1998, with major and minor criteria established
for each type (Table 41-2).1,3
Type 1: Classic
Inheritance is autosomal dominant. The major diagnostic
criteria are skin hyperextensibility, widened atrophic scars,
and joint hypermobility. The minor criteria are smooth,
velvety skin, molluscoid pseudotumors, subcutaneous
spheroids, complications of joint laxity, muscle hypotonia
with delayed gross motor development, easy bruising, and
other manifestations of tissue laxity and fragility. Another
minor criterion is a positive family history.
Type 2: Hypermobility  easy bruising, muscle hypotonia, kyphoscoliosis, and osteo-
Inheritance is autosomal dominant. The major criteria are
skin involvement (hyperextensibility, smooth velvety skin,
or both), and generalized joint hypermobility. The minor
criteria are recurring joint dislocations, chronic joint or limb
pain, and a positive family history. In this type, joint laxity
is the dominant manifestation, and skin extensibility is vari-
able. These individuals may have musculoskeletal pain that
can be debilitating at times, which correlates with the
degree of joint laxity.17
Type 3: Vascular 
Inheritance is autosomal dominant. The major diagnostic
criteria are thin translucent skin and arterial, intestinal, or
uterine fragility or rupture. Extensive bruising and a char-
acteristic facial appearance (thin, delicate, pinched nose,
thin lips, tight skin, hollow cheeks, prominent staring eyes)
are other major criteria. Minor criteria are acrogeria, small
joint hypermobility, tendon and muscle rupture, clubfoot,
early-onset varicose veins, arteriovenous or carotid-
cavernous sinus fistula, pneumothorax, gingival recession,
positive family history, and sudden death in a close relative.
The basic defect is a mutation in the COL3A1 gene, which
results in abnormal procollagen III synthesis. In a study of
patients with this diagnosis, 90% survived free of vascular
complications at age 20 years and 39% at age 40, but only
20% at age 60.12
Type 4: Kyphoscoliotic
Inheritance is autosomal recessive, and the defect is a defi-
ciency of lysyl hydroxylase, a collagen-modifying enzyme.
The major diagnostic criteria are generalized joint laxity,
severe muscle hypotonia at birth, scoliosis at birth that is
progressive, and scleral fragility, with rupture of the ocular
globe. The minor criteria are tissue fragility, atrophic scars,
easy bruising, arterial rupture, marfanoid habitus, microcor-
nea, osteopenia, and a positive family history. This type may
resemble the severe infantile form of Marfan syndrome.
One report described a patient followed without treatment.
Between ages 9 and 29 years, the curvature progressed to
115 degrees, with severe hyperkyphosis.11
The kyphoscoliotic type of Ehlers-Danlos syndrome has
also been called type 6a. Patients have moderate skin and
joint laxity. Vascular rupture may occur even before birth.14
They may have ectopy of the lens of the eye, and scoliosis
usually occurs. The deficiency in lysine content results in
poor cross-linking of collagen.4,13 In one patient with kypho-
scoliosis, meningeal cysts were present in the spinal canal.4
In a series of five patients treated with spinal instrumenta-
tion and fusion (four having anterior surgery), two serious
vascular complications occurred—one avulsion of the seg-
mental arteries and rupture of the iliac artery and vein, and
one avulsion of the superior gluteal artery during iliac crest
bone graft exposure.2 Early diagnosis is possible by noting
increased length at birth, muscular hypotonia, wrist drop,
and kyphoscoliosis in infancy or at birth.7,14
Type 5: Arthrochalasis
Inheritance is autosomal dominant. The major criteria are
extreme hyperlaxity of the joints, with recurrent sublux-
ations, and bilateral congenital hip dislocation. Minor crite-
ria are skin hyperextensibility, tissue fragility, atrophic scars,
penia. Patients are not short of stature, except as a compli-
cation of severe spinal deformity. The biochemical defect is
determined by electrophoretic demonstration of pro-alpha1
or pro-alpha2 chains from dermal collagen. Also, there is
 CHAPTER 41  Orthopaedic-Related Syndromes e531

A B

C
FIGURE 41-53  Criteria for ligamentous laxity (after Wynne-Davies18). A, Flexion of the thumb to the volar forearm. B, Dorsiflexion
of the fingers parallel to the forearm. C, Hyperextension of the elbow to 15 degrees. D, Hyperextension of the knee to 15 degrees.
E, Dorsiflexion of the ankle to 60 degrees.

complete or partial skipping of exon 6 in COL1A1 or
COL1A2.
Type 6: Dermatosparaxis
Inheritance is autosomal recessive. This type is caused by a
deficiency of procollagen I N-terminal peptidase. The major
diagnostic criteria are severe skin fragility and sagging
redundant skin. The minor criteria are a soft, doughy skin
texture, easy bruising, premature rupture of fetal mem-
branes; and large hernias.2,3
Treatment
There are no specific treatments to correct the biochemical
defects responsible for the collagen abnormalities. Joint dis-
locations are initially treated with standard immobilization
e532 SECTION VII  Other Orthopaedic Disorders

Table 41-2  Revised Classification of Ehlers-Danlos Syndrome

Type Inheritance Major Criteria Minor Criteria Cause

1:  Classic Autosomal Skin hyperextensibility; Smooth, velvety skin; No uniform cause known
dominant widened atrophic molluscoid pseudotumors;
scars; joint subcutaneous spheroids;
hypermobility complications of joint
hypermobility; muscle
hypotonia; easy bruising;
manifestations of tissue
extensibility and fragility;
surgical complications
2:  Hypermobility Autosomal Skin involvement; Recurring joint dislocations; Unknown
dominant generalized joint chronic joint or limb pain;
hypermobility positive family history
3:  Vascular Autosomal Thin, translucent skin; Acrogeria; hypermobility of Structurally abnormal
dominant arterial, intestinal, small joints; tendon and collagen type III or
uterine fragility or muscle rupture; clubfoot; mutation in COL3A1 gene
rupture; early-onset varicose veins;
characteristic facial arteriovenous, carotid-
appearance cavernous sinus fistula;
pneumothorax; gingival
recession; positive family
history; sudden death in
close relative
4:  Kyphoscoliotic Autosomal Generalized joint laxity; Tissue fragility, including Deficiency in lysyl
recessive severe muscle atrophic scars, easy hydroxylase;
hypotonia at birth; bruising; arterial rupture; homozygosity or
scoliosis at birth marfanoid habitus; compound heterozygosity
(progressive); scleral microcornea; radiologic for mutant PLOD allele(s)
fragility and rupture osteopenia; family history
of ocular globe
5:  Arthrochalasis Autosomal Severe generalized Skin hyperextensibility; tissue Mutations leading to
dominant joint hypermobility fragility; easy bruising; deficient processing of
with recurrent muscle hypotonia; the amino-terminal end
subluxations; kyphoscoliosis; radiologic of pro-alpha1 (type A) or
congenital bilateral osteopenia pro-alpha2 (type B) chains
hip dislocation of collagen type I because
of skipping of exon 6 in
COL1A1 or COL1A2 gene
6:  Dermatosparaxis Autosomal Severe skin fragility; Soft, doughy skin texture; Deficiency in procollagen I
recessive sagging, redundant easy bruising; premature N-terminal peptidase
skin rupture of fetal caused by homozygosity
membranes; large hernias of mutant allele

methods, although recurrences are expected; these are dif- References

ficult to manage, and standard procedures often fail.15 Bony
realignment, when appropriate, is more likely to stabilize a
joint than soft tissue procedures. Wound dehiscence and
healing complications are common, and surgeons should
consider more rigorous closure techniques and wound pro-
tection for longer periods than usual. Patients should be
warned that unsightly scarring is a possibility from surgery.
Severe bleeding complications have been reported with
anterior surgery for spine deformity, and several publica-
tions have noted that kyphoscoliosis can be effectively
managed by posterior spinal fusion with stable instrumenta-
tion.10,19 The management of vascular and visceral ruptures
is beyond the scope of this text.
Ehlers-Danlos Syndrome
1. Adib N, Davies K, Grahame R, et al: Joint hypermobility syndrome
in childhood. A not so benign multisystem disorder? Rheumatology
(Oxford, England) 44:744, 2005.
2. Akpinar S, Gogus A, Talu U, et al: Surgical management of the
spinal deformity in Ehlers-Danlos syndrome type VI, Eur Spine J
12:135, 2003.
3. Beighton P, De Paepe A, Steinmann B, et al: Ehlers-Danlos
syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos
National Foundation (USA) and Ehlers-Danlos Support Group
(UK), Am J Med Genet 77:31, 1998.
4. Brunk I, Stöver B, Ikonomidou C, et al: Ehlers-Danlos syndrome
type VI with cystic malformations of the meninges in a 7-year-old
girl, Eur J Pediatr 163:214, 2004.
 CHAPTER 41  Orthopaedic-Related Syndromes e533

5. Danlos M: Un cas de cutis laxa avec tumeurs par contusion chro-

niques des coudes et des genoux (xanthome juvenile pseudodiabe-
tique de MM. Hallopeau et Lepinary), Bull Soc Fr Dermatol Symph
70:1908, 1908.
6. Ehlers E: Curtis laxa, Neigung zu Haemorrhagien in der Haut,
Lockerung mehrerer Artikulationen, Dermatol Z 8:173, 1901.
7. Giunta C, Randolph A, Al-Gazali LI, et al: Nevo syndrome is allelic
to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS
VIA), Am J Med Genet A 133:158, 2005.
8. Gurndtner P, Assadian A, et al: History of a patient with Sack-
Barabas syndrome (Ehlers Danlos Type IV)—16 years of recurrent
life-extending open and endovascular surgery, Eur J Vasc Endovasc
Surg 30:112, 2005.
9. Jindal R, Choong A, Arul D, et al: Vascular manifestations of Type
IV Ehlers-Danlos syndrome, Eur J Vasc Endovasc Surg 30:224,
2005.
10. Liu Y, Gao R, Zhou X, et al: Posterior spinal fusion for scoliosis in
Ehlers-Danlos syndrome, kyphoscoliosis type, Orthopedics 34:228,
2011.
11. Natarajan D, Samartzis D, Wong YW, et al: Natural history of
FIGURE 41-54  Gaucher cells, characteristic of Gaucher disease
spinal deformity in a patient with Ehlers-Danlos syndrome: case
(hematoxylin-eosin, ×400).
report with 20-year follow-up, Spine J 11:e1, 2011.
12. Oderich GS, Panneton JM, Bower TC, et al: The spectrum, man-
agement and clinical outcome of Ehlers-Danlos syndrome type IV:
a 30-year experience, J Vasc Surg 42:98, 2005. degrees of clinical involvement.4 Phenotypic variation is
13. Pinnell SR, Krane SM, Kenzora JE, et al: A heritable disorder
caused in part by the extent of the enzyme deficiency,
of connective tissue. Hydroxylysine-deficient collagen disease,
which can range from partial to complete absence of
N Engl J Med 286:1013, 1972.
14. Rohrbach M, Vandersteen A, Yis U, et al: Phenotypic variability β-glucocerebrosidase.
of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): Gaucher disease is the most common lipid storage dis-
clinical, molecular and biochemical delineation, Orphanet J Rare order. It is especially prevalent in the Ashkenazi Jewish
Dis 6:46, 2011. population.100 In a screening study conducted in Israel, the
15. Sacheti A, Szemere J, Bernstein B, et al: Chronic pain is a mani- carrier frequency among those tested was 1 in 17.49
festation of the Ehlers-Danlos syndrome, J Pain Symptom Manage
14:88, 1997.
16. van Meeckeren J: De dilatabilitate extraordianaria cutis. In Obser- Pathology and Diagnosis
vations medicochirugicae, Amsterdam, 1682, Chapter 82.
Glucocerebrosides accumulate in the reticuloendothelial
17. Voermans NC, Knoop H, Bleijenberg G, et al: Pain in Ehlers-
system and sometimes in the CNS. Pale-staining foam cells,
Danlos syndrome is common, severe, and associated with func-
tional impairment, J Pain Symptom Manage 40:370, 2010. known as Gaucher cells, also accumulate (Fig. 41-54). The
18. Wynne-Davies R: Acetabular dysplasia and familial joint laxity: disease may manifest with hepatosplenomegaly, bone
two etiological factors in congenital dislocation of the hip. A review marrow suppression, and bone lesions.
of 589 patients and their families, J Bone Joint Surg Br 52:704, The diagnosis of Gaucher disease is often missed ini-
1970. tially.98 The definitive method of diagnosis is enzyme assay
19. Yang JS, Sponseller PD, Yazici M, et al: Vascular complications of β-glucocerebrosidase activity,21 which demonstrates
from anterior spine surgery in three patients with Ehlers-Danlos reduced acid activity in peripheral blood leukocytes. Geno-
syndrome, Spine (Phila Pa 1976) 34:E153, 2009. typing at the glucocerebrosidase gene locus can provide
additional information and identify carriers. Histologic diag-
nosis of Gaucher disease is not necessary.75
Prenatal diagnosis can be made by enzyme assays of cells
Gaucher Disease obtained from amniocentesis or chorionic villous sampling,
as well as by DNA analysis for known mutations.109
Genetics and Heredity
Gaucher disease is an autosomal recessive, inborn distur-
Clinical Features
bance of lipid metabolism characterized by a deficiency in
the enzyme β-glucocerebrosidase, which cleaves glucosyl­ Brady and Barranger identified three distinct forms of
ceramide.19 Molecular genetic research has localized the Gaucher disease.18 In all three forms, the bone marrow is
glucocerebrosidase gene to 1q21,23 and almost 200 different infiltrated, causing anemia, leukopenia, and thrombocyto-
mutations in this gene that produce Gaucher disease have penia. These aberrations manifest clinically as fatigue,
been described. There is variable correlation between the bleeding tendencies, and recurrent infections. Enlargement
specific genotype and phenotypic expression in patients of the spleen results in abdominal protuberance. Enlarged
with Gaucher disease.‡b lymph nodes are palpable.
In 10 of 24 Gaucher disease families, siblings who
carry the same mutations were found to have varying Type 1
Type 1 Gaucher disease is also referred to as the chronic,
‡b
References 14, 15, 50, 54, 76, 97, 102. nonneuropathic form or adult form, although it usually
e534 SECTION VII  Other Orthopaedic Disorders

becomes evident during childhood.108 It is the most common

clinical form, representing 95% of cases, and it manifests
within the first 2 decades of life. Disease severity is
extremely variable, with a tendency for increasing severity
in children. Splenomegaly, enlargement of lymph nodes,
bone lesions, and skin pigmentation abnormalities are
present. The CNS is not involved.
Type 2
Type 2 disease is the acute infantile neuropathic form. This
type is very rare, appears in infancy, and involves primarily
the CNS. The disease is fatal within 18 months of onset.
There is extensive, progressive brainstem destruction caused
by the accumulation of glucosylsphingosine. The most fre-
quent presenting signs of type 2 Gaucher disease are hyper-
extension of the neck, swallowing abnormalities, and
strabismus.72 Pulmonary involvement, hepatosplenomegaly,
pancytopenia, and failure to thrive are not specific to type
2 disease but are also present. Bony involvement is not
significant.
A new subset of type 2 Gaucher disease has been
described. This perinatal form of the disease is lethal in the
newborn period.28 It is characterized by hydrops fetalis—an
excessive accumulation of serous fluid in the subcutaneous
tissues and serous cavities of the fetus99—and severe, pro-
gressive neurologic involvement. Associated findings include
hepatosplenomegaly, ichthyosis, arthrogryposis, and abnor- FIGURE 41-55  Erlenmeyer flask deformity of the femur in Gaucher
mal facies.73 Because of the lethality of the disease, bone disease.
involvement is insignificant.
Type 3
Type 3 is the subacute neuropathic or juvenile form of Avascular Necrosis
Gaucher disease. It has the features of the chronic form, Avascular necrosis is caused by interruption of the micro-
along with CNS involvement. The disease manifests during vasculature by the expanding mass of Gaucher cells. AVN
childhood, with slowly progressive neural dysfunction, gait of the femoral head is common, occurring in up to 75% of
abnormality, seizures, and mental retardation. patients in a series reported by Amstutz and Carey (Fig.
41-56).5,6 It is usually bilateral. There may be segmental
involvement, or the total head may be affected. The joint
Orthopaedic Manifestations
space may become narrowed, with resultant osteoarthri-
The orthopaedic problems that develop in types 1 and 3 tis.101 The humeral head is also frequently involved.30
disease vary among patients.29 There are six different bony Patients who have had splenectomies are at higher risk for
manifestations of Gaucher disease—bone marrow infiltra- AVN.91 Marrow changes consistent with AVN can be easily
tion, avascular necrosis (AVN), bone crises, pathologic frac- seen by MRI.40,93 Histologic examination of avascular
tures, lytic lesions, and osteomyelitis. femoral heads shows sheets of Gaucher cells and fibrous
tissue filling the marrow spaces.
Bone Marrow Infiltration Although AVN is typically thought to affect the epiphy-
The bone marrow is infiltrated by Gaucher cells, ses of the proximal femur, knee, and proximal humerus,
which multiply and replace the hematopoietic cells. The there is a variant of osteonecrosis seen in patients with
metaphysis and diaphysis expand, and the adjacent cortex Gaucher disease that affects the medullary canal of the long
becomes thinned, creating the appearance of an Erlen- bones. Bone infarcts occur, resulting in the death of the
meyer flask on radiographs (Fig. 41-55).63,107 The distal osseous elements and marrow containing the Gaucher cells.
femur is most commonly involved, followed in frequency Damage to these cells results in the deposition of calcium
by the proximal tibia.52 The expansion and erosion of in the bone. Although there is a radiographic appearance
the cortices can produce chronic bone pain. MRI of the of increased density, the bone is not mechanically
peripheral and axial skeleton and specialized bone scans strengthened.69
can quantify the extent of replacement of normal bone
marrow with Gaucher cells.67,70 The MRI appearance of Bone Crises
the bone marrow in Gaucher’s patients is characterized Bone crises resembling those seen in patients with sickle
by an abnormally low signal intensity on conventional cell anemia may occur. They manifest as acute episodes of
T1- and T2-weighted spin echo sequences because of a severe limb pain with localized tenderness, warmth, redness,
reduction in fatty marrow, which normally has high signal inability to use the limb, fever, and leukocytosis. In short,
intensity.66 they resemble infection.12 Bone crises occur most

A B
FIGURE 41-56  A and B, Early avascular necrosis in a 6-year-old girl presenting with pain in both lower extremities. Gaucher disease was
diagnosed based on expansion of the distal femora (as seen in Fig. 41-55) and simultaneous avascular necrosis of the femoral heads. The
diagnosis was confirmed by enzyme assay.
commonly in the lower extremity, but one third of patients
with bone pain present with symptoms in the upper
extremities.57 Radiographs show periosteal new bone forma-
tion and mottled rarefaction of the involved bone.
Technetium bone scans may be helpful in differentiating
between bone crisis and osteomyelitis. A cold scan supports
the diagnosis of bone crisis, because osteomyelitis usually
produces increased uptake.25,58 Similarly, gallium scanning
shows decreased uptake in Gaucher disease and increased
uptake in osteomyelitis.74 Subperiosteal edema has been
seen in patients with Gaucher disease during bone crises.22
Lipophilic tracer scans have been used in a few cases to
differentiate bone pain caused by Gaucher disease from
infection.62 Bell and associates recommended blood cul-
tures, technetium bone scans, and CT for all patients with
Gaucher disease suspected of having bone crises or osteo-
myelitis.12 When aspiration of the bone is necessary, it
should be carried out under aseptic conditions to prevent
secondary infection.
The course of bone crises in Gaucher disease is self-
limiting, and the pain gradually subsides within days or
weeks. The pathophysiology of the crisis is presumed to be
vaso-occlusive. The Gaucher cells mechanically block the
circulation, leading to a marked elevation in intramedullary
pressure. One study, supported by MRI findings of signal
change within the bone and subperiosteal fluid collections,
proposed that subacute hemorrhage caused by coagulopathy
leads to bone crises.48 The issue remains unsettled.
Pathologic Fractures
Osteopenia and AVN predispose to pathologic fracture in
Gaucher disease.83,101 The sites most frequently involved are
the proximal femur and the spine.37 In pediatric patients,
the fractures heal with conservative treatment, although
there is a tendency for fractures of the proximal femur to
heal in varus alignment.38 Fracture healing may be pro-
longed, even in children.55 Kyphosis may result from verte-
bral compression fractures, and cord and root impingement
have been described in rare cases.42,59,60,81,95 Usually, more
than one vertebra is involved.
CHAPTER 41  Orthopaedic-Related Syndromes e535
Lytic Lesions
The presence of bubbly, expansile lytic lesions in the long
bones is caused by marked aggregates of Gaucher cells.80
Occasionally, the masses of Gaucher cells protrude from the
bone into the soft tissue and mimic malignancy.41,86 Tumor
formation may occur in Gaucher disease, but is rare.85,104
Osteomyelitis
Osteomyelitis is a serious problem in Gaucher disease.79
The ischemic bone is inherently susceptible to infection,
and when osteomyelitis does occur, the lack of vascular
supply to the bone makes antibiotic treatment difficult.12
Patients with Gaucher disease are prone to infection with
anaerobic organisms not commonly seen in osteomyelitis.34
Technetium bone scans may show increased uptake, and
gallium scanning can help make the correct diagnosis.84 Sur-
gical treatment is often contraindicated in Gaucher disease
because the result is often chronic osteomyelitis.
Treatment
Significant advances have been made in the treatments
available to patients with Gaucher disease.
Splenectomy
Splenectomy had long been used for patients with hyper-
splenism and thrombocytopenia, but unfortunately, sple-
nectomy leaves patients at increased risk for infection.35
Splenectomy also shifts the deposition of Gaucher cells
from the spleen to the bone marrow, resulting in a greater
risk of AVN, fractures, and bone crises.51,69 For these
reasons, partial splenectomy came into favor, but follow-up
studies showed regrowth of the remnant spleen and the
reappearance of splenomegaly.9,44,78,111
Enzyme Replacement Therapy
Enzyme replacement therapy became possible in 1991 and
is currently advocated as the treatment of choice for chil-
dren with type 1 Gaucher disease.77,108 Placental human
e536 SECTION VII  Other Orthopaedic Disorders
glucocerebrosidase (alglucerase) and recombinant glucocer-
ebrosidase (imiglucerase [Cerezyme]) are the two enzymes
used.11 The indications for treatment are splenomegaly,
growth failure, and bony, hematologic, and pulmonary
complications. Recommendations have been proposed for
enzyme replacement therapy in all children with any signs
or symptoms of type 1 Gaucher disease.8 Improvement in
hepatosplenomegaly, anemia, and thrombocytopenia is
usually apparent within 6 months. Studies of children with
type 1 Gaucher disease who received enzyme replacement
therapy showed a reduction in the size of the liver and spleen
on abdominal ultrasonography and a significant increase in
height because of more normal skeletal growth.27,84
The bone involvement associated with Gaucher disease
responds more slowly.16 Partial restoration of vertebral body
height has been described in pediatric patients.43 Improve-
ment in lumbar bone mineral density has also been docu-
mented in children receiving enzyme replacement therapy.13
Bone biopsy has shown the disappearance of Gaucher cells
from the marrow and shrinkage of those cells that persist.94
Painful bone crises are almost eliminated by enzyme
replacement.71,94
Quality of life studies were performed in a group of 16
untreated and treated patients with Gaucher disease,
including children and adults. Before treatment, patients
stated that bone pain and fatigue interfered with school and
social activities. Following enzyme replacement therapy,
most experienced a significant increase in energy level and
quality of life.39
Enzyme therapy is extremely expensive. A 1998 Cana-
dian study reported that the cost of enzyme therapy was
about $21,000/infusion for adults at the starting dose rec-
ommended by the manufacturer.68 Studies have been
undertaken to determine the absolute minimum amount
of enzyme necessary to control the disease.14,33,45,110,113
Response to therapy must be measured, and protocols for
monitoring enzyme replacement therapy have been out-
lined.21 The enzyme chitotriosidase is produced and secreted
by Gaucher cells and is elevated 1000-fold (on average) in
untreated patients. Changes in plasma chitotriosidase levels
reflect the burden on storage cells, thereby serving as a
measure of treatment efficacy.1 The use of chitotriosidase
levels to monitor response to treatment has been validated
in children with Gaucher disease.103 Current recommenda-
tions call for the monitoring of hemoglobin, platelet count,
and chitotriosidase level every 3 months at the beginning of
therapy, and yearly thereafter.8 MRI has been useful in fol-
lowing the restoration of more normal bone marrow in
patients on enzyme therapy.2,40,66,88 Although conversion to
more normal bone marrow does occur, bone infarcts remain
unchanged on MRI scans, despite enzyme treatment.87
Adjustments in enzyme therapy are based on the results of
regular monitoring of clinical involvement.7
Miglustat is a substrate synthesis inhibitor and has been
studied as an oral treatment for adults with type 1 Gaucher
disease. It is recommended for patients with mild to moder-
ate clinical manifestations and for those who cannot receive
IV enzyme replacement therapy. Decreases in liver and
spleen volume, as well as increases in platelet counts, have
been seen, but no change in bone involvement has been docu-
mented with this drug.82 Response to treatment is slower
with oral miglustat than with IV enzyme replacement.105
The neurologic abnormalities seen in type 2 Gaucher
disease are not reversed with enzyme treatment, because
the enzyme cannot cross the blood-brain barrier.31 Those
with type 2 disease still die in infancy, despite enzyme
replacement.17,32,89 Newer therapies using pharmacologic
chaperones offer some hope. These small molecules are
capable of penetrating the blood-brain barrier and enhanc-
ing the function of the mutant enzyme.24
The response to enzyme replacement in patients with
type 3 Gaucher disease has been investigated. Similar to
type 1 disease, significant improvement in hematologic
parameters, hepatosplenomegaly, and bone involvement
were seen. Neurologic deterioration occurred despite treat-
ment in 8 of 21 patients.3 There have been rare cases of
neurologic improvement in patients with type 3 disease.112
Bone Marrow and Stem Cell Transplantation
Bone marrow transplantation has been successful in the
treatment of Gaucher disease.20,47 Plasma levels of gluco-
cerebroside return to normal, but the Gaucher cells persist
for a long time.90 Because of the risks of overwhelming
infection, bone marrow transplantation is not the primary
form of treatment for Gaucher disease.14
Stem cell transplantation has also been used as treatment
for small numbers of children with types 2 and 3 Gaucher
disease whose neurologic involvement was not treatable by
enzyme replacement therapy. Early diagnosis is mandatory
in these cases.61
Gene Therapy
Molecular genetic research has led to the development of
gene therapy for the treatment of Gaucher disease.26 Trans-
fer of the gene that codes for glucocerebrosidase via an
adenoviral vector to hematopoietic progenitors has been
successful in mice.46 Preliminary results of this technique in
human patients with Gaucher disease indicate the persis-
tence of genetically corrected cells.10
Orthopaedic Treatment
Orthopaedic treatment is required for the management of
pathologic fractures. In children, treatment should be con-
servative, because operative intervention carries the risk of
the development of chronic osteomyelitis. Fracture fre-
quency and bone crises were reduced in one study of
patients treated with bisphosphonates.96 Other, more recent
studies showed that the incidence of painful bone crises was
markedly reduced in patients receiving enzyme replacement
therapy.71,94 Among 51 patients who had pretreatment bone
crises, 94% had no crises following the initiation of enzyme
replacement treatment at 2- to 5-year follow-up.106 One
theory is that because thrombocytopenia improves with
enzyme replacement, there are fewer hemorrhagic insults
to the bone and less risk of subperiosteal hemorrhage,
leading to the decreased incidence of bone crises.52
Vertebral involvement necessitates treatment in rare
cases. Progressive kyphosis can lead to cord impingement
and myelopathy. Bracing has been advocated for pediatric
patients with progressive kyphosis and remaining growth.
Combined anterior and posterior spinal fusion has been
performed in severe cases. When there is cord compromise
and neurologic deficit, anterior decompression combined
with anterior and posterior spinal fusion is required. Gentle

deformity correction with multiple anchor sites is required
owing to the preexisting osteopenia.60
AVN of the femoral head may be painful in children with
Gaucher disease. Symptomatic management of osteonecro-
sis of the femoral head includes bed rest and analgesics,
followed by non–weight bearing on the involved limb if it
makes the patient more comfortable. On follow-up, most
children remain asymptomatic for several years.56 Surgery
has no role in the prevention or early treatment of AVN in
Gaucher disease.
Severe osteoarthritis of the hip caused by AVN is treated
by total hip arthroplasty.64,65 In a study with a 14-year
follow-up, it was concluded that most arthroplasties per-
formed in patients with Gaucher disease resulted in
increased mobility and resolution of pain.37 Total shoulder
arthroplasty has similarly been successful in treating osteo-
arthritis associated with Gaucher disease.101 Redirectional
osteotomy of the femur was described in a case of segmen-
tal AVN.53
In the rare situation in which orthopaedic surgery is
performed on a patient with Gaucher disease, it is impera-
tive that the surgeon and anesthesiologist be aware of the
tendency for coagulopathy in these patients. Thrombocyto-
penia is usual, caused by bone marrow infiltration, but the
platelets that do exist may also have functional abnormali-
ties.36 Enzyme replacement therapy should be given, often
with an increase in dose before elective surgery, in an
attempt to improve thrombocytopenia. Perioperative anti-
biotics directed against gram-positive organisms should be
provided.69
Prognosis
Patients with type 1 Gaucher disease generally survive into
adulthood. The impact of long-term enzyme replacement
therapy throughout the life span is unknown. There is a
predisposition to multiple myeloma during adulthood.92
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CHAPTER 41  Orthopaedic-Related Syndromes e539
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Arthrogryposis (Arthrogryposis
Multiplex Congenita)
The term arthrogryposis is used for a variety of conditions
that have in common diminished fetal movements, with
congenital joint stiffness and varying degrees of muscle
weakness. The disorder should be considered a symptom
complex rather than a disease, and a definitive diagnosis
should be sought. Specific syndromes with the features of
arthrogryposis have different prognoses and inheritance pat-
terns, and knowledge of these patterns allows accurate
patient counseling.
The most common type of arthrogryposis is amyoplasia
or classic arthrogryposis; the descriptions that follow refer
to this form of the disorder. Distal arthrogryposis is char-
acterized by restricted motion of the distal joints of the
hands and feet and sometimes the knees and has been
classified into six types. Contractural arachnodactyly (Beals
syndrome), Freeman-Sheldon syndrome, and multiple
pterygium (Escobar) syndrome have been mistaken for
arthrogryposis.31
Arthrogryposis is a rare disorder that occurs in about 1
in 3000 live births; true amyoplasia occurs in about 1 in
10,000 live births.31,60 The disorder was first described in
1841 by Otto.46 Schanz later termed the condition multiple
congenital contractures,57 and Rosencranz coined the term
arthrogryposis.54 In 1923, Stern proposed the term arthro-
gryposis multiplex congenita, which is used today.64
The clinical picture at birth is often one of dramatic
deformities and immobility (Fig. 41-57). Parents need
extensive counseling to convince them that despite the
obvious musculoskeletal abnormalities, most affected indi-
viduals are able to lead productive functional lives, even
with incomplete correction or nontreatment of many of the
deformities, including those in the upper extremity.58,61,74
e540 SECTION VII  Other Orthopaedic Disorders

A B
FIGURE 41-57  Twins with arthrogryposis. A, At birth, the characteristic deformities were present. The shoulder muscles were atrophic, the
shoulders adducted, the elbows extended, and the wrists flexed. In the lower extremities, the knees were both flexed and extended, and
there were equinovarus deformities of the feet. B, The same boys at age 16 years. Lower extremity surgery was relatively successful. The
upper extremities remained in their original positions, and more aggressive upper extremity surgery may have been beneficial. However,
both boys played on their high school football team.

Cause
The clinical findings of arthrogryposis result from fetal
akinesia—fibrosis of joints and lack of creases, thin atrophic
extremities, and fatty accumulations about the joints. This
lack of motion is most often caused by failure of skeletal
muscle development, which may result from abnormalities
at the anterior horn cell or more proximally or distally in
the nervous system. Associated muscle diseases include
congenital muscular dystrophies, congenital myopathies,
intrauterine myositis, and mitochondrial disorders.8 The
syndrome has been associated with gastroschisis, intestinal
atresia, Poland sequence, and Möbius’ anomaly, all of which
have a vascular interruption component, suggesting that
arthrogryposis may also have a vascular cause.53
Amyoplasia may be caused by defective myogenic regula-
tory genes. The effect appears as a defective somite because
of lack of induction by the notochord and neural tube. The
muscle matrix, derived from lateral mesoderm, is present,
but myocytes, which are derived from somitic mesoderm,
are absent and have been replaced by adipose cells.55
Several cases have been reported in which mothers with
myasthenia gravis have passed antibodies to the fetus that
inhibit the function of the fetal acetylcholine receptor. The
result is an autoimmune form of fetal paralysis.50 These
mothers are likely to have other affected children.51
A number of animal studies have demonstrated the
basic pathologic mechanism of the disease. Chick embryos
treated with curare for 2 days are born with ankylosis of
the joints, similar to that in human arthrogryposis.20 Fetal
joints that were immobilized had similar findings.28 One
case of arthrogryposis has been described in an infant born
to a mother who was treated with muscle relaxants for
tetanus at 10 to 12 weeks’ gestation.36 Rat fetuses treated
with curare had multiple joint contractures, pulmonary
hypoplasia, micrognathia, fetal growth retardation, short
umbilical cord, and polyhydramnios, termed the fetal aki-
nesia deformation sequence.40 These findings in humans have
been termed Pena-Shokeir syndrome.48,49
Joint contractures have been produced experimentally
by infecting chick embryos with Newcastle disease and
coxsackievirus.52 Akabane virus may cause similar joint con-
tractures in cattle.65 Thus an infectious viral cause, likening
arthrogryposis to a poliomyelitis infection in utero, remains
plausible.
Genetics
Several genetic patterns have been recognized in arthrogry-
posis, but most cases of the amyoplasia type are sporadic,
without an inheritance risk. Autosomal dominant transmis-
sion has been noted, especially in type I distal arthrogrypo-
sis. Autosomal recessive inheritance has also been noted, as
well as X-linked recessive inheritance.31 Rare cases of mito-
chondrial inheritance have also been reported.
 CHAPTER 41  Orthopaedic-Related Syndromes e541

Pathology
The pathophysiology of arthrogryposis begins with failure
of fetal movement, usually caused by failure of develop-
ment of the anterior horn cells at the spinal level (the
neuropathic form). Consequently, the spinal cord is smaller
than normal, especially at the cervical and lumbar levels.
Anterior horn cells are diminished in number but otherwise
normal in appearance. The ventral roots are decreased in
number, whereas the dorsal roots are normal. Occasionally,
there are abnormalities in the brain, with reduced Betz cells
in the motor cortex and incomplete fissuring with large
lateral ventricles.19,22,25,38
The pathology of the articular joints indicates normal
embryologic development, with subsequent failure of move-
ment. Thus articular cartilage is well formed, and joint
spaces are present. The joint capsules are thickened and
fibrotic; joint creases are absent; skin and subcutaneous
tissues are adherent to bone, producing dimples near joints;
bursal areas are poorly formed, especially about the knee;
tendons are often fibrosed to their sheaths; and muscles are
thin, atrophic, and at times infiltrated with fat.
In the myopathic form, the brain, spinal cord, anterior
horn cells, and nerve rootlets are normal.1,24,38 The affected
muscles are firm, pale, and fibrous, with fibrous and fatty
degeneration. Individual muscle fibers are varied, with hap- FIGURE 41-58  This newborn with arthrogryposis has flexed
hazard distribution of large and small fibers. Endomesial elbows, a typical wrist and hand position, flexed knees, and severe
connective tissue is increased. Muscle biopsy may distin- equinovarus feet.
guish the neuropathic and myopathic types. In one study,
93% of children had the neuropathic type but only 7% had
the myopathic form.9 difference between the active and passive ranges of motion,
Over time, articular degenerative changes occur second- with passive flexion to 90 degrees a common finding. The
arily, with loss of articular cartilage and eventual spontane- wrists and fingers generally have marked reduction of
ous arthrodesis in some joints. motion, and the fingers often exhibit ulnar deviation with
flexion contractures. The thumb may have little opposition,
Clinical Features and grasping is done between the fingers. The pathogno-
monic posture—the waiter’s tip posture—is one of shoulder
Classic Arthrogryposis adduction and internal rotation, elbow extension, forearm
Classic arthrogryposis, or amyoplasia, presents with well- pronation, and wrist flexion.
recognized musculoskeletal abnormalities. These bright- In the lower extremities, hip motion is frequently pre-
eyed, intelligent children always have contractures of served, especially in flexion and extension. The knees may
the extremities and usually have a midline cutaneous hem- be stiff in flexion or extension, and the available range is
angioma on the forehead. The most frequent posture is that often hingelike rather than a gliding motion. The feet are
of elbow extension, wrist flexion and ulnar deviation, knee usually stiff in whatever position they assume. Some chil-
extension or flexion, and equinovarus foot deformities (see dren develop scoliosis, usually a neuropathic C curve with
Fig. 41-57). The arms and legs are thin and atrophic, and pelvic obliquity (Fig. 41-59).
the joints lack flexion creases. Accumulations of fat in the
extremities often give the limbs a sausage-like appearance. Distal Arthrogryposis
In some cases, the elbows are flexed (Fig. 41-58), and the Distal arthrogryposis syndromes involve the more periph-
feet may have pure equinus or vertical talus deformities. eral joints. Type I is associated with specific findings in
Typically, all four extremities are involved; occasionally, the hands, including medially overlapping fingers, flexed,
involvement is limited to the lower or upper extremities. adducted thumb, clinched fists, ulnar deviation of the
Prenatal diagnosis has been made as early as 19 weeks’ gesta- fingers, and camptodactyly (Fig. 41-60). Talipes equinovarus
tion, based on absent fetal movement and characteristic and vertical talus are found in the lower extremities.5,6,39 It
contractures.59 Breech position is common and is probably is transmitted as an autosomal dominant trait, with the gene
because of the inability of the fetus to kick strongly enough located on chromosome 9.7,31 A variant with craniofacial
to turn to a vertex position.56 Many are delivered by cesarean abnormalities has also been reported.41
section, and birth fractures are not uncommon. Type IIa distal arthrogryposis is accompanied by cleft
Active and passive joint motion is usually markedly palate and short stature. Type IIb, a mitochondrial disorder,
limited, but affected joints usually retain at least a jog has ptosis, ophthalmoplegia, hard and woody muscles, and
of motion. Head and neck motion is generally normal. absent palmar creases, along with distal contractures. Father
Shoulder motion is variably limited, with flexion usually to son and mother to son transmission have been reported
preserved. At the elbow, there may be considerable in this type.26,29 Type IIc has cleft lip and palate, type IId
e542 SECTION VII  Other Orthopaedic Disorders

A B

C D
FIGURE 41-59  A and B, A 12-year-old girl with neuropathic lordotic scoliosis. Definitive treatment was delayed because of concern that
her ambulatory status would be negatively affected by spinal fusion. C and D, Radiographs showing pelvic obliquity even though the
patient continued to be ambulatory.

has scoliosis, and type IIe has trismus and an unusual con-
tracture of the hand, with wrist flexion and metacarpopha-
langeal joint extension.31
Differential Diagnosis
Some authors have indicated that as many as 150 different
syndromes have features in common with arthrogryposis.30
For example, craniocarpotarsal dysplasia (Freeman-Sheldon
or whistling face syndrome; see later), manifests as a limited
extension of multiple joints and characteristic puck-
ered facial appearance, giving rise to the whistling face
designation.
Multiple pterygium (Escobar) syndrome resembles
arthrogryposis due to the presence of joint contractures, but
the knee and elbow contracture are often extreme, with

A B
FIGURE 41-60  A and B, Distal arthrogryposis. Thumb flexion and opposition and ulnar deviation of digits are fixed.
winglike webbing on the flexor surface. Pterygia involving
the neck are common, helping distinguish this syndrome
from classic arthrogryposis. The severe kyphoscoliosis seen
in Escobar patients is uncommon in those with arthrogry-
posis, who usually present with more typical lordoscoliosis
(see Fig. 41-59) involving the thoracolumbar spine.75
Individuals with congenital contractural arachnodactyly
(Beals syndrome) have long gracile extremities, similar to
those seen in Marfan syndrome, but also have contractures
of the fingers and toes and mild loss of extension of other
joints.
Some dwarfing syndromes, such as diastrophic dysplasia,
involve restricted joint motion but are distinguished by
other characteristic features, especially limb shortening.
Treatment
The treatment of arthrogryposis must be based on a thor-
ough understanding of this unique disorder. There are a
number of different factors to consider in this regard.
First, these children are quite intelligent and sensitive to
pain. Vigorous stretching of their stiff joints is counterpro-
ductive for improving range of motion and establishing
patient rapport.
Second, the complex unit of the gliding joint did not
form normally because the fetus failed to move. For
example, the knee cannot move normally because the
muscles, prepatellar bursa, and suprapatellar pouch failed
to develop, the skin and subcutaneous tissue envelope
developed as a cylinder, without normal creases and lacking
the normal excess skin anteriorly, which allows motion,
and the joint capsule is thick, fibrotic, and too small to
allow the femoral condyles to move back and forth. Thus
the surgeon must recognize that simple solutions, such as
capsular release or joint surface replacement, cannot create
the complex anatomy necessary for a freely mobile joint.
Third, this disorder is variable. At one extreme are chil-
dren with involvement limited to the feet and calves or
CHAPTER 41  Orthopaedic-Related Syndromes e543
elbows and wrists; at the other extreme are children who
have active motion of only the head and neck (fortunately,
this is rare). Although the following discussion applies to
typical, fairly severe cases, many variations are encountered
in practice, and treatment must be tailored to the
individual.
In most patients, the two major goals of treatment are
independent ambulation and independent function of the
upper extremities for activities of daily living. The Pediatric
Outcomes Data Collection Instrument (PODCI) is a useful
tool for evaluating function in these children.2 In one
follow-up study of 53 patients, 73% were able to ambulate
independently or with occasional aids.62 To achieve these
goals, it is necessary to do the following:
1. Correct the alignment of the lower extremities so that
plantigrade standing and walking are possible.
2. Preserve existing joint motion and put that motion in the
most functional location.
3. Increase active motion where appropriate tendon-muscle
transfers are possible.
4. Reposition stiff joints for functional advantage.
At times, the surgeon and parents face the dilemma of
choosing stiff deformities that are compatible with a sitting
or standing position, because the limited range of motion
will not allow both. In such cases, there is no right decision.
Some severely involved persons prefer the many advantages
of the sitting position for wheelchair mobility, driving, and
working. Others deal with life in a standing position despite
the obvious difficulties it poses.
A well-planned treatment program should seek to
accomplish as much functional improvement in as few
operative procedures as possible, preferably finishing by
age 6 years. With the typical involvement of all four extrem-
ities, early stretching and cast correction may be useful for
the contractures, but this is rarely effective for elbow, wrist,
and knee contractures. Surgical correction of the knees
usually precedes hip surgery, and a decision should be made
e544 SECTION VII  Other Orthopaedic Disorders

A B

C D
FIGURE 41-61  A, A 5-month-old boy with a congenitally dislocated right hip and limited motion. He also had bilateral clubfeet. B, One
year after medial open reduction of the right hip. The left hip was thought to be subluxated anteriorly in extension but was simply
observed at this time. C and D, At age 4 years 6 months, the right hip remained subluxated but reduced, with abduction and internal
rotation. Salter osteotomy was performed.

about correction of flexion contractures by age 6 months,
if possible. Hip reduction may be performed between 6 and
12 months of age. Hands and feet are often corrected in
the same operative procedure at an early standing age. I
have found a higher rate of recurrence of foot deformity if
foot surgery is performed before weight bearing begins. Late
corrective osteotomies, scoliosis surgery, and osteotomies or
fusions of the foot or ankle may be necessary as late as the
teenage years.
Hips
Hip Dislocation
In recent years, it has become clear that the reduction of
dislocated hips in arthrogryposis is advantageous for func-
tion and is not as difficult as previously thought. I
recommend early reduction of unilateral and bilateral hip
dislocation in most cases (Fig. 41-61). Most patients with
dislocated hips have some active flexion or extension of the
hip and a range of passive motion of 60 to 90 degrees. If
flexion or extension is markedly limited, hip reduction may
not be appropriate. If the child demonstrates little active
hip movement and ambulation is clearly not likely, hip
reduction is unnecessary (Fig. 41-62), and positioning for
sitting is appropriate.
Closed reduction is uniformly unsuccessful in children
with arthrogryposis. I prefer to perform a medial open
reduction at about 6 months of age. Both hips are done in
the same procedure, if necessary. My experience has mir-
rored that of Szoke and colleagues in that satisfactory
results are the rule rather than the exception. In their series,
80% of 40 treated hip dislocations had good outcomes.66

A B
The procedure is described in Chapter 16. Postoperative
immobilization is limited to 6 weeks in a cast in the human
position. Further splinting is usually unnecessary and may
promote stiffness. Femoral shortening should be added if
the reduction is too tight.
In an older child, the hip is reduced with an anterior
approach and femoral shortening. Successful anterior open
reduction has been reported in children as old as 4 years,3
although stiffness may be a significant problem later. Ace-
tabular dysplasia is treated with an appropriate pelvic oste-
otomy, usually a Salter or Dega procedure (see Fig. 41-61,
C and D). A 20-year follow-up of 19 patients undergoing
bilateral hip surgery reported that community ambulation
was maintained in 13, with no patients suffering significant
painful sequelae.66 Thus the trend to reduce arthrogrypotic
hips aggressively at an early age appears to be valid in terms
of maintaining painless function.
Hip Contractures
Hip abduction and adduction contractures are occasionally
encountered, and the resultant pelvic obliquity may con-
tribute to the development of scoliosis. Minor contractures
are treated with appropriate soft tissue releases. Con-
tracture of the iliotibial band produces a hip flexion, abduc-
tion, and external rotation contracture. Proximal and distal
iliotibial band release (Ober-Yount procedure) may resolve
the contracture. Osteotomies may be required for severe
contractures.
Fixed extension contracture of the hip is a rare but chal-
lenging deformity. Soft tissue releases may be considered,
but if they are followed by hip flexion deformity, ambula-
tory function may be lost. In addition, flexion after release
of the hip extensors and hip capsule may still be limited by
sciatic nerve tension. A shortening osteotomy may be the
only alternative in this situation.
CHAPTER 41  Orthopaedic-Related Syndromes e545
FIGURE 41-62  A, A 2-year-old girl with
severe arthrogryposis. No lower extremity
function was observed, and the left hip
dislocation was not treated. Note the
sequelae of pathologic fractures in both
femora. Thoracic insufficiency became
apparent in infancy, necessitating
tracheostomy and periodic home
ventilator support. B, Expansion
thoracoplasty with a vertical expandable
prosthetic titanium rib has stabilized the
patient’s ventilator dependency. Her
upper extremity function has improved,
and she required only bilevel positive
airway pressure (BPAP) at night via the
tracheostomy.
Knees
There is considerable variation in the knee deformities at
birth. Flexion contractures are most frequent, but extension
contractures, hyperextension, and varus and valgus deformi-
ties are also seen.
Knee Hyperextension and Dislocation
Hyperextended knees may respond to stretching and casting
or other nonoperative techniques, which should be initiated
in the early neonatal period.44 Details of such treatment are
discussed in Chapter 21 and elsewhere.37 Completely dis-
located grades 2 and 3 knees are unlikely to respond because
of the severe fibrosis usually seen in the quadriceps. If knee
flexion or reduction of the anteriorly dislocated tibia is not
achieved, a decision about surgical correction can be made
once the ambulatory potential and overall quadriceps func-
tion have been determined, usually between 6 and 12
months of age.37 The position of the patella is difficult to
determine on physical examination, and it is often tightly
contracted in a superolateral position above the patellar
groove. 11
To correct extension deformity, an anterior release of the
knee capsule and patella is performed through an antero-
medial longitudinal incision. The quadriceps is lengthened
in a V-Y plasty through the central tendon of the quadriceps.
Alternatively, the femur may be shortened 2 to 3 cm at
midshaft and plated to reduce the need for quadriceps
lengthening.37 Operative methods are detailed in Chapter
21. At the conclusion of the procedure, the knee should
flex to 90 degrees. Postoperatively, the knee is splinted in
flexion. The amount of flexion is determined while the
surgeon inspects the blood flow to the prepatellar skin after
tourniquet release. Because the normal redundant anterior
skin is not present in this condition, the skin will slough if
the knee is splinted in so much flexion that the cutaneous
e546 SECTION VII  Other Orthopaedic Disorders
blood flow is compromised. Early passive range-of-motion
exercises are important and should start 2 to 3 weeks post-
operatively. Splinting in flexion should be continued for 3
months.
The results of quadricepsplasty in arthrogryposis are
rarely reported; flexion deformities predominate in most
reports, and the need to treat extension deformities is
unclear.44,62,67 Ideally, the goals of treatment would be to
obtain a functional range of flexion (>60 degrees) without
sacrificing quadriceps strength and to provide a knee with
stable periarticular supporting structures. Often, these goals
are not realistic because the arthrogrypotic quadriceps is
congenitally weak and fibrotic. Thus, as noted, a decision
must be made whether knees that are fixed in extension or
hyperextension and are suitable for standing unaided should
be mobilized for flexion at the risk of permanently weaken-
ing the quadriceps and committing to a knee-ankle-foot
orthosis to remain ambulatory.
Fucs and co-workers reported satisfactory results in 8 of
11 knees undergoing quadricepsplasty between 18 months
and 4 years of age.27 None of the knees were dislocated
pretreatment. All knees underwent vigorous physical
therapy and serial casting postoperatively, with long-term
splinting. A satisfactory result required an active quadriceps
that did not require a knee-ankle-foot orthosis, as well as a
congruent joint. Seven of eight patients were community
ambulators at 11 years’ follow-up. The patients all seemed
to improve their ambulatory status by increasing knee
flexion, even if they still required orthoses for ambulation.
Long-term studies have shown a significant rate of degen-
erative changes in the knees of adults, especially those with
extension deformities.58 This may be secondary to persis-
tent subluxation in extension and limited articular surface
congruency. It appears that some flexion is beneficial to
ambulatory patients to avoid such degenerative changes.
However, balancing the amount of flexion with the mainte-
nance of quadriceps strength continues to be a challenge,
further indicating that femoral shortening with minimal
quadriceps dissection can provide similar joint movement
without the risk of muscle weakening.37
Knee Flexion Contractures
The flexed knee is the deformity that most often limits
functional ambulation (Fig. 41-63). It is very resistant to
passive stretching and is difficult to correct surgically.37,44
The severity of the flexion deformity may vary from moder-
ate (45 degrees), with relatively normal popliteal tissues, to
a severe pterygium (≥90 degrees).
Excessive manipulation may result in fractures or epiph-
yseal separations at the distal femur or proximal tibia.61
Recurrent deformity is common, especially if hamstring
power is unopposed by the quadriceps. Thus the decision
whether to operate to correct knee flexion contracture must
include a consideration of the ambulatory potential and,
specifically, of quadriceps function. A patient with signifi-
cant knee flexion deformity has no chance of walking
without correction, but if there is no quadriceps function,
the deformity is doomed to recur, even with the most
aggressive postoperative bracing program.
An evaluation of 42 knee flexion contractures in 29
arthrogrypotic patients treated with posterior surgical
releases at my institution (mean follow-up, 11.4 years)
confirmed that the initial gains in extension were not main-
tained at later follow-up.34 Yang and associates reviewed 11
patients treated with femoral osteotomy and Ilizarov frame
fixation. Most nonambulatory patients were subsequently
able to ambulate after a gain of 50 degrees of extension.
Final knee contractures averaged 34 degrees.73 Moreover,
functional outcomes (e.g., community ambulation, mobility,
transfers) universally decline with age and are not correlated
with the degree of residual flexion deformity. Considering
that less than 50% of patients with knee flexion contrac-
tures maintain community ambulation over time,44 it is
crucial that the surgeon and family realistically assess treat-
ment goals. Treatment options include guided growth of the
distal femur, skeletal frame correction without releases, and
releases and/or femoral osteotomy with and without frame
correction.
Anterior guided growth with small parapatellar plates has
been effective in a small number of studies in reducing knee
flexion contracture. Ambulatory function is improved when
the residual contracture is less than 45 degrees.47
Posterior release surgery is difficult because of the dense
contracture coupled with flattening of the femoral condyles
and lack of anterior skin creases, which are essential to allow
flexion. The patient can be positioned prone if no concomi-
tant procedure on the hip or foot is being performed, but
the anterior exposure may require the patient to be turned
after the popliteal release. Consequently, the supine posi-
tion is used more often.
The knee is approached first through a Henry postero-
lateral incision. The interval between the biceps and fascia
lata is entered, and the dissection is carried posteriorly, deep
to the popliteal neurovascular structures. The posterior
capsule of the knee is readily visualized. The biceps tendon
is lengthened and the fascia lata transected. The posterior
capsule is opened laterally and as far medially as possible.
If full extension is achieved, the procedure can be termi-
nated. Typically, however, only partial correction is achieved
at this point, and further release is required.
Next, a medial incision is made just medial to the semi-
tendinosus muscle. The semitendinosus, semimembrano-
sus, gracilis, and sartorius are lengthened. The remainder of
the posterior capsule medially is also sectioned. If full
extension is possible, the procedure is complete. Often the
knee still lacks full extension, however, and an arthrotomy
is necessary (see Fig. 41-63, C and D). In this case, the knee
is opened anteriorly through a medial parapatellar incision.
Fibrous and fatty accumulations are often encountered
anteriorly between the tibia and femur, and these are
resected. If the suprapatellar pouch is obliterated and the
patella is encased in fibrous tissue against the femoral con-
dyles, it is fully released. At this point, any remaining struc-
tures (except the neurovascular bundle) that prevent
extension are released; these often include the anterior and
posterior cruciates and the collateral ligaments. If the knee
cannot be extended because the neurovascular structures
are tight, femoral shortening is performed with plate fixa-
tion. The surgeon must stress the knee with caution after
femoral shortening because the bone purchase of the plate
and screws may be tenuous.
The knee is splinted in maximum extension, with careful
monitoring of the neurovascular status of the leg and foot.
Range-of-motion exercises can be started at 2 to 3 weeks
 CHAPTER 41  Orthopaedic-Related Syndromes e547

A B

C D

FIGURE 41-63  A, Clinical appearance

of a 1-year-old boy with bilateral
90-degree flexion contractures of the
knees. B, Preoperative radiograph.
C, Anterior arthrotomy. The lateral
femoral condyle (LFC ) is exposed by
sharp excision of the fibrofatty tissue
obliterating the intercondylar notch and
retropatellar space, blocking extension.
D, Further exposure of the intercondylar
notch. E, Postoperative position of
nearly full extension following radical
popliteal release with femoral
shortening and anterior arthrotomy.
F, Recurrence of flexion deformity at
age 11 years. Posterior physeal arrest
has occurred because of the extensive
popliteal release. However, there were
F also incongruent and misshapen femoral
E
condyles that had grown into flexion.
e548 SECTION VII  Other Orthopaedic Disorders
postoperatively (to allow wound healing) or after 6 weeks
if the femur has been shortened. Long-term bracing of the
knee is usually necessary, especially if the quadriceps is not
functional or the knee is unstable.
In those who have reached skeletal maturity, flexion
deformities can be corrected with closing wedge distal
femoral osteotomies. However, femoral extension osteoto-
mies in growing children are not successful. Either the
deformity recurs with growth or, if excessive angulation is
done, a Z deformity of the distal femur develops.16 Varus
and valgus deformities may accompany extension or flexion
deformities and are corrected at the time of reduction of
the primary deformity. Patellar instability is occasionally
present and may be addressed surgically with lateral release,
medial advancement, and correction of knee valgus, if
necessary.
Use of the Ilizarov technique for primary or recurrent
knee flexion contractures can be extremely useful in the
short term. No other method allows correction with joint
distraction, which is often required to obtain full extension
in a long-standing or recurrent contracture.37 Furthermore,
no other method allows gradual extension to overcome
severe soft tissue contractures and allow neurovascular
structures to be accommodated without complications.
Results of Ilizarov correction of knee flexion contracture
are encouraging, considering that these deformities are
often severe and recurrent. Damsin and Ghanem reported
the correction of 13 flexion deformities exceeding 90
degrees to an average of 10 degrees at follow-up, with recur-
rence in only two patients and residual stiffness, reflecting
the severity of the joint deformity, in five.18 Others have
reported success in less severe cases without significant
frame- or technique-related complications.13,33 However,
maintenance of correction, which is related to residual
quadriceps function, and arthritic changes caused by joint
compressive forces and subsequent cartilage necrosis, in
spite of arthrodiastasis techniques, remain long-term prob-
lems with Ilizarov correction.37
Feet
The most frequent foot deformity is a rigid equinovarus that
is more severe than an idiopathic clubfoot (see Fig. 41-58).
However, almost any other foot deformity is possible,
including vertical talus, equinovalgus, and cavus.
Talipes Equinovarus
The equinovarus foot in arthrogryposis is typically severely
plantar-flexed, with greater or lesser degrees of varus and
adduction. Marked calf atrophy and lack of flexion creases
are usual. The tendons are often fibrosed within their
sheaths and lack mobility. The joints of the foot and ankle
are severely fibrosed and may be narrowed or fused. The
extreme rigidity in the typical case precludes correction by
passive stretching or casting. Atypical cases may be more
flexible and responsive to manipulative means.
Recent work has changed the initial treatment of foot
deformities in arthrogryposis from always using a surgical
procedure to initiating Ponseti style serial casting in infancy.
Morcuende and co-workers reported on 32 feet in 16
patients. Seven had had initial treatment elsewhere, and all
were treated with a standard Ponseti protocol. Initial cor-
rection was obtained in all but one patient and an average
of seven casts were required. One patient required a pos-
teromedial release and four cases had subsequent surgery
for relapses. All had satisfactory correction at 4.6-year
follow-up, but no long-term follow-up is available to asses
recurrence.42 Van Bosse and co-workers also reported cor-
rection to a Dimeglio score of 5 with serial casting after a
percutaneous Achilles tenotomy.68 Boehm and colleagues
reported 24 treated feet with good initial correction using
the Ponseti technique, averaging seven casts/foot. Six feet
relapsed, four responded to repeat casting, and two required
complete surgical release.10
Postcasting immobilization, a vital part of Ponseti club-
foot treatment, is even more important in these feet. The
original Denis Browne type of device may be used with
shoes or custom-molded devices. As the child begins crawl-
ing and standing, carefully fit ankle-foot orthoses are useful.
In feet that have mild recurrences, posterior releases and
anterior tibial transfer, when the muscle is present, are
indicated.
For more rigid recurrences, or for patients who present
late, posteromedial releases are necessary. The surgeon must
be prepared to augment the release with surgery on the
bone when necessary. I commonly use a Cincinnati incision.
After mobilization of the neurovascular bundle, the atretic
medial tendons are sectioned or excised without repair. The
Achilles tendon should be resutured, with the foot in neutral
dorsiflexion. The subtalar, tibiotalar, talonavicular, and cal-
caneocuboid joints are opened and released completely.
Releases are done stepwise until the foot is plantigrade.
When residual deformity remains, other options must
be considered. Lateral column shortening is indicated for
residual adductus. This can be done in several ways; I prefer
cuboid decancellation. Unlike excision of the anterior cal-
caneus (Lichtblau procedure) or fusion of the calcaneocu-
boid joint (Evans procedure), some motion may be retained
after excision of the midportion of the cuboid (see Chapter
23). If equinovarus is still present after release, decancella-
tion of the talus (Verebelyi-Ogston procedure) should be
considered.35 This is usually done through a lateral incision,
and a curet is used to remove the cancellous bone of the
talus. The lateral cortex and cartilaginous anlage are incised,
and the talus is crushed by dorsiflexing and everting the foot
to allow its positioning in neutral dorsiflexion and valgus.
Postoperative splinting or casting is needed for 6 weeks. The
foot must then be maintained in an orthosis indefinitely to
avoid loss of correction.
These procedures can usually produce a plantigrade foot,
but one with poor range of motion. Unfortunately, recur-
rence of deformity is common, even though most patients
are maintained in ankle-foot orthoses. Repeat surgery
requires bony wedge resection, triple arthrodesis, or ankle
fusion.21,43 Talectomy has traditionally been avoided because
of the lack of reconstructive options in the case of another
recurrence (i.e., the proximal medial bony column of the
foot, the talus, has already been excised). However, in a
large experience (101 feet) reported by Cassis and Capdev-
ila, talectomy was successful in two thirds of patients,
including those younger than 4 years.16 In that series, trans-
calcaneal pinning and prolonged immobilization were crucial
in maintaining a plantigrade foot at follow-up.
Repeat correction for arthrogrypotic clubfoot involves a
neurovascular risk exceeding that associated with idiopathic

A B
deformities (Fig. 41-64). Because of the more rigid scar
tissue and contracture following posteromedial release,
acute recorrection may be complicated by vascular insuffi-
ciency, presumably because of vessel kinking or stretching
in scarred areas of previous surgery. Extra caution is recom-
mended when using external fixation with acute correction,
and careful vascular assessment with the tourniquet deflated
must accompany any acute correction of a recurrent arthro-
grypotic clubfoot. Incomplete correction may have to be
accepted because of vascular compromise in the dorsiflexed
everted position. Complete correction can be planned later,
with external fixator adjustment or cast change after early
wound stabilization.
Vertical Talus
The vertical talus deformity is treated surgically if it is
severe enough to interfere with plantigrade walking and
shoe wear. Navicular excision is often necessary. The pro-
cedure is described in Chapter 23. The results of these
procedures are somewhat better than those for equinovarus
feet, and postoperative stiffness and recurrence are less
frequent.
Cavovarus Deformity
These deformities can be corrected with plantar release,
midfoot osteotomy, or triple arthrodesis in an older child,
depending on the severity of the deformity.
Upper Extremities
In the past, it was thought that children should be left to
function bimanually with the shoulders internally rotated
and adducted, elbows extended, and wrists flexed. They
often became adept at writing with the hands turned back-
ward and the pencil gripped between adducted fingers.
Today, much greater function is achieved with early reposi-
tioning of the extremities, passive elbow flexion, and cor-
rection of the wrist and hand position to allow functional
CHAPTER 41  Orthopaedic-Related Syndromes e549
FIGURE 41-64  A, Eight-year-old boy 4
days after acute correction of a severe
recurrent clubfoot by multiple midfoot
and hindfoot osteotomies and
application of a foot frame. Vascular
insufficiency was noted on release of
the tourniquet, with no improvement
after release of the correction or removal
of the foot portion of the fixator.
B, Eventual demarcation of necrosis.
A Syme amputation resulted.
activities with the hands forward at desktop or computer
level. Active elbow flexion may be possible if strong motors
are available for transfer. The following principles help
achieve these goals:
• Joint motion should be preserved if at all possible. Even
a very limited range of motion may be functional and
should not be sacrificed.
• Passive motion of a joint must be gained before restoring
active motion.
• Bimanual function is necessary in most patients because
neither hand is likely to have a strong unilateral grasp or
dexterity.
• The shoulders and elbows should allow the hands to
work at tabletop level. This is important for feeding and
working, especially in this high-tech age.
• Before surgical treatment, gentle stretching and manipu-
lation may increase the passive range of motion and make
the limbs more supple.1
The ultimate goal for most patients is independent living
and employment, and proper upper extremity management
may make this possible. My preference is to complete the
major changes in limb position by age 4 years. By 8 years of
age, the use patterns are so well established that the child
may not adapt well to new limb function, so any change in
limb position must be carefully considered.
The first goal is to achieve passive elbow flexion. The
second priority is to correct humeral rotation and then
reposition the wrist and correct the thumb-in-palm defor-
mity. Often, repositioning of the wrist and correction of
thumb-in-palm deformity are performed together.
Shoulder
The shoulder is often contracted into adduction and internal
rotation by joint incongruity and soft tissue contractures
(see Fig. 41-57). Limited scapulothoracic motion, added to
the lack of glenohumeral motion, further compromises
e550 SECTION VII  Other Orthopaedic Disorders
shoulder function. Typically, there is little active flexion or
abduction of the shoulder. A major obstacle to the function
of the elbow and hand is the internal rotation contracture
of the shoulder. Consequently, a useful procedure in the
upper extremity is an external rotation osteotomy of the
humerus to allow the forearm to clear the body as the elbow
flexes. This allows the hands to function at the midline in
front of the body. The osteotomy can be performed at the
midshaft level and fixed with a plate or can be performed
at the supracondylar level with crossed pin fixation. Post-
operatively, the arm should be immobilized only long enough
to achieve early bony union.
Elbow
The elbow deformity is usually one of full extension (see
Fig. 41-57), without active flexion but with some active
triceps function retained. Many children have some passive
flexion, but many others have a contracture at or near
full extension. If elbow flexion is limited to 90 degrees or
less, a tricepsplasty is indicated to gain functional range of
motion. Elbow stability in extension should not be sacrificed
because crutch use may be necessary; modified crutches
may also be required. The extension contracture should be
corrected before a humeral osteotomy is done to correct
rotation.
Posterior Release With Tricepsplasty. A posterior elbow
release with tricepsplasty is performed through a posterior
curvilinear incision. The ulnar nerve is released from its
tunnel and transferred anteriorly into a subcutaneous pro-
tected position. During closure, the subcutaneous tissue is
tacked to the medial epicondyle to prevent posterior dis-
placement of the nerve.
The triceps is lengthened through a long W incision, with
the lateral and medial limbs of the W based distally and
including the triceps expansion (see Plate 41-1). The pos-
terior capsule of the elbow is opened at the tip of the
olecranon. The elbow is gently flexed, with the most pos-
terior fibers of the collateral ligaments being serially released,
FIGURE 41-65  Bipolar transplantation of the
pectoralis major muscle for elbow flexion.
A, Incisions used for the procedure. Solid lines
indicate skin incisions, and dotted lines indicate the
exact extent of detachment of the pectoralis major
and rectus abdominis sheath. B, The completely
detached pectoralis major is rotated on its two
neurovascular pedicles. Its origin is attached to the
biceps tendon, and its insertion is attached to the
acromion through drill holes. A B
as necessary. The surgeon must take care to avoid fracture
or epiphyseal separation from forceful manipulation. It
should be possible to achieve at least 90 degrees of flexion
and still maintain medial and lateral stability. The triceps is
closed in a V to Y, with the medial and lateral limbs closed
over the central tongue of the triceps tendon.
Postoperatively, the elbow is splinted in 90 degrees of
flexion for 3 weeks. Active extension and passive flexion
range-of-motion exercises are then begun, and a resting
splint is used for another 3 weeks. The parents should be
taught to work with the child to maintain flexion and exten-
sion. Van Heest and co-workers have shown an average
increase in range of elbow motion from 32 to 66 degrees
following release.69 Some authors add a humeral osteotomy
to improve flexion after posterior release.77
Procedures to Achieve Active Elbow Flexion. The ideal
transfer to gain active elbow flexion would be to use an
expendable muscle, synergistic with elbow flexion, that can
be appropriately aligned and has good strength. Elbow
flexion must not be unopposed, meaning that active exten-
sion is a prerequisite; otherwise, a flexion contracture will
develop. Unfortunately, this combination is not present in
most children with arthrogryposis. Preoperative selection of
a muscle-tendon unit for transfer is difficult and is usually
not aided by imaging studies, electrodiagnostic studies, or
even physical examination in some cases. It may be neces-
sary to make an incision over the proposed muscle to evalu-
ate its bulk, color, and contractility (with electrical
stimulation) before using that muscle for transfer. Parents
should be advised of the intraoperative decision making that
may be necessary. Several possible elbow flexorplasty pro-
cedures are described here.
Bipolar Pectoralis Major Transfer. The entire pectoralis
major muscle can be transferred by mobilizing it on its
neurovascular pedicle.15 The muscle is repositioned so that
the tendon of insertion is transferred to the coracoid or
acromion, which becomes the new origin of the muscle (Fig.
41-65). The broad fascia of the origin is mobilized and

transferred to the ulna, directly or with a graft if necessary.
This is a good option if the pectoralis major is strong. The
disadvantage of this transfer is that the scars may be disfig-
uring, especially in girls, and may result in breast asymmetry
if done unilaterally.
Bipolar Latissimus Transfer. For this transfer, the entire
latissimus dorsi is mobilized on its pedicle and moved ante-
riorly through the axilla (Figs. 41-66 to 41-68).76 The origi-
nal tendon of insertion is moved to the coracoid or acromion,
where it functions as the origin of the transferred muscle.
The remainder of the muscle and its fascial prolongation are
attached to the ulna distal to the coronoid process. This
transfer is used if the latissimus is strong, but in most
arthrogrypotic children the muscle is fibrotic and its quality
is unsatisfactory for transfer.
Triceps Transfer. Transfer of the entire triceps to the
biceps is mentioned only to advise strongly against it. His-
torically, it has often been used to achieve elbow
flexion.4,14,45,70,71 Short-term follow-up has shown significant
improvement in many children, but over time, severe
flexion contractures develop, and function deteriorates
because of unopposed flexion. If both sides have been oper-
ated on, elbow-extending activities (e.g., crutch walking)
are impossible; even worse, if only one elbow is flexed,
bimanual activities are not feasible. Despite fairly recent
reports of this procedure, I believe that it has no place in
elbow reconstruction in these children.4
Transfer of the Long Head of the Triceps. This transfer is
feasible because the long head of the triceps has a separate
neurovascular pedicle and is sufficiently independent from
the rest of the triceps to be separated easily.23 It is present
in most children with arthrogryposis and can be tested
manually. A fascia lata graft can be used to prolong the
tendon to allow insertion into the proximal ulna. Although
the muscle is not large, satisfactory active elbow flexion can
be gained without loss of active elbow extension.
Steindler Flexorplasty. The Steindler flexorplasty pro-
duces elbow flexion by transferring the flexor pronator origin
from the medial epicondyle to the anterior humerus.63 It
may be useful if the muscle can be isolated preoperatively
and the wrist can be stabilized against excess flexion with the
C5
C6
C7
C8
T1
A B
CHAPTER 41  Orthopaedic-Related Syndromes e551
radial wrist extensors. Unfortunately, most children with
arthrogryposis lack radial wrist extensors, and this transfer
produces unacceptable wrist flexion unless these extensors
are present. Thus this procedure is rarely indicated.
Unipolar Pectoralis Major Transfer (Clark Procedure).
This procedure was popular in the past but is no longer
recommended for two major reasons. First, the line of pull
is such that active elbow flexion can be achieved only when
the arm is abducted. When the shoulder is adducted, muscle
pull results only in further adduction. Second, over time,
an adduction contracture is likely to develop.12
Free Gracilis Transfer. The gracilis can be used as a free
tissue transfer.23 In this procedure, the intercostal nerves
are used to innervate the transferred muscle. The difficulty
with this transfer is the lack of a better source of innerva-
tion. In addition, the gracilis is often fibrotic and nonfunc-
tional in children with arthrogryposis. Like many other
potential transfers to achieve elbow flexion in arthrogry-
potic children, this one is more theoretical than practical.
Wrist
The wrist in arthrogryposis is usually flexed and deviated
ulnarward, and only a small range of motion is available (see
Figs. 41-58 and 41-60). All the structures on the volar side
are contracted, including the joint capsule, tendons, skin,
and subcutaneous tissue. The radial wrist extensors are
fibrotic and nonfunctional, but the extensor carpi ulnaris is
often spared. Carpal coalitions are common.
Early stretching and splinting have been recommended,
but the efficacy is uncertain. Overzealous painful stretching
is clearly inappropriate. Surgical treatment is indicated to
reorient the wrist into a neutral position while maintaining
any available motion. I have found that a midcarpal wedge
resection is the most useful procedure to correct flexion and
ulnar deviation. Simultaneous tendon transfer to provide
radial extension can be done if an appropriate donor tendon,
such as the extensor carpi ulnaris, is available.
Dorsal, Radial Closing Wedge Osteotomy of the Midcar-
pus With Tendon Transfer. The wrist is approached through
a transverse or longitudinal incision on the flexor surface of
Thoracodorsal
artery and
nerve
FIGURE 41-66  A and B, Anatomy of the
latissimus dorsi. Shortly after entering the
muscle, the single neurovascular pedicle
(thoracodorsal nerve and artery) divides into
lateral and medial branches.
e552 SECTION VII  Other Orthopaedic Disorders

LD

A B

PM

LD

C D
FIGURE 41-67  Bipolar transplantation of the latissimus dorsi. A, Incisions used for the procedure. B, The origin and insertion of the
latissimus dorsi (LD) are divided, and the muscle is mobilized on its neurovascular pedicle. C, Transplantation of the muscle under a
cutaneous bridge in the axilla. The origin is redirected through a subcutaneous tunnel in the arm to the biceps tendon. D, The distal
anastomosis is completed first, and the proximal attachment to the coracoid process and its conjoined tendon is used to set the tension.
PM, Pectoralis major.

the distal third of the forearm. The fascia over the wrist
flexors is opened. If the flexor carpi ulnaris has muscle bulk
and excursion, it can be transferred to the extensor carpi
radialis. Usually, however, the flexor carpi ulnaris, flexor
carpi radialis, and palmaris longus are fibrotic and are sec-
tioned at the wrist to increase wrist extension.
A second dorsal incision is made at the level of the
proximal carpal row. The digital and thumb extensors are
isolated and protected. The wrist extensors are isolated
from the dorsal capsule and sectioned. The extensor carpi
ulnaris is mobilized and transferred across the midline of
the wrist and secured to the distal stump of the wrist
capsule or radial wrist extensors.
The radiocarpal capsule is left intact, and the wrist is
opened at the midcarpal level. A wedge resection of the
midcarpus is made, with a closing wedge dorsally and radi-
ally to gain neutral alignment of the wrist. The osteotomy
is closed and secured with several interosseous wires or
nonabsorbable sutures. Redundant capsule and synovium
are resected, and the dorsal capsule is closed. The wrist is
splinted or casted for 6 weeks; a splint is then used full time
for 3 months and part time for a full year.
Proximal Row Carpectomy. Proximal row carpectomy was
used in the past, but because the capitate and radial articula-
tions are grossly abnormal, the procedure usually produced
undesirable incongruity in the radiocarpal articulation. In
addition, the usual carpal coalitions preclude sustained,
useful range of motion.
Wrist Fusion. Wrist fusion may be done as a salvage proce-
dure. However, it is generally undesirable because even a
small amount of motion may be functional for the patient.72
Hand
Flexion contractures of the fingers considerably limit hand
function. The contractures include the flexor tendons, neu-
rovascular bundles, and skin. Passive stretching and splinting

A
B
FIGURE 41-68  A and B, Technique used for a myocutaneous
latissimus dorsi transplantation.
rarely add significant range of motion and, to date, surgical
procedures have not added to finger motion or function.
Certainly, no procedure should result in diminished sensa-
tion, which would severely alter the function of the hand.
The thumb-in-palm deformity is another significant func-
tional impediment, but it may respond to appropriate
releases.
Thenar Release. The skin incision is planned to provide a
maximal increase in skin length. A four-flap Z-plasty is used
to open the thumb–index finger web space. Lack of supple
skin on the palmar aspect of the thumb may be improved
with a rotation flap based on the index metacarpal, trans-
posed over the thumb metacarpophalangeal joint.
The origins of the thenar muscles are exposed and
divided, taking care to preserve the neurovascular bundle.
The adductor is also released. The transverse head is freed
from the long metacarpal shaft, and the oblique head is
freed from the base of the metacarpal. The deep palmar
arch and terminal branch of the ulnar nerve must be pro-
tected between the two heads of the adductor pollicis. The
thumb is then placed in an abducted position, and the flaps
are rotated.
Scoliosis and Spinal Deformity
Scoliosis is an occasional problem in arthrogryposis, with a
reported incidence ranging from 2.5% to 66%. The pre-
dominant curve pattern is a single thoracolumbar curve,
often associated with pelvic obliquity and nonambulation
CHAPTER 41  Orthopaedic-Related Syndromes e553
(see Fig. 41-59). Therefore the deformity is probably neu-
ropathic. Although it might appear that correction of hip
contractures would be beneficial in managing scoliosis, this
has not been addressed directly.17,31,75 Typical arthrogryposis
curves are not congenital.50
It is commonly believed that bracing is ineffective.17,32
This conclusion is probably related to the fact that curve
magnitudes often exceed 30 degrees at prescription in non-
ambulatory patients, in whom progression is not surpris-
ing.75 Based on current management practices for patients
with curves of such magnitude, bracing would likely be
merely a delaying tactic. In patients younger than 8 years,
an early-onset deformity would be managed with tech-
niques that preserve spinal and thoracic growth (see Fig.
41-62). Patients older than 10 years would undergo con-
ventional spinal fusion with instrumentation, with the
limits of the fusion being dictated by standard criteria of
end vertebra selection, pelvic obliquity severity, degree of
maturity, and ambulatory status. In patients with hip exten-
sion deformities, fusion to the pelvis must also take into
consideration how sitting will be accommodated postopera-
tively, with hip releases or flexion osteotomies planned as
necessary.
The surgical treatment of neuropathic curves in arthro-
gryposis can be challenging.75 Patients are often relatively
frail because of muscle atrophy and their nonambulatory
status. The soft tissues around the spine, in contrast, can be
extremely taut and nonextensile, making mere exposure of
the posterior spine a long and bloody procedure. Bleeding
from the bony surfaces is often robust, as is typical in neu-
romuscular cases, and the need for postoperative mechani-
cal ventilation should be anticipated. Low-profile implants,
such as sublaminar wire instrumentation, must be selected
because of poor tissue coverage, which is exacerbated by
the paucity of skin, should significant correction be achieved.
Some arthrogrypotic patients present with thoracic
insufficiency based on weakness and chest wall noncompli-
ance due to spinal deformity and intercostal fibrosis. These
patients may be best treated with expansion thoracoplasty
procedures because of the severity of the respiratory com-
promise (see Fig. 41-62).
References
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e554 SECTION VII  Other Orthopaedic Disorders
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15. Carroll RE, Kleinman WB: Pectoralis major transplantation to
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1979.
16. Cassis N, Capdevila R: Talectomy for clubfoot in arthrogryposis,
J Pediatr Orthop 20:652, 2000.
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gryposis, Clin Orthop Relat Res 194:60, 1985. Sheldon syndrome. Notice the pursed lips, small nose, and
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37:1078, 2012.

Craniocarpotarsal Dysplasia (Freeman-

Sheldon or Whistling Face Syndrome)
Craniocarpotarsal dysplasia was first described in 1938 by
Freeman, an orthopaedic surgeon, and Sheldon, a pediatri-
cian.8 Inheritance of Freeman-Sheldon syndrome is usually
sporadic, but autosomal dominant and autosomal recessive
transmission have been reported.1,5,11
Clinical Features
Freeman-Sheldon syndrome is characterized by a typical
whistling facies consisting of a small, pursed mouth, long
philtrum, small nose, deeply sunken eyes, and scarlike
contracture that extends from the middle of the lower
lip to the chin (Fig. 41-69). In addition, patients exhibit
ulnar deviation and thumb-in-palm deformity (Fig. 41-70),
rigid talipes equinovarus (Fig. 41-71), which is usually
FIGURE 41-70  Rigid thumb-in-palm deformity in a child with
Freeman-Sheldon syndrome.
bilateral, and short stature, generally below the 3rd
percentile.2,7,11,13,15
Other associated anomalies are scoliosis and kyphosis,
developmental dislocation of the hip, occasional spina bifida
occulta, asymmetric pinnae, mild pterygium coli, and pectus
excavatum (Fig. 41-72). The clinical presentation may
mimic that of distal arthrogryposis. Craniocervical abnor-
malities have also been described.14
Treatment
The foot and hand deformities require surgical correc-
tion.3,7,10,15,16 The feet can be very difficult to realign, and
e556 SECTION VII  Other Orthopaedic Disorders
FIGURE 41-71  Bilateral severe clubfeet in Freeman-Sheldon
syndrome.
recurrence of deformity is common. Anesthetic complica-
tions can be troublesome, including difficult intubation
because of microstomia and micrognathia.4,6,9,12
References
Craniocarpotarsal Dysplasia (Freeman-Sheldon or Whistling
Face Syndrome)
1. Alves AF, Azevedo ES: Recessive form of Freeman-Sheldon’s syn-
drome or ‘whistling face.’ J Med Genet 14:139, 1977.
2. Antley RM, Uga N, Burzynski NJ, et al: Diagnostic criteria for the
whistling face syndrome, Birth Defects Orig Artic Ser 11:161,
1975.
3. Call WH, Strickland JW: Functional hand reconstruction in the
whistling-face syndrome, J Hand Surg Am 6:148, 1981.
4. Cervenka J, Gorlin RJ, Figalova P, et al: Craniocarpotarsal
dysplasia or whistling face syndrome, Arch Otolaryngol 91:183,
1970.
5. Dallapiccola B, Giannotti A, Lembo A, et al: Autosomal recessive
form of whistling face syndrome in sibs, Am J Med Genet 33:542,
1989.
6. Duggar RG Jr, DeMars PD, Bolton VE: Whistling face syndrome:
general anesthesia and early postoperative caudal analgesia, Anes-
thesiology 70:545, 1989.
7. Estrada R, Rosenfeld W, Salazar JD, et al: Freeman-Sheldon syn-
drome with unusual hand and foot anomalies, J Natl Med Assoc
73:664, 1981.
8. Freeman EA, Sheldon JH: Cranio-carpo-tarsal dystrophy: an unde-
scribed congenital malformation, Arch Dis Child 13:277, 1938.
9. Jones R, Dolcourt JL: Muscle rigidity following halothane anesthe-
sia in two patients with Freeman-Sheldon syndrome, Anesthesiol-
ogy 77:599, 1992.
10. Kalliainen LK, Drake DB, Edgerton MT, et al: Surgical manage-
ment of the hand in Freeman-Sheldon syndrome, Ann Plast Surg
50:456, 2003.
11. Malkawi H, Tarawneh M: The whistling face syndrome, or cranio-
carpotarsal dysplasia. Report of two cases in a father and son and
review of the literature, J Pediatr Orthop 3:364, 1983.
12. Munro HM, Butler PJ, Washington EJ: Freeman-Sheldon (whis-
tling face) syndrome. Anaesthetic and airway management, Paedi-
atr Anaesth 7:345, 1997.
13. Rinsky LA, Bleck EE: Freeman-Sheldon (whistling face) syndrome,
J Bone Joint Surg Am 58:148, 1976.
14. Song HR, Sarwark JF, Sauntry S, et al: Freeman-Sheldon syn-
drome (whistling face syndrome) and cranio-vertebral junction
malformation producing dysphagia and weight loss, Pediatr Neu-
rosurg 24:272, 1996.
15. Weinstein S, Gorlin RJ: Cranio-carpo-tarsal dysplasia or the whis-
tling face syndrome. I. Clinical considerations, Am J Dis Child
117:427, 1969.
16. Wenner SM, Shalvoy RM: Two-stage correction of thumb adduc-
tion contracture in Freeman-Sheldon syndrome (craniocarpotarsal
dysplasia), J Hand Surg Am 14:937, 1989.
Cornelia de Lange Syndrome
This rare syndrome is characterized by short stature, micro-
cephaly, mental retardation, and distinctive facies compris-
ing bushy eyebrows that meet in the midline, a small,
upturned nose, and full eyelashes (Fig. 41-73).9,12 Patients
have more body hair than usual and may be covered in
persistent lanugo. Mental retardation is usually severe, and
features of autism (e.g., self-mutilation) are common.1,10
Affected children cannot speak, and sensorineural hearing
loss is frequently present.6,14 The severity of mental retarda-
tion has been linked to birth weight, with larger children
faring better.5 Congenital heart malformations are present
in 29% of children, and cleft palate has also been associated
with the syndrome.11
Most cases of Cornelia de Lange syndrome are sporadic,
but autosomal dominant inheritance is seen in familial cases.
Heterozygous mutations in the NIPBL gene have been doc-
umented in 47% of unrelated individuals with Cornelia de
Lange syndrome.3 This gene encodes a protein important to
chromosome function and DNA repair called delangin.15 In
normal parents, the risk of the syndrome occurring in future
pregnancies is approximately 5%. Prenatal ultrasonography
shows a small for gestational age fetus but is usually non-
specific otherwise.2,8,13
Orthopaedic manifestations of Cornelia de Lange syn-
drome include a proximal thumb caused by first metacarpal
shortening, clinodactyly of the fifth finger, and flexion
contractures of the elbows (Fig. 41-74).7 There is wide
variability in the severity of the phenotype in patients
with Cornelia de Lange syndrome. The upper extremity
manifestations range from flexion contractures of the
elbows to radial head dislocations to radial hemimelia with
ray deficiencies.
In the lower extremities, flexion contractures of the
knees have been described infrequently. Syndactyly of
the second and third toes is commonly seen. Other toe
deformities, such as hallux valgus, can occur. Hip dysplasia
has also been reported in patients with Cornelia de Lange
syndrome.4
References
Cornelia de Lange Syndrome
1. Berney TP, Ireland M, Burn J: Behavioural phenotype of Cornelia
de Lange syndrome, Arch Dis Child 81:333, 1999.
2. Drolshagen LF, Durmon G, Berumen M, et al: Prenatal ultrasono-
graphic appearance of Cornelia de Lange syndrome, J Clin Ultra-
sound 20:470, 1992.
3. Gillis LA, McCallum J, Kaur M, et al: NIPBL mutational analysis
in 120 individuals with Cornelia de Lange syndrome and evaluation
of genotype-phenotype correlations, Am J Hum Genet 75:610,
2004.
 CHAPTER 41  Orthopaedic-Related Syndromes e557

A B

C D E F
FIGURE 41-72  A and B, Clinical appearance of the spine of a 7-year-old girl with scoliosis as a part of Freeman-Sheldon syndrome. C and
D, Radiographs of the spine show 70-degree kyphoscoliosis. E and F, Radiographs 4 years after anterior and posterior fusion with
instrumentation show stabilization of the curve.

4. Grant RE, Schneider JA, Ferguson EJ, et al: Total hip reconstruc-
tion in a woman with Cornelia de Lange syndrome: a case report,
J Natl Med Assoc 89:530, 1997.
5. Hawley PP, Jackson LG, Kurnit DM: Sixty-four patients with
Brachmann-de Lange syndrome: a survey, Am J Med Genet 20:453,
1985.
6. Ichiyama T, Hayashi T, Tanaka H, et al: Hearing impairment in
two boys with Cornelia de Lange syndrome, Brain Dev 16:485,
1994.
7. Joubin J, Pettrone CF, Pettrone FA: Cornelia de Lange’s syndrome.
A review article (with emphasis on orthopedic significance), Clin
Orthop Relat Res 171:180, 1982.
e558 SECTION VII  Other Orthopaedic Disorders
FIGURE 41-73  Clinical appearance of a child with Cornelia de
Lange syndrome. Distinctive features include bushy eyebrows,
flexion contractures of the elbows, and radial head dislocations.
A B
FIGURE 41-74  A, Anteroposterior radiograph of the hand of a
12-year-old girl with Cornelia de Lange syndrome. The first
metacarpal is strikingly small, making the thumb appear smaller
and proximally displaced. The fifth ray is absent. B, Upper
extremity of the same girl. The proximal radius is dislocated, and
the ulna is hypoplastic.
8. Kliewer MA, Kahler SG, Hertzberg BS, et al: Fetal biometry in
the Brachmann-de Lange syndrome, Am J Med Genet 47:1035,
1993.
9. Kline AD, Barr M, Jackson LG: Growth manifestations in the
Brachmann-de Lange syndrome, Am J Med Genet 47:1042, 1993.
10. Kline AD, Stanley C, Belevich J, et al: Developmental data on
individuals with the Brachmann-de Lange syndrome, Am J Med
Genet 47:1053, 1993.
11. Kousseff BG, Newkirk P, Root AW: Brachmann-de Lange syn-
drome. 1994 update, Arch Pediatr Adolesc Med 148:749, 1994.
12. Levin AV, Seidman DJ, Nelson LB, et al: Ophthalmologic findings
in the Cornelia de Lange syndrome, J Pediatr Ophthalmol Strabis-
mus 27:94, 1990.
13. Manouvrier S, Espinasse M, Vaast P, et al: Brachmann-de Lange
syndrome: pre- and postnatal findings, Am J Med Genet 62:268,
1996.
14. Sataloff RT, Spiegel JR, Hawkshaw M, et al: Cornelia de Lange
syndrome. Otolaryngologic manifestations, Arch Otolaryngol
Head Neck Surg 116:1044, 1990.
15. Tonkin ET, Wang TJ, Lisgo S, et al: NIPBL, encoding a homolog of
fungal Scc2-type sister chromatid cohesion proteins and fly
Nipped-B, is mutated in Cornelia de Lange syndrome, Nat Genet
36:636, 2004.
Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome is recognized clinically by char-
acteristic facial features, including a broad long nose, which
has been called comical or Cyrano-like, and by broad distal
phalanges of the thumb and great toe. The great toe may
also have a delta phalanx and be deviated into varus.8
Affected individuals are mentally retarded, with an IQ
between 35 and 80.3
Orthopaedic Manifestations
There are three orthopaedic manifestations. First are the
thumb and toe deformities, which should prompt clinical
recognition of the syndrome (Figs. 41-75 and 41-76). The
second orthopaedic feature is cervical spondylolisthesis
associated with congenital vertebral anomalies,7 and the
third is dislocation of the patella.
Associated Anomalies
Children with Rubinstein-Taybi syndrome have other anom-
alies that require careful evaluation before surgery. They
often have congenital heart defects, and occasionally they
have gastrointestinal abnormalities.3,12 A Chiari malforma-
tion with syringomyelia and scoliosis occurs occasionally.6,13
Occipito-C1 condyle subluxation, fusion of the C2-3 arches
with a syrinx, and hypothyroidism have also been reported.1,2
A significant incidence of mediastinal vascular rings has been
reported, with tracheal and esophageal obstruction.10 In
addition, unusual reactions to anesthetic agents8 and giant
keloid formation1 have been noted. A slipped capital femoral
epiphysis has been seen several times.9
Treatment
Successful surgical treatment of patellar dislocation has
been reported; most of the patients had chronic bilateral

FIGURE 41-75  Radiograph showing radial deviation of the thumb
with a delta proximal phalanx. This deformity is a consistent
finding in Rubinstein-Taybi syndrome.
FIGURE 41-76  Radiograph of the thumb of an older child
showing that the delta phalanx is caused by a bracket epiphysis.
Resection of the bracket should be considered to allow
longitudinal growth.
dislocations.11 Another indication for surgical treatment is
symptomatic varus of the thumb or great toe, often caused
by a bracket epiphysis.5 In one review, opening wedge oste-
otomy of the delta phalanx gave better results than a dome-
shaped osteotomy.4 Recurrence after realignment procedures
CHAPTER 41  Orthopaedic-Related Syndromes e559
is common, however, because of the growth disturbance
related to the delta phalanx.
References
Rubinstein-Taybi Syndrome
1. Akin MA, Gunes T, Akin L, et al: Thyroid hypoplasia as a cause
of congenital hypothyroidism in monozygotic twins concordant for
Rubinstein-Taybi syndrome, J Clin Res Pediatr Endocrinol 3:32,
2011.
2. Giussani C, Selicorni A, Fossati C, et al: The association of neural
axis and craniovertebral junction anomalies with scoliosis in
Rubinstein-Taybi syndrome, Childs Nerv Syst 28:2163, 2012.
3. Hennekam RC, Van Den Boogaard MJ, Sibbles BJ, et al: Rubinstein-
Taybi syndrome in the Netherlands, Am J Med Genet Suppl 6:17,
1990.
4. Jain A, Rehman S, Smith G: Long-term results following osteot-
omy of the thumb delta phalanx in Rubinstein-Taybi Syndrome,
J Hand Surg Eur 35:296, 2010.
5. Nguyen JQ, Gatewood JB, Beall D, et al: Longitudinal epiphyseal
bracket, J Okla State Med Assoc 100:380, 2007.
6. Parsley L, Bellus G, Handler M, et al: Identical twin sisters with
Rubinstein-Taybi syndrome associated with Chiari malformations
and syrinx, Am J Med Genet A 155A:2766, 2011.
7. Robson MJ, Brown LM, Sharrard WJ: Cervical spondylolisthesis
and other skeletal abnormalities in Rubinstein-Taybi syndrome,
J Bone Joint Surg Br 62:297, 1980.
8. Rubinstein JH: Broad thumb-hallux (Rubinstein-Taybi) syndrome
1957-1988, Am J Med Genet Suppl 6:3, 1990.
9. Shah H, Singh G, Vijayan S, et al: Second report of slipped capital
femoral epiphysis in Rubinstein-Taybi syndrome, Clin Dysmorphol
20:55, 2011.
10. Shashi V, Fryburg JS: Vascular ring leading to tracheoesophageal
compression in a patient with Rubinstein-Taybi syndrome, Clin
Genet 48:324, 1995.
11. Stevens CA: Patellar dislocation in Rubenstein-Taybi syndrome,
Am J Med Genet 72:188, 1997.
12. Stevens CA, Bhakta MG: Cardiac abnormalities in the Rubinstein-
Taybi syndrome, Am J Med Genet 59:346, 1995.
13. Wojcik C, Volz K, Ranola M, et al: Rubinstein-Taybi syndrome
associated with Chiari type I malformation caused by a large
16p13.3 microdeletion: a contiguous gene syndrome? Am J Med
Genet A 152A:479, 2010.
Otopalatodigital Syndrome
Otopalatodigital syndrome is characterized by cleft palate,
deafness, hallux valgus, and occasional spinal deformities. It
is thought to be an X-linked dominant trait. Omphalocele
has been reported in three cases.8
FLNA missense mutations are associated with the oto-
palatodigital syndrome. These mutations disrupt the devel-
opment of craniofacial and long bones and also cause
coagulopathies and thrombocytopenias.1,5,6 Type I was first
described by Taybi in 1962.7 Findings include mild mental
deficiency, small stature, moderate conductive deafness,
and craniofacial abnormalities, including frontal and occipi-
tal prominence, hypertelorism, and a small nose and mouth.
There is limited elbow extension and medial tibial bowing
(Fig. 41-77). The distal phalanges of the thumbs and toes
are short and broad, and there may be hallux valgus. Trans-
mission is by X-linked dominant expression in males and
intermediate expression in females.2,7
e560 SECTION VII  Other Orthopaedic Disorders

A B C

D
FIGURE 41-77  Radiographic findings in a boy with otopalatodigital syndrome. A, Anteroposterior (AP) radiograph of the foot shows
hallux valgus caused by a hypoplastic proximal phalanx. B, AP radiograph after realignment osteotomy of the proximal phalanx.
C, Lateral radiograph of the elbow shows hypoplasia of the trochlea. Elbow extension is limited. D, Lateral radiograph of the lumbar spine
shows increased lordosis. E, AP radiograph of the pelvis shows an extended pelvic position. Coupled with the lumbosacral lordosis, this
indicates a dissociation of the pelvis from the spine through the sacroiliac joints.

Type II was described by Fitch and colleagues in 1976
and has more severe facial deformities than type I, espe-
cially a prominent forehead, hypertelorism, and usually a
cleft palate.3 The fingers are flexed and overlap, and the
thumbs and great toes are short and broad. Polydactyly is
often present, as well as occasional syndactyly of the hands
and feet. The phalanges of the fingers and toes are poorly
ossified or absent. Joint subluxation is present at the elbows,
wrists, knees, and hips. The vertebral bodies are flattened,
and the ilia may be hypoplastic. Most affected children are
stillborn or die before 5 months of age from respiratory
disorders.3,4,8
References
Otopalatodigital Syndrome
1. Clark AR, Sawyer GM, Robertson SP, et al: Skeletal dysplasias due
to filamin A mutations result from a gain-of-function mechanism
distinct from allelic neurological disorders, Hum Mol Genet 18:4791,
2009.
 CHAPTER 41  Orthopaedic-Related Syndromes e561

2. Dubbing B, Gorlin R, Langer L: The oto-paloto-digital syndrome: a syndrome and not neurofibromatosis, as was long and com-
new symptom-complex consisting of deafness, dwarfism, cleft monly believed.5,30
palate, charactersitic facies, and a generalized bone dysplasia, Am J The genetic implications of Proteus syndrome are not
Dis Child 113:214, 1967.
well understood. Possible transmission from father to son
3. Fitch N, Jequier S, Papageorgiou A: A familial syndrome of cranial,
has been reported.9 Spontaneous mutation as a lethal auto-
facial, oral and limb anomalies, Clin Genet 10:226, 1976.
4. Holder SE, Winter RM: Otopalatodigital syndrome type II, J Med somal dominant condition, with survival attributed to mosa-
Genet 30:310, 1993. icism, has been postulated by others.2 However, no other
5. Nurden P, Debili N, Coupry I, et al: Thrombocytopenia resulting cases in the English literature have recorded a positive
from mutations in filamin A can be expressed as an isolated syn- family history or history of a consanguineous relationship.
drome, Blood 118:5928, 2011.
6. Parrini E, Rivas IL, Toral JF, et al: In-frame deletion in FLNA causing
familial periventricular heterotopia with skeletal dysplasia in males, Clinical Features
Am J Med Genet A 155A:1140, 2011. The clinical features are truly protean in their variety, sever-
7. Taybi H: Generalized skeletal dysplasia with multiple anomalies,
ity, and combinations.§b
AJR Am J Roentgenol 88:450, 1962.
These features are particularly well summarized in
8. Young K, Barth CK, Moore C, et al: Otopalatodigital syndrome type
II associated with omphalocele: report of three cases, Am J Med reviews by Wiedemann and associates36 and Stricker.27 The
Genet 45:481, 1993. primary clinical features are macrodactyly, hemihypertro-
phy, pigmented nevi, subcutaneous tumors (mostly lymph-
angiomas), and axial skeletal anomalies (Fig. 41-78).
Proteus Syndrome Individual patients may not exhibit all these features, and
their severity varies among patients. For example, lower
In 1983, Wiedemann and associates described a newly extremity hemihypertrophy can be a relatively minor finding
recognized hamartomatous syndrome in four boys, charac- or can be severely grotesque, affecting limb function and
terized by the clinical constellation of partial gigantism of greatly challenging the treating physician.18
the hands, feet, or both, pigmented nevi, hemihypertrophy, Macrodactyly (Fig. 41-79) is the most common feature
subcutaneous hamartomatous tumors, and macrocephaly or described. The digits are usually normal at birth but can
other skull anomalies.36 It has been described as a progres- enlarge massively over time. In the hand, the third and
sive, asymmetric, disproportionate overgrowth affecting fourth digits are most commonly affected. Hemihypertro-
tissues derived from any germline layer.29 Wiedemann and phy is almost as common and may be partial or complete
colleagues36 were certain that the syndrome had been rec-
ognized and described by previous authors, including §b
References 3, 6, 13, 15, 20, 33, 34, 35.
Graetz11 in 1928 and Temtamy and Rogers28 in 1976, and
they recommended that it be considered one of the con-
genital hamartomatous disorders, separate and distinct from
conditions such as neurofibromatosis, Klippel-Trénaunay
syndrome, Ollier disease, and Maffucci syndrome. Muta-
tions in the oncogene AKT1 and also in the PTEN tumor
suppressor gene have been associated with Proteus syn-
drome.16,17 This latter mutation suggests possible treatment
with rapamycin.
A recent study noted that the rate of growth in length
of the oversized bones of the hands was similar to that of
the normal bones of the same hand. Pazzaglia and col-
leagues21 proposed that the primary lesion of Proteus syn-
drome occurs in the early embryonic period, and that the
condensation of mesenchyme cells produces oversized car-
tilage anlagen. Subsequent defects of bone cell–mediated
apposition and modeling fit a somatic mosaicism explana-
tion for the cause of this disorder.
Because this disorder is characterized by such striking
and varied deformities, Wiedemann and associates termed
it Proteus syndrome, after the Greek god.36 Proteus (meaning
polymorphous) was capable of transforming into any shape
to disguise himself and thus escape from his enemies. Wie-
demann and associates were certain that this syndrome was
capable of doing the same thing to prevent its detection as
a specific disorder.
One interesting aspect of this extremely rare condition FIGURE 41-78  Adolescent with Proteus syndrome. Note the
(fewer than 100 cases have been described in the English cranial bossing. The patient has cervicothoracic scoliosis with
literature under the term Proteus) is that Joseph (incor- spondylomegaly (see Fig. 41-80), digital macrodactyly,
rectly known as John) Merrick of elephant man fame, hemihypertrophy, hindfoot varus of the left foot and valgus of the
described by Treves32 in 1885, likely suffered from Proteus right, and subcutaneous tumors.
e562 SECTION VII  Other Orthopaedic Disorders
FIGURE 41-79  Hemihypertrophy of the right hand in Proteus
syndrome. Note the enlargement of the distal radius and ulna and
macrodactyly of the first ray.
FIGURE 41-80  Spondylomegaly of the lumbar vertebrae in
Proteus syndrome.
and independent of macrodactyly. Pigmented (epidermal)
nevi are present in more than 75% of patients, may be
located anywhere on the body, and may be covered with
thickened skin. Abrupt midline margins are frequently
noted. Subcutaneous soft tissue tumors may also be found
anywhere in the body. On biopsy, most are lymphangiomas
that are frequently confluent with surrounding normal
tissue, making resection difficult. Axial skeletal anomalies
include vertebral gigantism, with or without scoliosis or
kyphosis (Fig. 41-80), and bony protuberances of the skull
FIGURE 41-81  Hindfoot varus of the left foot and hindfoot valgus
of the right foot in the patient shown in Figure 41-78.
FIGURE 41-82  Verrucous soft tissue hypertrophy of the both feet
(moccasin deformity) in Proteus syndrome. The patient has
undergone resection of the lateral two rays to manage
osteomyelitis and tissue necrosis caused by a previous fixed varus
deformity of the foot.
in the frontotemporal or parieto-occipital area. Other skel-
etal features include genu valgum, hindfoot deformities
(Fig. 41-81), verrucous soft tissue hypertrophy of the sole
of the foot (described by Cohen as a moccasin lesion5; Fig.
41-82), hip dysplasia, exostoses, and generalized accelera-
tion of skeletal growth.
Reported neurologic sequelae include gross motor delay,
mental retardation in some patients, intracranial lesions, a
case of sinus thrombosis,8 and peripheral nerve enlargement
with entrapment syndromes.19 At least four cases of spinal
cord compression have been reported.23,26,35 Three were

Table 41-3  Rating Scale for the Diagnosis of
Proteus Syndrome*
Clinical Feature Points
Macrodactyly, hemihypertrophy, or both
Thickening of skin
Lipomas and subcutaneous tumors
Verrucous epidermal nevus
Macrocephaly, lückenschädel, or both
Other minor abnormalities
From Stricker S: Musculoskeletal manifestations of Proteus syndrome:
report of two cases with literature review, J Pediatr Orthop 12:667,
1992.
*Definitive diagnosis, >13 points; questionable diagnosis, 10 to 13
points; diagnosis excluded, <10 points.
caused by intrathecal angiolipoma and one by acute kypho-
sis. Intraabdominal neoplasms (usually benign) have been
described.10 Finally, death secondary to airway obstruction
can occur spontaneously during sleep (reported in a 5-year-
old child and Merrick himself, at age 29), preoperatively
after sedation, and postoperatively.
Diagnosis
The diagnosis of Proteus syndrome is entirely clinical. It is
based on a demonstration of the characteristic features of
this disorder and on a failure to meet the criteria of similar
congenital hamartomatous conditions. Hotamisligil pro-
posed a rating scale based on the presence of six clinical
features to assist in the diagnosis (Table 41-3).14
Differential Diagnosis
The primary entities to be distinguished from Proteus
syndrome include idiopathic hemihypertrophy, isolated
macrodactyly, neurofibromatosis, Ollier disease, Maffucci
syndrome, and Klippel-Trénaunay syndrome. A rather
recently described syndrome consisted of progressive vas-
cular malformations, dysregulated adipose tissue, scoliosis,
and enlarged bony structures, but without progressive
bony overgrowth. The condition has been called the
CLOVE syndrome—congenital lipomatous overgrowth,
vascular malformations, and epidermal nevi.25 Idiopathic
hemihypertrophy and isolated macrodactyly are normally
distinguished by the absence of other clinical manifestations
associated with Proteus syndrome. Neurofibromatosis
patients often have a family history of the disorder, as well
as café au lait spots, axillary freckling, Lisch nodules, and
distinctly different bony abnormalities (when present).
Ollier disease is characterized primarily by typical osseous
lesions and by the skeletal distortions that result from the
interference of the enchondromas with normal physeal
growth. Maffucci syndrome is similar to Ollier disease, with
the additional features of hemangiomas and a propensity for
soft tissue malignancies. Klippel-Trénaunay syndrome is
characterized by more severe and extensive vascular anoma-
lies rather than simple pigmented nevi and, as a rule, the
skeletal abnormalities are limited to gigantism associated
CHAPTER 41  Orthopaedic-Related Syndromes e563
with soft tissue hypertrophy. These disorders and their
clinical features are described elsewhere in this text.
Orthopaedic Manifestations
5.0
The orthopaedic problems encountered in the reported
4.0 cases of Proteus syndrome include macrodactyly, limb
4.0 length inequality, genu valgum, hindfoot deformity, and
spinal deformity, especially scoliosis.4,7,12,27 Macrodystrophy
3.0
lipomatosa may occur and is considered to be a localized
2.5 form of Proteus syndrome.24 Severe spinal canal stenosis,
1.0 scoliosis, cervical kyphosis, tethered spinal cord, syringohy-
dromyelia, arachnoid cyst, and thoracic deformity with
airway obstruction have been reported.1,37 Reaccumulation
of hypertrophied tissues appears to be common after reduc-
tion procedures, and in general, ablations are preferable
when clinically appropriate. Biopsy of non-neoplastic
enlargement has revealed mature adiposal tissue in a fibrous
stroma in almost all reported cases.
Treatment
The treatment of genu valgum by osteotomy in skeletally
immature patients frequently results in recurrence of the
deformity. Limb length inequality has been managed by
shortening osteotomies or epiphysiodesis. Scoliosis does not
seem to respond to bracing, and instrumentation and fusion
may be required; even with fusion, however, the deformity
can progress. An NIH workshop report provided a number
of useful recommendations for the follow-up and manage-
ment of patients with Proteus syndrome.31
Finally, the treating surgeon should be alert to the pos-
sibility of spinal cord compromise, entrapment neuropa-
thies, and perioperative respiratory problems caused by
positional obstruction or difficulty with intubation.22
References
Proteus Syndrome
1. Anik Y, Anik I, Gonullu E, et al: Proteus syndrome with syringo-
hydromyelia and arachnoid cyst, Childs Nerv Syst 23:1199, 2007.
2. Aylsworth A, Friedmann P, Powers S, et al: New observations with
genetic implicaitons in two syndromes: father to son transmission
of the Nager acrofacial dysostosis syndrome; and parental consan-
guinity in the Proteus syndrome, Am J Hum Genet 41:A43, 1987.
3. Azouz EM, Costa T, Fitch N: Radiologic findings in the Proteus
syndrome, Pediatr Radiol 17:481, 1987.
4. Barmakian JT, Posner MA, Silver L, et al: Proteus syndrome,
J Hand Surg Am 17:32, 1992.
5. Cohen MM Jr: Understanding Proteus syndrome, unmasking the
elephant man, and stemming elephant fever, Neurofibromatosis
1:260, 1988.
6. Cremin BJ, Viljoen DL, Wynchank S, et al: The Proteus syndrome:
the magnetic resonance and radiological features, Pediatr Radiol
17:486, 1987.
7. Demetriades D, Hager J, Nikolaides N, et al: Proteus syndrome:
musculoskeletal manifestations and management: a report of two
cases, J Pediatr Orthop 12:106, 1992.
8. Dietrich RB, Glidden DE, Roth GM, et al: The Proteus syndrome:
CNS manifestations, AJNR Am J Neuroradiol 19:987, 1998.
9. Goodship J, Redfearn A, Milligan D, et al: Transmission of Proteus
syndrome from father to son? J Med Genet 28:781, 1991.
10. Gordon PL, Wilroy RS, Lasater OE, et al: Neoplasms in Proteus
syndrome, Am J Med Genet 57:74, 1995.
e564 SECTION VII  Other Orthopaedic Disorders
11. Graetz I: Uber einen Fall von sogenannter totaler halbseitiger
Korperhypertrophie, Z Kinerheilk 45:381, 1928.
12. Guidera KJ, Brinker MR, Kousseff BG, et al: Overgrowth
management in Klippel-Trenaunay-Weber and Proteus syndromes,
J Pediatr Orthop 13:459, 1993.
13. Hoeger PH, Martinez A, Maerker J, et al: Vascular anomalies in
Proteus syndrome, Clin Exp Dermatol 29:222, 2004.
14. Hotamisligil G: Proteus syndrome and hamartoses with over-
growth, Dysmorphol Clin Genet 4:87, 1990.
15. Lacombe D, Taieb A, Vergnes P, et al: Proteus syndrome in
7 patients: clinical and genetic considerations, Genet Couns 2:93,
1991.
16. Lindhurst MJ, Sapp JC, Teer JK, et al: A mosaic activating muta-
tion in AKT1 associated with the Proteus syndrome, N Engl J Med
365:611, 2011.
17. Marsh DJ, Trahair TN, Martin JL, et al: Rapamycin treatment for
a child with germline PTEN mutation, Nat Clin Pract Oncol
5:357, 2008.
18. Mayatepek E, Kurczynski TW, Ruppert ES, et al: Expanding the
phenotype of the Proteus syndrome: a severely affected patient
with new findings, Am J Med Genet 32:402, 1989.
19. McCullagh M, Harper J, Pitt MC, et al: Median nerve compression
in Proteus syndrome, Pediatr Surg Int 13:449, 1998.
20. Nguyen D, Turner JT, Olsen C, et al: Cutaneous manifestations of
Proteus syndrome: correlations with general clinical severity, Arch
Dermatol 140:947, 2004.
21. Pazzaglia UE, Beluffi G, Bonaspetti G, et al: Bone malforma-
tions in Proteus syndrome: an analysis of bone structural changes
and their evolution during growth, Pediatr Radiol 37:829,
2007.
22. Pennant JH, Harris MF: Anaesthesia for Proteus syndrome, Anaes-
thesia 46:126, 1991.
23. Ring D, Snyder B: Spinal canal compromise in Proteus syndrome:
case report and review of the literature, Am J Orthop 26:275,
1997.
24. Rohilla S, Jain N, Sharma R, et al: Macrodystrophia lipomatosa
involving multiple nerves, J Orthop Traumatol 13:41, 2012.
25. Sapp JC, Turner JT, van de Kamp JM, et al: Newly delineated
syndrome of congenital lipomatous overgrowth, vascular malfor-
mations, and epidermal nevi (CLOVE syndrome) in seven patients,
Am J Med Genet A 143A:2944, 2007.
26. Skovby F, Graham JM Jr, Sonne-Holm S, et al: Compromise of
the spinal canal in Proteus syndrome, Am J Med Genet 47:656,
1993.
27. Stricker S: Musculoskeletal manifestations of Proteus syndrome:
report of two cases with literature review, J Pediatr Orthop 12:667,
1992.
28. Temtamy SA, Rogers JG: Macrodactyly, hemihypertrophy, and
connective tissue nevi: report of a new syndrome and review of
the literature, J Pediatr 89:924, 1976.
29. Thomason JL, Abramowsky CR, Rickets RR, et al: Proteus
syndrome: three case reports with a review of the literature,
Fetal Pediatr Pathol 31:145, 2012.
30. Tibbles JA, Cohen MM Jr: The Proteus syndrome: the Elephant
Man diagnosed, Br Med J 293:683, 1986.
31. Tosi LL, Sapp JC, Allen ES, et al: Assessment and management
of the orthopedic and other complications of Proteus syndrome,
J Child Orthop 5:319, 2011.
32. Treves F: A case of congenital deformity, Trans Pathol Soc Lond
36:494, 1885.
33. Vaughn RY, Selinger AD, Howell CG, et al: Proteus syndrome:
diagnosis and surgical management, J Pediatr Surg 28:5, 1993.
34. Viljoen DL, Nelson MM, de Jong G, et al: Proteus syndrome in
southern Africa: natural history and clinical manifestations in six
individuals, Am J Med Genet 27:87, 1987.
35. White NJ, Cochrane DD, Beauchamp R: Paraparesis caused by an
angiolipomatous hamartoma in an adolescent with Proteus syn-
drome and scoliosis, J Neurosurg 103(Suppl):282, 2005.
36. Wiedemann HR, Burgio GR, Aldenhoff P, et al: The Proteus syn-
drome. Partial gigantism of the hands and/or feet, nevi, hemihy-
pertrophy, subcutaneous tumors, macrocephaly or other skull
anomalies and possible accelerated growth and visceral affections,
Eur J Pediatr 140:5, 1983.
37. Yamamoto A, Kikuchi Y, Yuzurihara M, et al: A case of Proteus
syndrome with severe spinal canal stenosis, scoliosis, and thoracic
deformity associated with tethered cord, Jpn J Radiol 30:336,
2012.
Klippel-Trénaunay Syndrome
In 1900, Klippel and Trénaunay described a patient with
the triad of cutaneous nevus, varicosities, and limb hyper-
trophy.16 In a review of 50 other cases from the literature,
they also described what they called forme fruste cases, in
which the patients manifested only two features of the
triad, and crossed dissociation cases, in which the hyper­
trophied limb was the uninvolved or lesser involved
extremity.
In 1907, Weber described three cases with the same
triad of symptoms, and in 1918, he described an additional
patient with the triad and arteriovenous fistulae.30,31 In
1965, Lindenauer also distinguished between the presence
and absence of arteriovenous fistulae in association with the
triad.19 Unfortunately, in outlining the history of publica-
tions describing the syndrome, Lindenauer referred to
F. Parkes Weber as Parkes-Weber,19 leading to some con-
fusion over terminology and the specific definition of the
syndrome. Some authors use the term Klippel-Trénaunay
syndrome strictly for patients with at least two of the classic
triad, reserving Klippel-Trénaunay-Weber syndrome (or
Parkes-Weber syndrome) for patients with features of the
triad plus arteriovenous fistulae (my preference). Others
refer to Klippel-Trénaunay-Weber syndrome without speci-
fying, or necessarily identifying or requiring, the presence
of arteriovenous fistulae. Still others have suggested that the
presence of two or more of the four features be termed
Klippel-Trénaunay–type syndrome.3
This confusion in terminology is compounded by a lack
of understanding of the pathophysiology of the disorder, an
absence of any identifiable genetic features, and the fact
that the diagnosis is a purely clinical, descriptive one.
Adding to the confusion are rare individual cases in which
the classic triad overlaps with features associated with neu-
rofibromatosis or Proteus syndrome.13
Pathophysiology
The cause of Klippel-Trénaunay syndrome is not known. It
is clearly not a genetic condition, although its features are
usually evident from birth. RASA1 mutations are associated
with the Klippel-Trénaunay syndrome.7,32
Liu and co-workers, using magnetic resonance lymphan-
giography with contrast, found that lymphatic vessel abnor-
malities and venous dysplasia were present in 31 of 32
patients studied.20 Baskerville and associates conducted a
study of blood flow and deep venous competence in 33
patients with 36 affected lower extremities; some patients
had nevi on their otherwise unaffected contralateral lower
limbs.5 An abnormal lateral venous channel was found in 23

limbs (64%), but only 5 patients (15%) had atresia of the
deep venous system. Some patients had incompetent com-
municating veins in the calf and valveless or incompetent
deep veins. Blood flow measurements in the calf revealed
that flow was greater in limbs with nevi and greatest in limbs
with both nevi and hypertrophy, compared with completely
unaffected limbs. However, all measured values were within
normal limits, confirming for the authors that an arteriove-
nous fistula was not present. Furthermore, there was no
correlation between the increase in calf blood flow and
extent of hypertrophy. It was hypothesized that Klippel-
Trénaunay syndrome is caused by a mesodermal defect,
resulting in the maintenance of fetal microscopic arteriove-
nous communications.
In a histologic study of tissue samples from 29 surgically
treated patients, the most common and consistent vascular
lesions represented venous fibromuscular dysplasia.18 The
lesions consisted of abnormal development of the vein wall,
with alternating segments of normal, hypertrophied, or defi-
cient media. Aneurysmal dilation occurred where the media
was deficient. Only one microscopic arteriovenous fistula
was identified in one of two amputated lower limb speci-
mens; neither amputated limb demonstrated deep vein
atresia or absence.
Clinical Features
Nevus
The nevus, or birthmark, is most commonly a port-wine
stain. It can be located anywhere on the body, but at a
minimum, it usually discolors the hypertrophied limb. This
mark is almost always present at birth. Its size and intensity
A B
FIGURE 41-83  A and B, Patient with classic Klippel-Trénaunay syndrome. Note the triad of port-wine stain, varicosities, and significant
bone and soft tissue hypertrophy of the right lower extremity.
CHAPTER 41  Orthopaedic-Related Syndromes e565
can change as the patient matures, often fading but rarely
disappearing. Abrupt midline borders usually demarcate
larger lesions.
Varicosities
Varicosities typically develop with growth but may be
present from birth. In the lower limb, these varicosities
include a lateral system and are usually not associated with
deep venous system incompetence.
Bone and Soft Tissue Hypertrophy
Bone and soft tissue hypertrophy of the limb vary consider-
ably in onset and severity. In some cases, the hypertrophy
is present at birth; in others, it develops with growth. The
distortions can vary from a mild limb length discrepancy to
an inequality that exceeds 10 cm, with disfiguring anoma-
lies or enlargement of the digits (Fig. 41-83).12,13,21,22,25 In
most cases (up to 90%), the lower extremity is involved,
but the upper extremity can be the hypertrophied limb.
Usually, the limb affected by the nevus and varicosities
is the one that is hypertrophied; however, in perhaps 1%
to 2% of cases, the contralateral limb is the enlarged one,
a feature that Klippel and Trénaunay termed crossed
dissociation.
Other Associated Conditions
Associated orthopaedic conditions include developmental
dysplasia of the hip (10 of 252 patients in the series by
Jacob and associates13), syndactyly, metatarsus adductus,
congenital clubfoot, and scoliosis. Nonorthopaedic features
that can occur over time include thrombophlebitis,
recurrent cellulitis, friability of the extremity, pelvic and
e566 SECTION VII  Other Orthopaedic Disorders
intraabdominal varices causing local hemorrhage, hematu-
ria, rectal bleeding, intraabdominal bleeding and, rarely,
intracranial hemorrhage.‖b
In a review of 49 patients by Baskerville and associates,
25% had one or more severe, spontaneous hemorrhages
from dilated varices, 22% had venous thromboembolism,
and 29% had episodes of rectal bleeding or hematuria from
pelvic angiomas.5 In the series of 252 patients reported by
Jacob and associates, 11 had deep venous thrombosis and 9
had pulmonary embolism, which was fatal in 1 patient.13
Risk factors for developing deep venous thrombosis include
pelvic surgery, pregnancy, sclerotherapy, oral contraceptive
use, and invasive studies.
Diagnosis and Evaluation
The diagnosis is based on identifying the three clinical fea-
tures of the triad—nevus, varicosities, and bone and soft
tissue hypertrophy. In most series, females slightly outnum-
ber males in a ratio of 1.3:1.13,21,25 Most patients have evi-
dence of the syndrome at birth. This was true of 90% of
the patients in the series reported by Jacob and associates,
and family members recognized the presence of some
features of the syndrome in affected children by 9 years
of age.13
Patients with the Klippel-Trénaunay triad should be
assessed for the presence and extent of limb length
inequality. If a discrepancy is found, it should be further
documented with scanography, repeated as necessary during
the patient’s growth.
The presence of arteriovenous fistulae should be assessed
clinically by palpating and auscultating for bruits and by
examining the patient for evidence of high-output cardiac
failure.16 If either is present, arteriography should be per-
formed. As noted, true arteriovenous fistulae are uncom-
mon in Klippel-Trénaunay syndrome (KTS), and if they are
present, the entity is more accurately called Klippel-Trénau-
nay-Weber syndrome. Alomari and associates recently noted
that spinal arteriovenous malformations were not associated
with KTS, as had been erroneously reported.1 Oishi and
Ezaki reported that large upper extremity venous malforma-
tions were associated with venous thrombosis and pulmo-
nary emboli.23
In patients with symptomatic varicosities who are
candidates for superficial ligation, the competency of the
deep venous system should be carefully evaluated by phle-
bography, Doppler flow studies, or MRI before surgery.
Other symptomatic vascular lesions, such as intrapelvic or
intramuscular angiomas, should be assessed by MRI to
determine the extent of the lesion and feasibility of
resection.4,10,17
Treatment
Most patients with Klippel-Trénaunay syndrome need only
symptomatic treatment.13,21,25 If the varicosities are minimal,
the nevus is superficial and stable, and the lower extremity
hypertrophy results in less than 2 cm of limb length inequal-
ity, without significant foot distortion, supportive treatment
and reassurance may be sufficient.29
‖b
References 2, 5, 8, 9, 13, 15, 24, 25, 28.
Ligation or sclerotherapy can be considered for symp-
tomatic varicosities, but as noted, the presence and compe-
tence of the deep venous system must be carefully assessed
beforehand; otherwise, treatment is unlikely to be success-
ful.13,25 Recently, the use of ultrasound-guided sclerotherapy
with polidocanol foam has been shown to reduce the size
of lesions and decrease the associated pain.6 Intermittent or
prophylactic antibiotics may be necessary for recurrent cel-
lulitis. Thrombophlebitis and thromboembolism may
require bed rest, elevation of the extremity, and anticoagu-
lation therapy. Prophylactic therapy against thrombophlebi-
tis and thromboembolism should be carefully considered
when major orthopaedic, pelvic, or invasive investigational
procedures are required. The use of oral contraceptives
increases the risk of these complications and should be
avoided.
Resection of venous or lymphatic lesions is difficult and
is often incomplete or followed by recurrence of the lesion.
Thus careful preoperative assessment with MRI is required,
and the decision to proceed with resection should be based
on the extent of problems caused by the lesion. The surgeon
also needs to take into account potential recurrence,
intraoperative bleeding, and the pain that can result from
attempted resection.4,10,17
Venous or lymphatic stasis can cause soft tissue swelling
of an extremity, compounding the true bone and soft tissue
hypertrophy of the syndrome. This problem can be managed
by a program of nocturnal intermittent pneumatic compres-
sion combined with the prescription of a custom-fitted,
graduated, compression support garment to be worn during
the day on the affected extremity. This approach can sig-
nificantly improve the soft tissue swelling component of
limb enlargement, and it can also improve symptoms from
varicosities or friable superficial lesions.13,27 Reduction in
limb enlargement, however, does not appear to influence
limb length inequality at maturity.
Orthopaedic management is generally directed toward
treating the bone and soft tissue hypertrophy. Shoe lifts and
custom-fitted shoes may be needed if there is significant
limb length inequality or differences in foot size. Skeletally
immature patients with limb length inequality more than
2 cm should be monitored by clinical examination supple-
mented with scanography. Because the rate of growth of the
hypertrophied limb is unpredictable,12,13,21,25 length discrep-
ancies need to be documented on a regular basis. The most
appropriate surgical procedure to manage limb length dis-
crepancy more than 2 cm is an appropriately timed epiphys-
iodesis of the longer limb. Wound healing is not a problem
after standard epiphysiodesis techniques.11,12
Patients with local gigantism can be treated by reduction
procedures, epiphysiodesis, ray or digital resection, or
amputation for functional or cosmetic purposes. Local
reduction procedures are often unsatisfactory because of
inadequate reduction, recurrence, or wound healing prob-
lems. Symptoms of pain, swelling, and limited range of
motion because of intraarticular vascular malformations of
the knee may be relieved following surgical synovectomy.14
Ray resection for the treatment of localized digital gigantism
or as a method of foot reduction has been successful, and
wound healing is not a common problem.11,13 Occasionally,
a Syme or below-knee amputation is necessary for extreme
gigantism or poor foot function.13,26 However, the treating

surgeon and family must be aware that wound dehiscence,
bleeding, or infection complicates almost every amputation
in patients with Klippel-Trénaunay syndrome. These com-
plications require extended local care or repeated débride-
ments, but good function and fitting of the residual limb are
ultimately achieved in most cases.
References
Klippel-Trénaunay Syndrome
1. Alomari AI, Orbach DB, Mulliken JB, et al: Klippel-Trenaunay
syndrome and spinal arteriovenous malformations: an erroneous
association, AJNR Am J Neuroradiol 31:1608, 2010.
2. Aronoff DM, Roshon M: Severe hemorrhage complicating the
Klippel-Trenaunay-Weber syndrome, South Med J 91:1073, 1998.
3. Atiyeh BS, Musharrafieh RS: Klippel-Trenaunay-type syndrome: an
eponym for various expressions of the same entity, J Med 26:253,
1995.
4. Baraldini V, Coletti M, Cipolat L, et al: Early surgical management
of Klippel-Trenaunay syndrome in childhood can prevent long-
term haemodynamic effects of distal venous hypertension,
J Pediatr Surg 37:232, 2002.
5. Baskerville PA, Ackroyd JS, Lea Thomas M, et al: The Klippel-
Trenaunay syndrome: clinical, radiological and haemodynamic fea-
tures and management, Br J Surg 72:232, 1985.
6. Blaise S, Charavin-Cocuzza M, Riom H, et al: Treatment of low-
flow vascular malformations by ultrasound-guided sclerotherapy
with polidocanol foam: 24 cases and literature review, Eur J Vasc
Endovasc Surg 41:412, 2011.
7. Boutarbouch M, Ben Salem D, Gire L, et al: Multiple cerebral
and spinal cord cavernomas in Klippel-Trenaunay-Weber syndrome,
J Clin Neurosci 17:1073, 2010.
8. Darwish K, Bleau BL: Extensive small bowel varices as a cause of
severe anemia in Klippel-Trenaunay-Weber syndrome, Am J Gas-
troenterol 93:2274, 1998.
9. de Leon-Casasola OA, Lema MJ: Anesthesia for patients with
Sturge-Weber disease and Klippel-Trenaunay syndrome, J Clin
Anesth 3:409, 1991.
10. Enjolras O, Chapot R, Merland JJ: Vascular anomalies and
the growth of limbs: a review, J Pediatr Orthop B 13:349,
2004.
11. Gates PE, Drvaric DM, Kruger L: Wound healing in orthopaedic
procedures for Klippel-Trenaunay syndrome, J Pediatr Orthop
16:723, 1996.
12. Guidera KJ, Brinker MR, Kousseff BG, et al: Overgrowth
management in Klippel-Trenaunay-Weber and Proteus syndromes,
J Pediatr Orthop 13:459, 1993.
13. Jacob AG, Driscoll DJ, Shaughnessy WJ, et al: Klippel-Trenaunay
syndrome: spectrum and management, Mayo Clin Proc 73:28,
1998.
14. Johnson JN, Shaughnessy WJ, Stans AA, et al: Management of
knee arthropathy in patients with vascular malformations, J Pediatr
Orthop 29:380, 2009.
15. Katsaros D, Grundfest-Broniatowski S: Successful management of
visceral Klippel-Trenaunay-Weber syndrome with the antifibrinol-
ytic agent tranexamic acid (cyclocapron): a case report, Am Surg
64:302, 1998.
16. Klippel M, Trénaunay P: Du noevus variqueux osteohypertro-
phique, Arch Gen Med 185:641, 1900.
17. Lee A, Driscoll D, Gloviczki P, et al: Evaluation and management
of pain in patients with Klippel-Trenaunay syndrome: a review,
Pediatrics 115:744, 2005.
18. Lie JT: Pathology of angiodysplasia in Klippel-Trenaunay syndrome,
Pathol Res Pract 183:747, 1988.
19. Lindenauer SM: The Klippel-Trenaunay syndrome: varicosity,
hypertrophy and hemangioma with no arteriovenous fistula, Ann
Surg 162:303, 1965.
CHAPTER 41  Orthopaedic-Related Syndromes e567
20. Liu NF, Lu Q, Yan ZX: Lymphatic malformation is a common
component of Klippel-Trenaunay syndrome, J Vasc Surg 52:1557,
2010.
21. McGrory BJ, Amadio PC: Klippel-Trenaunay syndrome: orthopae-
dic considerations, Orthop Rev 22:41, 1993.
22. McGrory BJ, Amadio PC, Dobyns JH, et al: Anomalies of the
fingers and toes associated with Klippel-Trenaunay syndrome,
J Bone Joint Surg Am 73:1537, 1991.
23. Oishi SN, Ezaki M: Venous thrombosis and pulmonary embolus in
pediatric patients with large upper extremity venous malforma-
tions, J Hand Surg Am 35:1330, 2010.
24. Oyesiku NM, Gahm NH, Goldman RL: Cerebral arteriovenous
fistula in the Klippel-Trenaunay-Weber syndrome, Dev Med Child
Neurol 30:245, 1988.
25. Samuel M, Spitz L: Klippel-Trenaunay syndrome: clinical features,
complications and management in children, Br J Surg 82:757,
1995.
26. Sooriakumaran S, Landham TL: The Klippel-Trenaunay syndrome,
J Bone Joint Surg Br 73:169, 1991.
27. Stringel G, Dastous J: Klippel-Trenaunay syndrome and other
cases of lower limb hypertrophy: pediatric surgical implications,
J Pediatr Surg 22:645, 1987.
28. Taira T, Tamura Y, Kawamura H: Intracranial aneurysm in a child
with Klippel-Trenaunay-Weber syndrome: case report, Surg Neurol
36:303, 1991.
29. van der Poleg H, van der Poleg M, van der Poleg-Stapert J: Psy-
chological aspects of the Klippel-Trenaunay syndrome, J Psychosom
Res 39:183, 1995.
30. Weber F: Angioma formation in connection with hypertrophy of
limbs and hemihypertrophy, Br J Dermatol 19:231, 1907.
31. Weber F: Hemangiectatic hypertrophy of limbs: congenital phle-
barteriectasis and so-called congenital varicose veins, Br J Child
Dis 15:13, 1918.
32. Wooderchak-Donahue W, Stevenson DA, McDonald J, et al:
RASA1 analysis: clinical and molecular findings in a series of con-
secutive cases, Eur J Med Genet 55:91, 2012.
Metatropic Dwarfism (Dysplasia)
First described as a separate entity by Maroteaux and col-
leagues13 in 1966, this rare skeletal dysplasia is often con-
fused with achondroplasia and Morquio syndrome.12,15 In
infancy, patients have short limbs and a normal trunk length;
over time, the limbs become more disproportionately short,
with prominent contracted joints, and the trunk assumes a
moderate to severe kyphoscoliosis, producing a shorter and
more deformed individual. The changing nature of the clini-
cal severity led to the term metatropic, meaning a changing
or variable course. Mutations in the TRPV4 gene, which
encodes a calcium-permeable ion channel, has been found
to cause metatropic dysplasia.1,7,8
Initial radiographs are often diagnostic. The spine dem-
onstrates severe platyspondyly and delayed ossification of
the vertebral bodies, and the extremities show a dumbbell
pattern of marked metaphyseal flaring combined with
extreme shortening (Fig. 41-84). Based on a pathologic
specimen, these findings have been explained as resulting
from continued perichondrial ring functioning producing
circumferential metaphyseal growth in the presence of
total physeal failure, producing no longitudinal growth.6
Later, the joints demonstrate irregular articular surfaces,
ossification of the epiphyses is delayed, and joint incongru-
ity and premature arthritic changes are common. Odontoid
e568 SECTION VII  Other Orthopaedic Disorders

FIGURE 41-84  Radiographic appearance of metatropic dwarfism. A, Lateral

radiographs of the lower extremities in maximum knee extension in a 6-year-
old child with metatropic dysplasia. Note the more severe flexion deformity
on the left. The flared metaphyses and dumbbell shape of the long bones are
obvious. B, Lower extremities of a 3-month-old exhibiting early evidence of B
metatropic metaphyseal changes.

hypoplasia with a high incidence of C1-2 instability is
almost universal.16
Clinically, some infants have a tail-like appendage over
the lower sacrum. The head and face are usually normal
(although they are sometimes described as elongated),
which makes the differentiation from achondroplasia rela-
tively straightforward; however, an enlarged head and ven-
triculomegaly (macrocephaly > 97th percentile) are also
common.16 Progression of the limb contractures is notable,
and patients may have difficulty achieving an upright
posture; more importantly, their ambulation may deterio-
rate because of progression of the contractures, which are
incompatible with an upright gait (Fig. 41-85). Asymmetric
lower extremity contractures can be responsible for pelvic
obliquity, which may add to the severity of the kyphoscolio-
sis that develops in the first few years of life.
Knowledge of the clinical course of metatropic dysplasia
is somewhat limited, with only about 75 reported cases as of
1995.14 The spectrum of severity includes a lethal perinatal
form and, at the opposite extreme, a mild form with minimal
changes.4,10,15 Most patients achieve adulthood, with a
stature shorter than 1.2 m.12 Many infants have severe respi-
ratory difficulties that are life-threatening, with a significant
component being the small narrowed thorax (see Fig. 41-85).
Although restrictive and obstructive changes have been
detected by pulmonary function tests, the possibility of
respiratory compromise caused by myelopathy from C1-2
instability must be considered, along with symptomatic
hydrocephalus.3,11,16 Mechanical problems with respiration
may be complicated by pectus excavatum or carinatum, as
well as by bronchial or tracheal chondromalacia.15
In patients who survive infancy and achieve ambulatory
status, orthopaedic treatment is directed toward the upper
cervical spine and kyphoscoliosis. Severe limb deformities
may justify corrective osteotomies, but there is little in the
literature describing the application of this surgery or its
efficacy. Because severe progressive contractures may elimi-
nate the ability to walk, it seems reasonable that some type
of treatment to prevent this outcome is indicated (see Figs.
41-84 and 41-85). I have no experience in lower extremity
realignment in these patients.
C1-2 instability producing spinal cord compression and
myelopathy is a well-known feature of the disorder and,
with the identification of odontoid hypoplasia on the earli-
est radiographs, it should not escape detection (Fig. 41-86).2
Neurologic assessment and periodic plain radiography
should be performed, with MRI assessment added if there
is any question of progressive subluxation, which is often
fixed on flexion-extension films, or myelopathy. Torticollis
has been described as a possible mechanism to protect the
spinal canal, which is stenotic and relieved to some extent
by extension with rotation, and the airway, which may be
similarly compressed when there is fixed upper cervical
subluxation.11 Of metatropic dysplasia patients, 75%

A B
FIGURE 41-85  Metatropic dwarfism. A and B,
Clinical appearance showing asymmetric,
progressive lower extremity contractures. The pelvic
obliquity induced by the more severe left knee
contracture is additive to the hyperscoliosis.
C, Standing lower extremity radiograph shows
pelvic obliquity. D, Left scoliosis induced by pelvic
obliquity as a result of asymmetric contractures.
The narrow thorax seen in metatropic dysplasia was
relatively mild in this patient. In another patient,
more severe thorax narrowing. This infant died of D E
respiratory failure at 1 year of age.
demonstrate cervical stenosis (space available for the cord
[SAC] < 11 mm) on MRI, emphasizing the importance
of decompression when treating the C1-2 instability.11
This stenosis may occur at the C1-2 segment or at subaxial
cervical levels. Prompt posterior C1-2 fusion, usually sup-
ported by a halo vest, is probably the treatment of choice
once upper cervical instability or cord compression has
been confirmed. Weakness caused by myelopathy, and
resultant respiratory compromise, should not be a source
of mortality in patients with this dysplasia. Nevertheless,
because the preoperative respiratory status of these patients
is frequently compromised by noncompliant chest walls
and kyphoscoliosis, in addition to any myelopathic weak-
ness, significant complications from cervical surgery,
including ventilator dependence and death, are probably
unavoidable.11
CHAPTER 41  Orthopaedic-Related Syndromes e569
C
Kyphoscoliosis may progress rapidly during the early
years of life, and the deformities are typically rigid. Because
of the rigidity of the spine, any pelvic obliquity caused by
asymmetric lower extremity deformities exacerbates the
labored posture and gait. Orthotic management has been
mentioned in the literature,3 but because of the small size
of these patients and the rigidity of their deformities, it
probably has little efficacy. Subcutaneous instrumentation
without fusion has been reported in children as young as 2
years,9 with little improvement in the clinical course because
of the well-known complications associated with that pro-
cedure (e.g., loss of fixation, infection, recurrence or wors-
ening of the deformity). In patients presenting at a later age,
osteotomy and halo traction have been reported,5 with defi-
nite improvement in the kyphosis, followed by spinal fusion
augmented with instrumentation. In my experience, in situ
e570 SECTION VII  Other Orthopaedic Disorders

C
FIGURE 41-86  Imaging findings in metatropic dwarfism. A, Odontoid hypoplasia with C1-2 fixed subluxation in flexion. B, Magnetic
resonance image shows stenosis at C1-2 at the posterosuperior margin of the dens. Weakness was the primary complaint, although
unequivocal neurologic findings were absent. C, Reduction was achieved with a halo vest and posterior occiput-C2 fusion. The patient
went on to achieve a radiographically solid arthrodesis without significant improvement in functional strength.

fusion and cast correction have been used, primarily because
of the diminutive spinal elements and the presence of osteo-
penia (Fig. 41-87). Intervention before the development of
neurologic compromise from the kyphoscoliosis,3,5 with sta-
bilization of the deformity, is the goal of any spinal surgery
for metatropic dysplasia.
References
Metatropic Dwarfism (Dysplasia)
1. Andreucci E, Aftimos S, Alcausin M, et al: TRPV4-related skeletal
dysplasias: a phenotypic spectrum highlighted byclinical, radio-
graphic, and molecular studies in 21 new families, Orphanet J Rare
Dis 6:37, 2011.

B
2. Barna M, Stulik J, Fencl F: [Metatropic dysplasia as the cause of
atlantoaxial instability, spinal stenosis and myelopathy: case report
and literature review], Acta Chir Orthop Traumatol Cech 79:169,
2012.
3. Bassett GS: The osteochondrodysplasias. In Morrissy R, Weinstein
S, editors: Lovell and Winter’s pediatric orthopedics, Philadelphia,
1996, Lippincott-Raven, p 214.
4. Beck M, Roubicek M, Rogers JG, et al: Heterogeneity of metatro-
pic dysplasia, Eur J Pediatr 140:231, 1983.
5. Bethem D, Winter RB, Lutter L: Disorders of the spine in dia-
strophic dwarfism, J Bone Joint Surg Am 62:529, 1980.
6. Boden SD, Kaplan FS, Fallon MD, et al: Metatropic dwarfism.
Uncoupling of endochondral and perichondral growth, J Bone Joint
Surg Am 69:174, 1987.
7. Camacho N, Krakow D, Johnykutty S, et al: Dominant TRPV4
mutations in nonlethal and lethal metatropic dysplasia, Am J Med
Genet A 152:1169, 2010.
8. Dai J, Kim OH, Cho TJ, et al: Novel and recurrent TRPV4 muta-
tions and their association with distinct phenotypes within the
TRPV4 dysplasia family, J Med Genet 47:704, 2010.
9. Johnston CE II: Scoliosis in metatropic dwarfism, Orthopedics
6:491, 1983.
10. Kozlowski K, Campbell J, Anderson B, et al: Metatropic dysplasia
and its variants (analysis of 14 cases), Australas Radiol 32:325,
1988.
11. Leet AI, Sampath JS, Scott CI Jr, et al: Cervical spinal stenosis in
metatropic dysplasia, J Pediatr Orthop 26:347, 2006.
12. Maroteaux P: Bone disease of children, Philadelphia, 1979, JB
Lippincott.
13. Maroteaux P, Spranger J, Wiedemann HR: [Metatrophic dwarf-
ism], Arch Kinderheilkd 173:211, 1966.
14. Nieves Gil A, Gonzalez Molina E, Martinez Ayucar MM, et al:
Metatropic dysplasia: a case report, Am J Perinatol 12:129,
1995.
15. Rimoin DL, Siggers DC, Lachman RS, et al: Metatropic dwarfism,
the Kniest syndrome and the pseudoachondroplastic dysplasias,
Clin Orthop Relat Res 114:70, 1976.
CHAPTER 41  Orthopaedic-Related Syndromes e571
FIGURE 41-87  A and B, Progression of
kyphoscoliosis in metatropic dwarfism (compare
with Fig. 41-85). The vertebral bodies were
extremely dysplastic and osteoporotic
(confirmed at surgery).
16. Shohat M, Lachman R, Rimoin DL: Odontoid hypoplasia with
vertebral cervical subluxation and ventriculomegaly in metatropic
dysplasia, J Pediatr 114:239, 1989.
Camptomelic Dysplasia
Camptomelic dysplasia is a severe and rare form of short-
limbed dwarfism that is sometimes fatal. Mutations in or
around the SOX9 gene are causative.11 Cases with sex
reversal, the finding of female genitalia with an XY karyo-
type, have been reported.3,6,13 The abnormal formation of
fetal cartilage is thought to be the basic defect, and defec-
tive cartilage in the tracheal rings and lower respiratory
tract may cause respiratory failure, with many patients
dying in the neonatal period.1,12 Anesthesia is challenging
due to the multiple levels of airway obstruction.11 The term
camptomelic (sometimes campomelic) refers to bowing of
the long bones, primarily the tibiae and femora, although
there are reports of bowing of the humeri, radii, and
ulnae.7,8 The bowing is usually marked and can be identified
on prenatal ultrasound examination.8 Progressive spinal
deformity is usually present as well (Fig. 41-88). Other
clinical features include a flattened face with a high fore-
head, low nasal bridge, micrognathia, cleft palate, short
palpebral fissures, and malformed or low-set ears. Occa-
sionally, there are developmental defects of the heart and
kidneys. Fatal malignant hyperthermia has been reported.2
Hydromyelia and diastematomyelia have also been
observed.9,10
The bowing of the long bones appears to be caused
by an abnormality in the formation of the cartilage
anlage during fetal development (a dyschondrogenesis).
e572 SECTION VII  Other Orthopaedic Disorders
A B
D E
Enchondral growth at the physes is normal, but diaphyseal
cylinderization is markedly abnormal. Roth and associates
suggested that these abnormalities are caused by an exog-
enous teratogen that affects the fetus transiently.12
Spinal deformity is present in most patients and has even
been reported in neonates.5 It becomes severe in early child-
hood and is often markedly progressive. Progression of the
spinal deformity results in further pulmonary compromise
and death if untreated. In a study of eight patients with
camptomelic dysplasia, Thomas and co-workers reported
major difficulties in their management.14 The average initial
kyphosis was 114 degrees, and the scoliosis was 61 degrees.
C
FIGURE 41-88  Imaging findings in
camptomelic dysplasia. A, Lateral
radiograph of the spine at birth. There
is delayed ossification of the pedicles.
B, Lateral radiograph of the leg at
birth. The fibula is short, and the foot
is in an equinovalgus position. C,
Anteroposterior radiograph of the
spine in adolescence. There is severe
kyphoscoliosis. D, Lateral tomogram of
the spine shows the severe kyphosis.
E, Lateral radiograph of the spine
following anterior strut graft fusion and
posterior in situ fusion.
Postoperative measurements showed minimal correction.
Of these patients, 50% developed pseudarthroses, and 33%
had neurologic complications. The authors recommended
noninstrumented anterior and posterior fusions with halo-
cast immobilization as the treatment of choice.
Coscia and colleagues reported significant spinal findings
in eight patients with camptomelic dysplasia.4 Late ossifica-
tion of the midthoracic pedicles was a clear diagnostic cri-
terion for the syndrome. Thoracic hyperkyphosis averaged
126 degrees, and scoliosis was 63 degrees. Three patients
had cervical kyphosis averaging 66 degrees, and one patient
became quadriplegic after a seizure. One patient had
 CHAPTER 41  Orthopaedic-Related Syndromes e573

cervical spondylolisthesis. Hypoplasia of the vertebral

Genetics
bodies was the major cause of deformity. The authors noted
that because patients with camptomelic dysplasia are sur- Ellis–van Creveld syndrome is inherited as an autosomal
viving longer than previously expected, their spinal deformi- recessive disorder. The usual cause is mutation in the
ties should be treated appropriately. Treatment is difficult, Evc/Evc2 gene, related to the sonic Hedgehog pathway.15,17
however, and is complicated by pseudarthroses and neuro-
logic deficits.
Clinical Features
Chondrodysplasia in Ellis–van Creveld syndrome results in
References
acromelic and mesomelic shortness of the limbs. The short-
Camptomelic Dysplasia ening is most prominent in the most distal aspects of the
1. Banu NA, Khatoon S, Qadir E, et al: Camptomelic dysplasia with limbs (e.g., the phalanges). The tibia and fibula are also
sex reversal, Mymensingh Med J 14:80, 2005. short, with the fibula shorter than the tibia (unlike in achon-
2. Barros A, Teixeira F, Camacho MC, et al: Campomelic dysplasia
droplasia). The short stature is primarily because of the
and malignant hyperthermia, BMJ Case Rep (Jun 9):2011,
shortness of the lower legs. The trunk appears long, but the
2011.
3. Chen SY, Lin SJ, Tsai LP, et al: Sex-reversed acampomelic campo- thorax is narrow because of short ribs. The femora and
melic dysplasia with a homozygous deletion mutation in SOX9 humeri are less involved than the tibiae. Diminished height
gene, Urology 79:908, 2012. is present at birth but becomes more apparent with subse-
4. Coscia MF, Bassett GS, Bowen JR, et al: Spinal abnormalities in quent growth (Fig. 41-89).
camptomelic dysplasia, J Pediatr Orthop 9:6, 1989. Polydactyly of the hands is a hallmark of this dysplasia
5. Dahdaleh NS, Albert GW, Hasan DM: Campomelic dysplasia: a (Fig. 41-90). The polydactyly is most often postaxial, on
rare cause of congenital spinal deformity, J Clin Neurosci 17:664, the ulnar side of the hand. The feet are affected less often.
2010. Syndactyly is seen in some cases.
6. Jakubiczka S, Schroder C, Ullmann R, et al: Translocation and
Clinically, ectodermal dysplasia is characterized by
deletion around SOX9 in a patient with acampomelic campomelic
abnormalities of the nails, hair, and teeth. The nails
dysplasia and sex reversal, Sex Dev 4:143, 2010.
7. Khajavi A, Lachman R, Rimoin D, et al: Heterogeneity in the are small, hypoplastic, and dystrophic (Fig. 41-91). The
campomelic syndromes. Long- and short-bone varieties, Radiology teeth are described as natal and are pointed, dystrophic,
120:641, 1976. or absent.6,7 The upper lip may be adherent to the
8. Khajavi A, Lachman RS, Rimoin DL, et al: Heterogeneity in the underlying gum.
campomelic syndromes: long and short bone varieties, Birth Congenital heart disease is present in approximately
Defects Orig Artic Ser 12:93, 1976. 50% of patients with Ellis–van Creveld syndrome.2 Malfor-
9. Krous HF, Turbeville DF, Altshuler GP: Campomelic syndrome— mations commonly seen in this population are single atrium,
possible role of intrauterine viral infection, Teratology 19:9,
1979.
10. Mellows HJ, Pryse-Davies J, Bennett MJ, et al: The camptomelic
syndrome in two female siblings, Clin Genet 18:137, 1980.
11. Nelson ME, Griffin GR, Innis JW, et al: Camptomelic dysplasia:
airway management in two patients and an update on clinical-
molecular correlations in the head and neck, Ann Otol Rhinol
Laryngol 120:682, 2011.
12. Roth SI, Jimenez JF, Husted S, et al: The histopathology of camp-
tomelia (bent limbs). A dyschondrogenesis, Clin Orthop Relat Res
167:152, 1982.
13. Stoeva R, Grozdanova L, Scherer G, et al: A novel SOX9 nonsense
mutation, q401x, in a case of campomelic dysplasia with XY sex
reversal, Genet Couns 22:49, 2011.
14. Thomas S, Winter RB, Lonstein JE: The treatment of progressive
kyphoscoliosis in camptomelic dysplasia, Spine 22:1330, 1997.

Chondroectodermal Dysplasia
(Ellis–van Creveld Syndrome)
This extremely rare form of dysplasia was first described by
Ellis and van Creveld in 1940.3 It is characterized by four
components—chondrodysplasia, polydactyly, ectodermal
dysplasia affecting the hair, teeth, and nails, and congenital
heart defects. This dysplasia is one of the short rib polydac-
tyly syndromes.4 As its name implies, this syndrome affects
mesodermal and ectodermal tissues. The prevalence of
Ellis–van Creveld dysplasia is 0.1/million population. Par- FIGURE 41-89  Two-year-old girl with Ellis–van Creveld syndrome.
ticularly affected are the Pennsylvania Amish, in whom the Note the shortening of the humeri and polydactyly of the right
condition occurs in 1 in 5000 births.2,9 hand.
e574 SECTION VII  Other Orthopaedic Disorders

FIGURE 41-90  A and B, Polysyndactyly

associated with Ellis–van Creveld
syndrome. There are more extra digits on A B
the ulnar side of the hand.

FIGURE 41-91  Hypoplastic dystrophic fingernails in a child with

Ellis–van Creveld syndrome.

atrial septal defects, and ventricular septal defects. Prenatal

ultrasonography can be diagnostic because the skeletal and
cardiac features can be identified in the fetus.14 FIGURE 41-92  Genu valgum results from hypoplasia of the lateral
Mental retardation has been reported in some patients proximal tibial epiphysis in Ellis–van Creveld syndrome.
with Ellis–van Creveld syndrome. CNS and renal malforma-
tions have been reported in isolated cases.10,11,16

capitate and hamate are fused (Fig. 41-93). There may be

Radiographic Findings
The proximal end of the tibia is widened and pointed. The
epiphysis of the tibia characteristically appears hypoplastic
and deficient laterally, resulting in genu valgum (Fig. 41-92).
There may be an exostosis projecting from the medial proxi-
mal tibial metaphysis.
The fingers are very short. Ossification centers of the
distal phalanges may be absent. Fusion of two or more of
the carpals is seen in about 71% of patients.13 Usually, the
accessory carpal bones accompanying the polydactyly.13
Tarsal coalitions may be present.
The femora and humeri are often bowed, the spine is
normal, the ribs are short, and the thorax is long and narrow.
The pelvis has a distinctive appearance. The iliac bones are
small, with a decrease in their vertical height. An inferior
hook may be present in the region of the triradiate cartilage.
With growth, the pelvic radiographs have a normal
appearance.

FIGURE 41-93  Carpal coalitions and distal phalangeal hypoplasia
in 4-year-old girl with Ellis–van Creveld syndrome.
Treatment
During infancy, cardiac surgery is often required to treat
congenital malformations. Excision of polydactyly of the
hands and feet can be performed following the evaluation
and treatment of heart defects.
Genu valgum develops during early childhood as a result
of the abnormal proximal tibial epiphysis and growth plate.
Orthotic treatment may delay surgery, but when the valgus
becomes symptomatic, proximal tibial osteotomy should be
performed (Fig. 41-94). Recurrence of deformity is univer-
sal, and it is wise to warn the parents of this before the
initial surgery (Fig. 41-95).5,8
The goal of surgery is complete correction of the
mechanical axis of the limb; internal rotation through the
osteotomy is required to correct the external rotation defor-
mity. In severe cases of genu valgum caused by Ellis–van
Creveld syndrome, medial femoral condylar overgrowth
contributes to the deformity. In these cases, distal femoral
osteotomy should be performed, along with proximal tibial
osteotomy to correct the extremity’s alignment. Repeat
osteotomies are necessary with further growth. As the child
nears the end of skeletal growth, combining proximal tibial
osteotomy with closure of the proximal medial tibial physis
may prevent a further recurrence. Because the lateral
tibial plateau is depressed in this syndrome, deformity
of the articular surface is an obstacle to correcting the
angular deformity and maintaining correction over time
(Fig. 41-96).12
Alignment is best achieved in some cases through gradual
correction and external fixation. Lengthening the short tibia
has been performed in this way.1
CHAPTER 41  Orthopaedic-Related Syndromes e575
FIGURE 41-94  Proximal tibial osteotomy for the treatment of
genu valgum in a 4-year-old with Ellis–van Creveld syndrome
(same patient as in Fig. 41-92).
Patellar dislocation can occur because of the genu valgum.
Surgical realignment of the quadriceps mechanism and of
the bony anatomy is the treatment of choice.
References
Chondroectodermal Dysplasia (Ellis–van Creveld Syndrome)
1. Aldegheri R: Distraction osteogenesis for lengthening of the tibia
in patients who have limb-length discrepancy or short stature,
J Bone Joint Surg Am 81:624, 1999.
2. Dugoff L, Thieme G, Hobbins JC: First trimester prenatal diag-
nosis of chondroectodermal dysplasia (Ellis-van Creveld syn-
drome) with ultrasound, Ultrasound Obstet Gynecol 17:86, 2001.
3. Ellis RWB, van Creveld S: Syndrome characterized by ectodermal
dysplasia, polydactyly, chondrodysplasia and congenital morbus
cordis: report of three cases, Arch Dis Child 15:65, 1940.
4. Erzen M, Stanescu R, Stanescu V, et al: Comparative histopathol-
ogy of the growth cartilage in short-rib polydactyly syndromes type
I and type III and in chondroectodermal dysplasia, Ann Genet
31:144, 1988.
5. Fukuda A, Kato K, Hasegawa M, et al: Recurrent knee valgus
deformity in Ellis-van Creveld syndrome, J Pediatr Orthop B
21:352, 2012.
6. Hattab FN, Yassin OM, Sasa IS: Oral manifestations of Ellis-van
Creveld syndrome: report of two siblings with unusual dental
anomalies, J Clin Pediatr Dent 22:159, 1998.
7. Himelhoch DA, Mostofi R: Oral abnormalities in the Ellis-van
Creveld syndrome: case report, Pediatr Dent 10:309, 1988.
8. Jockel JA, Reichel H, Nelitz M: Correction of knee deformity in
patients with Ellis-van Creveld syndrome: A case report and
review of the literature, Knee 19:218, 2012.
9. McKusick VA: Metaphyseal dysostosis and thin hair: a new reces-
sively inherited syndrome? Lancet 15:832, 1964.
e576 SECTION VII  Other Orthopaedic Disorders
FIGURE 41-95  A, Clinical appearance of the
girl shown in Figure 41-89 at age 11 years 6
months. B and C, Despite multiple osteotomies,
valgus persisted. Hypoplasia of the lateral tibial
epiphysis was present, as was distal femoral A B
valgus.
FIGURE 41-96  Magnetic resonance imaging scan shows severe
articular irregularities of the lateral distal femur and proximal tibia.
10. Moudgil A, Bagga A, Kamil ES, et al: Nephronophthisis associated
with Ellis-van Creveld syndrome, Pediatr Nephrol 12:20, 1998.
11. Rosemberg S, Carneiro PC, Zerbini MC, et al: Brief clinical report:
chondroectodermal dysplasia (Ellis-van Creveld) with anomalies
of CNS and urinary tract, Am J Med Genet 15:291, 1983.
12. Shibata T, Kawabata H, Yasui N, et al: Correction of knee defor-
mity in patients with Ellis-van Creveld syndrome, J Pediatr Orthop
B 8:282, 1999.
C
13. Taylor GA, Jordan CE, Dorst SK, et al: Polycarpaly and other
abnormalities of the wrist in chondroectodermal dysplasia: the
Ellis-van Creveld syndrome, Radiology 151:393, 1984.
14. Tongsong T, Chanprapaph P: Prenatal sonographic diagnosis of
Ellis-van Creveld syndrome, J Clin Ultrasound 28:38, 2000.
15. Yang C, Chen W, Chen Y, et al: Smoothened transduces Hedgehog
signal by forming a complex with Evc/Evc2, Cell Res 22:1593,
2012.
16. Zangwill KM, Boal DK, Ladda RL: Dandy-Walker malformation in
Ellis-van Creveld syndrome, Am J Med Genet 31:123, 1988.
17. Zhang Z, Bao K, He JW, et al: Identification of one novel mutation
in the EVC2 gene in a Chinese family with Ellis-van Creveld
syndrome, Gene 511:380, 2012.
Asphyxiating Thoracic Dysplasia
(Jeune Disease)
Asphyxiating thoracic dysplasia is an autosomal recessive
condition first described by Jeune and associates in 1954.15
It is characterized by hypoplasia of the chest, with a long
narrow thorax that is decreased in both the AP and trans-
verse diameters. Affected babies usually die during the neo-
natal period from respiratory insufficiency. A milder form
that does not lead to death in infancy has been described.13
A mutation of the IFT80 gene has been linked to Jeune
syndrome.5 A possibly causative genetic locus on chromo-
some 15q13 has also been reported.17
Pathology
Asphyxiating thoracic dysplasia is differentiated histologi-
cally into two types. Type 1 is characterized by patchy
distribution of endochondral ossification in the physis, an
 CHAPTER 41  Orthopaedic-Related Syndromes e577

irregular physeal-metaphyseal junction, and large islands of
poorly mineralized cartilage in the metaphysis. Type 2 is
characterized by a uniform distribution of disorganized
endochondral ossification, accompanied by advancing carti-
lage forming lattice-like meshwork in the metaphysis.23
Another syndrome, short rib–polydactyly syndrome type III
(Verma-Naumoff syndrome), is a variant of Jeune
syndrome.14
Clinical Features and Radiographic Findings
The patient’s limbs are short, and there may be associated
postaxial polydactyly. Cone epiphyses may occur in the
hands and feet, with premature fusion. The clinical features
of Jeune disease overlap with those seen in other short rib
polydactyly syndromes, such as Ellis–van Creveld syndrome
(Fig. 41-97).11,18 Prenatal diagnosis with ultrasound exami-
nation has been described.8 Findings on ultrasonography
include a thorax that is small for gestational age and short
limbs.6,21
A high rate of proximal cervical stenosis, which may
require decompression and occipital-cervical fusion, has
been noted.3 Radiographic findings classify the dysplasia
into two forms that correlate with the histologic findings.
In type I, the metaphyseal ends are irregular because of the
patchy endochondral ossification. In type II, the metaphy-
seal ends are smooth because the endochondral ossification
is more uniformly disturbed.24

B
A

FIGURE 41-97  Radiographic findings in asphyxiating thoracic dysplasia (Jeune

disease). A and B, Anteroposterior (AP) and lateral radiographs of the chest. Note
the long, narrow thoracic cage. C, AP view of the hand showing the cone
C
epiphyses of the phalanges, with premature fusion of the physes.
e578 SECTION VII  Other Orthopaedic Disorders
Treatment
Aggressive pulmonary care allows some infants with Jeune
dysplasia to survive. Restrictive lung disease because of the
small chest is universal. Rib expansion surgery using tita-
nium plates can increase the thoracic air space and improve
the patient’s function.9,10,19,22 Campbell and co-workers
devised a rib expansion device that can be lengthened incre-
mentally to elongate the thorax.4 Anecdotal reports cite
clinical successes. Gadepalli and colleagues reviewed 57
procedures for Jeune and other syndromes and were unable
to show improvement in lung function and volume.12 An
alternative approach is to divide the sternum and separate
the halves with a methylmethacrylate spacer. Only prelimi-
nary results of these procedures are available.16 Conroy and
colleagues reported using a Leibinger midface distractor to
distract the sternum gradually after splitting it horizontally.7
The surgery was done when the patient presented at 12
weeks of age with progressive respiratory failure. After a
second distraction procedure and rib expansion, he was
thriving without respiratory support at age 30 months. Betz
and associates noted that 4 of 19 children treated with an
expandable prosthetic titanium rib had died during the first
postoperative year.2 Further studies are needed to define
the role and efficacy of these modalities for treating this
difficult disease. In adolescence and young adulthood, sur-
viving patients with Jeune disease develop renal failure
because of nephronophthisis.20 Successful renal transplanta-
tion has been performed.1
References
Asphyxiating Thoracic Dysplasia (Jeune Disease)
1. Amirou M, Bourdat-Michel G, Pinel N, et al: Successful renal
transplantation in Jeune syndrome type 2, Pediatr Nephrol 12:293,
1998.
2. Betz RR, Mulcahey MJ, Ramirez N, et al: Mortality and life-
threatening events after vertical expandable prosthetic titanium rib
surgery in children with hypoplastic chest wall deformity, J Pediatr
Orthop 28:850, 2008.
3. Campbell RM Jr: Spine deformities in rare congenital syndromes:
clinical issues, Spine (Phila Pa 1976) 34:1815, 2009.
4. Campbell RM Jr, Smith MD, Mayes TC, et al: The effect of
opening wedge thoracostomy on thoracic insufficiency syndrome
associated with fused ribs and congenital scoliosis, J Bone Joint Surg
Am 86:1659, 2004.
5. Cavalcanti DP, Huber C, Sang KH, et al: Mutation in IFT80 in a
fetus with the phenotype of Verma-Naumoff provides molecular
evidence for Jeune-Verma-Naumoff dysplasia spectrum, J Med
Genet 48:88, 2011.
6. Chen CP, Lin SP, Liu FF, et al: Prenatal diagnosis of asphyxiating
thoracic dysplasia (Jeune syndrome), Am J Perinatol 13:495, 1996.
7. Conroy E, Eustace N, McCormack D: Sternoplasty and rib distrac-
tion in neonatal Jeune syndrome, J Pediatr Orthop 30:527, 2010.
8. Das BB, Nagaraj A, Fayemi A, et al: Fetal thoracic measurements
in prenatal diagnosis of Jeune syndrome, Indian J Pediatr 69:101,
2002.
9. Davis JT, Long FR, Adler BH, et al: Lateral thoracic expansion for
Jeune syndrome: evidence of rib healing and new bone formation,
Ann Thorac Surg 77:445, 2004.
10. Davis JT, Ruberg RL, Leppink DM, et al: Lateral thoracic expan-
sion for Jeune’s asphyxiating dystrophy: a new approach, Ann
Thorac Surg 60:694, 1995.
11. Franceschini P, Guala A, Vardeu MP, et al: Short rib-dysplasia
group (with/without polydactyly): report of a patient suggesting
the existence of a continuous spectrum, Am J Med Genet 59:359,
1995.
12. Gadepalli SK, Hirschl RB, Tsai WC, et al: Vertical expandable
prosthetic titanium rib device insertion: does it improve pulmo-
nary function? J Pediatr Surg 46:77, 2011.
13. Giorgi PL, Gabrielli O, Bonifazi V, et al: Mild form of Jeune syn-
drome in two sisters, Am J Med Genet 35:280, 1990.
14. Ho NC, Francomano CA, van Allen M: Jeune asphyxiating
thoracic dystrophy and short-rib polydactyly type III (Verma-
Naumoff) are variants of the same disorder, Am J Med Genet
90:310, 2000.
15. Jeune M, Carron R, Beraud C: [Polychondrodystrophy with fatal
throacic blockage], Pediatrie 9:390, 1954.
16. Kaddoura IL, Obeid MY, Mroueh SM, et al: Dynamic thoraco-
plasty for asphyxiating thoracic dystrophy, Ann Thorac Surg
72:1755, 2001.
17. Morgan NV, Bacchelli C, Gissen P, et al: A locus for asphyxiating
thoracic dystrophy, ATD, maps to chromosome 15q13, J Med
Genet 40:431, 2003.
18. Moudgil A, Bagga A, Kamil ES, et al: Nephronophthisis associated
with Ellis-van Creveld syndrome, Pediatr Nephrol 12:20, 1998.
19. Mutabagani K, Humphrey R, Helstein J, et al: The lateral thoracic
expansion for Jeune’s asphyxiating dystrophy: experience at a
single institution, Saudi Med J 24(Suppl):S33, 2003.
20. Ring E, Zobel G, Ratschek M, et al: Retrospective diagnosis of
Jeune’s syndrome in two patients with chronic renal failure, Child
Nephrol Urol 10:88, 1990.
21. Skiptunas SM, Weiner S: Early prenatal diagnosis of asphyxiating
thoracic dysplasia (Jeune’s syndrome). Value of fetal thoracic mea-
surement, J Ultrasound Med 6:41, 1987.
22. Weber TR, Kurkchubasche AG: Operative management of asphyx-
iating thoracic dystrophy after pectus repair, J Pediatr Surg 33:262,
1998.
23. Yang SS, Heidelberger KP, Brough AJ, et al: Lethal short-limbed
chondrodysplasia in early infancy, Perspect Pediatr Pathol 3:1, 1976.
24. Yang SS, Langer LO Jr, Cacciarelli A, et al: Three conditions in
neonatal asphyxiating thoracic dysplasia (Jeune) and short rib–
polydactyly syndrome spectrum: a clinicopathologic study, Am J
Med Genet Suppl 3:191, 1987.
 CHAPTER 41  Orthopaedic-Related Syndromes e579

Plate 41-1  Posterior Release of Elbow Extension Contracture

Ulnar nerve W-plasty

transferred lengthening
anteriorly of triceps muscle

Operative Technique B, The ulnar nerve is identified and mobilized medially to

protect it from injury. The intermuscular septum is
A, The patient is placed in a lateral position. A midline
exposed laterally.
incision is made on the posterior aspect of the arm, begin-
C, Left, The ulnar nerve is mobilized and transferred
ning in the middle half and extending distally to a point
anteriorly. Right, The triceps muscle is lengthened in a W
lateral to the olecranon process; the incision is then carried
fashion, leaving a long proximal tongue.
over the subcutaneous surface of the shaft of the ulna for
a distance of 5 cm. The subcutaneous tissue is divided,
and the wound flaps are mobilized.

Continued on following page

e580 SECTION VII  Other Orthopaedic Disorders

Plate 41-1  Posterior Release of Elbow Extension Contracture, cont’d

Triceps tendon
sutured to itself
to form a tube

Anterior aspect

Interval developed between

brachioradialis muscle and
pronator teres muscle

Curvilinear Brachioradialis muscle

incision in
antecubital
fossa s Pronator
teres
muscle
e
E
F

D, The triceps muscle is freed and mobilized proximally
as far as its nerve supply permits. The motor branches of
the radial nerve to the triceps enter the muscle in the
interval between the lateral and medial heads as the radial
nerve enters the musculospiral groove. The distal portion
of the detached triceps is then sutured to itself to form
a tube.
E and F, Through a curvilinear incision in the antecubital
fossa, the interval between the brachioradialis and pronator
teres is developed.
 CHAPTER 41  Orthopaedic-Related Syndromes e581

G, With an Ober tendon passer, the triceps tendon is passed

Brachio
into the anterior wound subcutaneously, superficial to the
radial nerve. Paralyzed biceps
H, With the elbow in 90 degrees of flexion and the forearm brachii muscle
in full supination, the triceps tendon is sutured to the biceps
tendon or anchored to the radial tuberosity by a suture Brachialis muscle
passed through a drill hole. The wound is closed in a routine
fashion. An above-elbow cast is applied, with the elbow in
90 degrees of flexion and full supination.

Postoperative Care
The cast is removed 4 weeks after surgery, and active
exercises are performed to develop elbow flexion. Gravity
provides extension to the elbow.

Ober tendon passer used to pass

triceps tendon into anterior wound
subcutaneously, superficial to
radial nerve
G

"Tubed" triceps tendon

pulled through slit in
biceps brachii tendon
and sutured to periosteum
of radial tuberosity

sed to pass
erior wound
ficial to

Long-arm cast applied

for 4 weeks. Elbow
in 90° flexion, forearm in
full supination.

H
 C H A P T E R 4 2 
Metabolic and
Endocrine Bone
Diseases
Chapter Outline
General Pathophysiology
Rickets
Renal Osteodystrophy
Parathyroid Disorders
Vitamin Disorders
Hypophosphatasia
Idiopathic Hyperphosphatasia
Growth Hormone Deficiency
Hypothyroidism
Idiopathic Juvenile Osteoporosis
Osteogenesis Imperfecta
General Pathophysiology
Maintenance of healthy bone in children is a multiorgan
process that involves the coordination of various hormones
and factors that affect calcium and phosphate metabolism.
Parathyroid gland, kidney, liver, intestine, and bone are the
key organs that secrete, regulate, or respond to these factors.
Calcium, phosphate, vitamin D, parathyroid hormone
(PTH), fibroblast growth factor 23 (FGF23), tissue-
nonspecific alkaline phosphatase (TNSALP), and calcium-
sensing receptor (CaSR) are some of the factors known to
affect bone metabolism. Metabolic bone disease is caused
by a dysfunction of one of the organs, such as renal failure,
or abnormality of one of the factors involved with the bone
metabolic process. Mutations of the genes that regulate
calcium and phosphate metabolism have been described
with a greater frequency because of the advancement of
genetic research. The defect or deficiency of type I collagen
chains, which are the major structural macromolecules of
the bone matrix fiber network, can also have a detrimental
effect on the function and metabolism of bone, as seen in
osteogenesis imperfecta. To understand the pathophysiol-
ogy and clinical manifestations of various metabolic bone
disorders that affect children, it is important to have a clear
understanding of how various organs, hormones, and factors
involved in calcium and phosphate metabolism interact and
affect the normal bone homeostatic process.
The body is extremely sensitive to serum calcium levels;
a disturbance in calcium balance leads to abnormal irritabil-
ity, conductivity, and contractility of the cardiovascular and
neurologic systems. Only a very small portion of the body’s
calcium is present in the bloodstream, and its level is tightly
controlled. Almost all the body’s calcium is stored in bone
e582
Harry K.W. Kim
as hydroxyapatite, which is composed of calcium and
phosphate compounds; thus, if extra calcium is needed
in the bloodstream to maintain cardiac or neurologic func-
tion, bone is the source of the required calcium, which is
released via osteoclast-mediated bone resorption. Various
factors, including PTH, regulate the activity of osteoclasts.
For healthy bone formation, normal levels of calcium and
phosphate are required, as demonstrated by hypophospha-
temic rickets, in which renal phosphate wasting produces
bone abnormalities. TNSALP activity is also important
for bone formation, as evidenced by clinical features of
hypophosphatasia.
Because of the liver and kidneys’ involvement in calcium
and vitamin D metabolism, hepatic or renal diseases can
lead to metabolic bone diseases. Serum calcium is under the
regulation of vitamin D and PTH (Fig. 42-1).63,131,132,260,384
PTH functions to increase serum calcium levels by increas-
ing osteoclastic bone resorption, renal reabsorption of
calcium in the proximal tubules, and stimulating the conver-
sion of inactive 25-hydroxyvitamin D—25(OH)D—to its
active form, 1,25(OH)2D (calcitriol). A low level of calcium
(hypocalcemia) itself also stimulates the conversion of inac-
tive form of vitamin D to its active form. The active form
of vitamin D increases the intestinal absorption of calcium
and increases renal reabsorption of phosphate. FGF23 is
also an important negative regulator of vitamin D activation
produced by bone cells. It inhibits 1α-hydroxylase activity,
which is required for vitamin D activation. FGF23 also
plays a key role in phosphate homeostasis by increasing
renal phosphate excretion, thus decreasing the serum phos-
phate level (hypophosphatemia). An increase in FGF23
activity is an important pathophysiologic component of
vitamin D–resistant rickets, which is associated with hypo-
phosphatemia and low 1,25(OH)2D activity.
Vitamin D formation and activation is a complex process
that involves the gut, skin, liver, and kidney. Ergosterol
(provitamin D) is ingested and absorbed from the small
intestine. These precursors of vitamin D must be absorbed
from the gut and undergo conversion to vitamin D2 (ergo-
calciferol) before undergoing hydroxylation to become
active. Because these precursors are fat-soluble, gastrointes-
tinal or hepatic diseases that produce steatorrhea result in
an inability to absorb vitamin D. The skin is the site of
conversion of 7-dehydrocholesterol to vitamin D3 (cholecal-
ciferol). This change occurs as a result of exposure to ultra-
violet light.
Vitamins D2 and D3 are biologically inert and must
undergo a series of hydroxylation reactions in their trans-
formation to the active form, 1,25(OH)2D. The first hy­­
droxylation takes place in the liver to produce 25(OH)D.

Hypocalcemia
PTH
Bone 1,25 vit D Renal tubule
resorption production resorption
Ca2+
GI absorption
A of Ca2+
FIGURE 42-1  A, Metabolic control of calcium metabolism. B, Vitamin D metabolism. GI, Gastrointestinal; PTH, parathyroid hormone.
The liver also produces 7-dehydrocholesterol (a provitamin
D).The second hydroxylation occurs in the kidney
via 1α-hydroxylase, which produces the active form,
1,25(OH)2D. Vitamin D activation is stimulated by hypo-
calcemia and high levels of PTH and inhibited by FGF23.
An increase in 1,25(OH)2D in turn increases FGF23 pro-
duction, which downregulates 1α-hydroxylase activity as a
negative feedback mechanism. In renal failure, the conver-
sion of inactive to active vitamin D is decreased because of
the kidney damage itself as well as an increase in FGF23
production, which is stimulated by hyperphosphatemia sec-
ondary to the renal failure.
Rickets
Nutritional Rickets
Vitamin D deficiency in the diet leads to nutritional rickets.
Although vitamin D deficiency is rare in developed coun-
tries because of vitamin D fortification, it is not absent from
these areas.25,504 Some studies show a reemerging burden of
rickets in developed countries.41,454 Certain populations are
at risk, including premature infants, infants with prolonged
breast feeding, children on a vegetarian diet, black children,
and immigrant populations from the Indian subcontinent,
Africa, and the Middle East.*
An increased frequency of nutritional rickets in the
United States in children with dark skin pigmentation who
are breast-fed past 6 months of age without vitamin D
supplementation has been reported.261,417,429,494,559 In the
developed countries, nutritional rickets is also seen in
patients with celiac or hepatic disease, which affects
vitamin D absorption from the gut.231,276,368,383 Children with
nutritional rickets are usually first seen between the ages
of 6 months and 3 years. Initial findings are listlessness,
periarticular swelling, or angular deformities. Hypocalcemic
*References 41, 123, 146, 250, 280, 454, 466.
CHAPTER 42  Metabolic and Endocrine Bone Diseases e583
Ergosterol 7-dehydrocholesterol
Skin
UV light
Calciferol (vit D2)
Cholecalciferol (vit D3)
Liver
25-hydroxy vit D
GI Ca2+
absorption
1,25 vit D Kidney
production Renal
tubule Ca2+
1,25-dihydroxy vit D
Negative resorption
feedback
24,25-dihydroxy vit D
B Bone
seizure is also a common presentation during the first 2
years of life.454
In the early twentieth century, Hess used a trial of cod
liver oil to treat 65 infants with rickets and found that the
rickets resolved in 92% of the infants during a 6-month
course of treatment.230a This led to the development of the
first rickets clinic in 1917.429 Mellanby350 and Park,397 in the
mid-1920s, were the first to suggest that rickets could be
prevented by adequate vitamin D intake. Since that time,
milk and dairy products have been fortified with vitamin D.
Thus it is only in cases of malnutrition and unusual dietary
practices that vitamin D deficiency rickets is seen.
Pathology
In rickets, the primary disturbance is failure of mineraliza-
tion of cartilage and osteoid tissue, which decreases longi-
tudinal bone growth and weakens the mechanical properties
of tubular bone.254,325,393,398,507 Thus the pathologic manifes-
tations of the disease are most noticeable around growth
plates and along long bones. Normal longitudinal growth of
bone is the result of endochondral ossification. The key
elements of the process are proliferation of chondrocytes in
columns (zone of proliferation), cellular maturation to
become hypertrophic chondrocytes, calcification of the car-
tilage matrix (zone of provisional calcification), vascular
invasion of the terminal hypertrophic chondrocytes, and
deposition of new bone. In rickets, failure of deposition of
calcium along the matrix of the maturing chondrocyte
columns is observed, along with a disorderly invasion of
cartilage by blood vessels, lack of resorption at the zone of
provisional calcification, and consequently increased thick-
ness of the physis (Fig. 42-2). The chondrocytes proliferate
normally, but the normal process of endochondral ossifica-
tion fails to take place.
Osteoblastic activity on the endosteal and periosteal
surfaces of bone is normal, and abundant osteoid (nonmin-
eralized bone matrix) is formed. With defective mineraliza-
tion of osteoid, osteoclastic resorption of the osteoid
does not take place. However, increased resorption of the
e584 SECTION VII  Other Orthopaedic Disorders
mineralized bone because of secondary hyperparathyroid-
ism occurs. Hence, the overly abundant osteoid produced
by normal osteoblasts generates widened osteoid seams.
Because of a lack of resorption of osteoids, the osteoid islets
may even persist down into the diaphysis.
In rickets, an abnormality in the arrangement of bundles
of collagen fibers in compact bone also exists. Instead of
running parallel to the haversian canals, they course perpen-
dicularly and are biomechanically inferior.154 Grossly, the
rachitic bone is soft and becomes misshapen under the force
of weight bearing. If the disease remains untreated, angular
deformities of the lower extremities and deformities of the
thoracic cage and pelvis may develop.
FIGURE 42-2  Histologic appearance of rickets. A photomicrograph
through the epiphyseal-metaphyseal junction shows uncalcified
osteoid tissue, failure of deposition of calcium along the mature
cartilage cell columns, and disorderly invasion of cartilage by
blood vessels (×25, H & E).
Table 42-1  Biochemical Abnormalities in Rickets
Type of Rickets Calcium Phosphate
Nutritional Nl Nl↓
Vitamin D–resistant (XLH, RTA, Nl ↓ ↑
Fanconi, oncogenic)
Vitamin D–dependent type I ↓ ↓
(inability to hydroxylate)
Vitamin D–dependent type II ↓ ↓
(receptor insensitivity)
Renal osteodystrophy Nl↓ ↑ ↑
Nl, Normal; PTH, parathyroid hormone; RTA, renal tubular acidosis; XLH, X-linked hypophosphatemia.
After treatment of rickets with vitamin D, calcium
absorption increases and calcification of the cartilage
columns and osteoid occurs. Osteoclasts resorb the calcified
cartilage, and normal remodeling and improvement of bone
follows.28
Laboratory Findings
Vitamin D deficiency results in an inability to absorb calcium
and phosphorus from the gut. Vitamin D status is best
evaluated by measuring the level of serum 25(OH)D, which
reflects the degree of deficiency. In contrast, the serum level
of 1,25(OH)2D is not helpful because it may be normal in
most patients with vitamin D deficiency. The PTH level is
elevated in response to hypocalcemia (secondary hyperpara-
thyroidism), which attempts to ameliorate the serum
calcium level. Serum calcium levels are normal to mildly
decreased, but phosphate levels are low (hypophosphate-
mia) and alkaline phosphatase levels are high (Table
42-1).203,317,384,428 Urinary excretion of calcium is low
because of enhanced renal tubular reabsorption.
Clinical Features
The clinical features of nutritional rickets depend on the
severity of the disease and may be subtle. Infants demon-
strate generalized muscular weakness, lethargy, and irrita­
bility.487 Sitting, standing, and walking are delayed. The
abdomen may appear protuberant.
Early bone manifestations include a slight thickening of
the ankles, knees, and wrists. Beading of the ribs, referred
to as the rachitic rosary, is caused by enlargement of the
costochondral junctions. As the disease continues, the pull
of the diaphragm on the ribs produces a horizontal depres-
sion known as Harrison’s groove. Short stature results from
insufficient longitudinal growth. Pectus carinatum is caused
by forward projection of the sternum. Closure of the fon-
tanelles is delayed and the sutures are thickened, which
leads to a skull appearance described as resembling hot cross
buns. The dentition is affected, with delays in appearance
of the teeth and defects in the enamel.
As the child begins standing and walking, the softened
long bones bow, and it is at this time that the child is usually
brought to the orthopaedic surgeon for a diagnosis. In tod-
dlers, bowleg, or genu varum, is one of the most common
Biochemical Abnormality
Alkaline 25-(OH) 1,25-(OH)2
Phosphatase PTH vitamin D vitamin D
↑ ↑ ↓↓ ↓
Nl Nl Nl
↑ ↑ ↑↑ ↓↓
↑ ↑ Nl↑↑ ↑↑↑↑
↑↑ Nl ↓↓

initial signs.57 In older children, genu valgum and coxa vara
may be initial features. Stress fractures of the long bones
may be present.402 Children may be seen acutely with unex-
plained fractures suggesting child abuse, tetany, and hypo-
calcemic seizures.62 Later, kyphoscoliosis may develop.
Radiographic Findings
Failure of the physeal cartilage to calcify and undergo
normal endochondral ossification leads to an increased
thickness of the physis and a hazy appearance of the provi-
sional zone of calcification.419,520,532 The widened growth
plate is particularly suspect for rickets, which differentiates
this rare condition from the more common physiologic
angular deformities of the lower extremities (Fig. 42-3).319
The metaphysis abutting the physis is brushlike in appear-
ance, with islands or columns of cartilage persisting well
into the metaphysis (Fig. 42-4). The metaphysis also appears
cupped or flared. The bones have an osteopenic appearance
overall, with thinning of the cortices.448 The bony trabeculae
are indistinct. Looser’s lines, or radiolucent transverse bands
(pseudofracture lines) that extend across the axes of the
long bones, are evident on radiographs in 20% of patients
with rickets.519
As the rickets continues, deformities of the long bones,
ribs, pelvis, and spine develop. Thoracolumbar kyphosis—
rachitic cat back—may be apparent on radiographs.
C
FIGURE 42-3  Radiographs obtained in a 1-year-old black girl with nutritional rickets. A, Forearm. B, Knee. C, Pelvis. All physes are
widened and the metaphyses are indistinct. Cupping is most prominent in the metaphysis of the distal radius and ulna and at the knee.
See also Figure 42-6.
CHAPTER 42  Metabolic and Endocrine Bone Diseases e585
Although the diagnosis of nutritional rickets should be
made on review of plain films, bone scintigraphy has been
used in neonates to confirm the diagnosis and pick up areas
of fractures. Increased uptake is seen.484 With treatment,
mineralization occurs and radiographic abnormalities rapidly
become normal. The physis thins, and bone density increases
(Fig. 42-5).507,508
Treatment
Rickets is treated by the administration of vitamin D under
the supervision of a pediatric specialist in metabolic bone
disease. The usual course of treatment is 6 to 10 weeks.
After 2 to 4 weeks, radiographs show improvement in min-
eralization. Tetracycline labeling shows response to therapy,
with areas of new mineralization being labeled with the
drug. Tetracycline should not be used in young children,
however, because of staining of the teeth.438 If the child
does not respond to vitamin D therapy, vitamin D–resistant
rickets should be suspected. Because residual deformity is
rare after medical treatment of nutritional rickets, there is
no specific orthopaedic treatment of nutritional rickets.
Rickets of Prematurity
Very premature infants are particularly at risk for the devel-
opment of nutritional rickets.67,85,190,393 Risk factors include
e586 SECTION VII  Other Orthopaedic Disorders
A B
FIGURE 42-4  A, Hazy metaphysis with cupping in a young boy with rickets. B, Accentuated genu varum is present. C, With vitamin D
replacement therapy, the bony lesions healed in 6 months.
FIGURE 42-5  Radiographic appearance of the wrist of the girl
whose radiographs (rickets) appear in Figure 42-3 after 4 months
of treatment with vitamin D. The osteopenia has resolved and the
physis is narrowed.
hepatobiliary disease, total parenteral nutrition, diuretic
therapy, physical therapy with passive motion, and chest
percussion therapy. These infants are seen with pathologic
fractures in the neonatal intensive care unit. With treatment
of the rickets, the fractures heal readily, with minimal other
C
treatment required.125 Resolution of the rachitic changes
and fractures occurs as the infants gain weight.274
Drug-Induced Rickets
Certain antiepileptic medications have been known to
produce rachitic changes in children.19,119,364 Seizure medi-
cations that affect the liver may induce the cytochrome
P-450 microsomal enzyme system and decrease levels of
vitamin D. Hypocalcemia develops, which can aggravate
the seizure disorder. Treatment with vitamin D is very
helpful. The condition should be suspected in neurologic
patients with seizures who begin sustaining frequent
fractures.296,297
Vitamin D–Resistant Rickets
Vitamin D–resistant rickets, also known as hereditary or
familial hypophosphatemic rickets, encompasses a group of
disorders in which normal dietary intake of vitamin D is
insufficient to achieve normal mineralization of bone
because of pathologic renal phosphate wasting.374 Heredi-
tary hypophosphatemic rickets can be inherited as an
X-linked dominant, autosomal dominant, or autosomal
recessive form. X-linked dominant disease is the most fre-
quent form of hereditary rickets, with an incidence of 1 in
20,000, and is considered the prototypic disorder of renal
phosphate wasting. In 1995, a phosphate-regulating gene
with homologies to endopeptidases on the X-chromosome
(PHEX) was identified as the cause of X-linked dominant
disease. The PHEX mutation produces elevated levels of
FGF23 by a yet unidentified mechanism. FGF23 is a circu-
lating hormone produced by osteoblasts and osteocytes that
reduces renal phosphate reabsorption and the conversion
of 25(OH)D to its active form, 1,25(OH)2D, by suppress-
ing renal 25-hydroxy-1α-hydroxylase activity. Inhibition

of 1α-hydroxylase prevents the normal compensatory
increase in active vitamin D formation associated with
hypophosphatemia. Thus increased FGF23 activity leads to
increased renal phosphate excretion, hypophosphatemia,
short stature, long bone bowing, and other radiographic
features of rickets.
In autosomal dominant form of hereditary rickets, muta-
tions in FGF23 have been identified that prevent the deg-
radation of this hormone and produce renal phosphate
wasting. In the autosomal recessive form of hereditary
rickets, mutations in the dentin matrix protein 1 (DMP1)
gene and ENPP1 have been reported. DMP1 is an important
regulatory protein produced by osteoblasts and osteocytes
that regulates the growth and development of dentin, bone,
and cartilage and also plays a role in matrix mineralization.
Thus DMP1 mutations impair osteocyte maturation and
bone mineralization. DMP1 mutations also produce ele-
vated levels of FGF23 through an undefined mechanism,
leading to phosphaturia and hypophosphatemia. Other rare
forms of hereditary rickets include hereditary hypophos-
phatemic rickets with hypercalciuria (autosomal recessive
inheritance with mutation in SLC34A3) and autosomal
recessive Fanconi syndrome caused by SLC34A1 mutation.
In renal tubular acidosis, the kidney excretes fixed base and
wastes bicarbonate, which also leads to wasting of calcium
and sodium. The alkaline urine results in the precipitation
of calcium and severe renal calcinosis.72,367
Laboratory Findings
Laboratory studies reveal normal or almost normal levels
of calcium. The serum phosphate concentration is signifi-
cantly decreased,319 whereas the 1,25(OH)2D level may be
inappropriately low in response to the hypophosphatemia.
The PTH level is normal. Urine assays for phosphate dem-
onstrate an increased concentration of phosphate in the
A B
CHAPTER 42  Metabolic and Endocrine Bone Diseases e587
urine. The serum alkaline phosphatase concentration is
elevated but not to the levels seen with nutritional rickets
(see Table 42-1).
Clinical Features
The disease usually becomes apparent at a slightly older age
than nutritional rickets, with most patients becoming symp-
tomatic between 1 and 2 years of age. Severe hypophospha-
temic rickets can be recognized in early infancy, and when
the disease is suspected because of the family history, labo-
ratory determination of phosphorus concentrations can lead
to the diagnosis in infants as young as 3 months.357 The usual
initial complaints are delayed walking and angular deformi-
ties of the lower extremities. In contrast to what is seen in
nutritional rickets, systemic manifestations such as irritabil-
ity and apathy are minimal.
Physical findings in hypophosphatemic rickets include
skeletal deformities, which resemble those seen in nutri-
tional rickets but, because of the chronicity of the disease,
become much more severe. Once affected children begin
to walk, genu varum develops, although genu valgum may
occur in some children (Fig. 42-6). Periarticular enlarge-
ment is present as a result of widening of the physes and
metaphyses. The rachitic rosary may also occur.
Short stature is a feature of hypophosphatemic rickets.
Height is usually 2 standard deviations (SDs) below the
mean for age in these patients.518
Radiographic Findings
The radiographic changes are the same as those seen in
nutritional rickets and include physeal widening and indis-
tinct osteopenic metaphyses. In the lower extremities, genu
varum is obvious, and the distal femoral and proximal tibial
physes are particularly widened medially (Fig. 42-7). Coxa
vara is present, and there may be general anterior and lateral
FIGURE 42-6  A, Unilateral genu
varum in a 12-year-old child with
poorly controlled vitamin D–resistant
rickets. B, Same child at 15 years
of age after right medial
hemiepiphysiodesis of the femur.
Left genu varum is now apparent.
e588 SECTION VII  Other Orthopaedic Disorders
FIGURE 42-7  A and B, Anteroposterior
radiographs of the left and right lower
extremities of a standing 7-year-old child
with familial hypophosphatemic rickets.
Severe genu varum and anterolateral
bowing of the femur are evident. The
distal femoral and proximal tibial physes are
widened medially. See Figures 42-8 A B
and 42-9.
bowing of the entire femur. The varus of the tibia is also
generalized, not only present proximally but also producing
varus angulation of the ankle.
The upper extremities are involved as well, but to a
lesser degree because of absence of the influence of weight
bearing (Fig. 42-8).
Treatment
Medical Treatment
The medical treatment of hypophosphatemic rickets is
best managed by a pediatric nephrologist with expertise
in metabolic bone disease. The usual treatment consists
of oral replacement of phosphorus in large doses and
the administration of an active form of vitamin D, calcitriol
or alfacalcidol.86,324,437 Analogues of vitamin D3 (1,25-
dihydroxyvitamin D3) are several hundred times more
potent than the original form of vitamin D in treating hered-
itary rickets.188,416,530 The therapeutic target of medical
therapy should not be to normalize the serum phosphate
level because achieving normalization may not be a practical
goal and may lead to overmedication and greater side
effects. Focus should be on improving the skeletal defor-
mity, height, and physeal function. In general, growth and
skeletal deformities improve with medical therapy. Initia-
tion of therapy in infancy has a greater impact on height but
does not completely normalize skeletal development.313
Nephrocalcinosis is a significant complication of medical
treatment.522 In one study, renal calcinosis was present in
79% of treated children with hypophosphatemic rickets,
and the severity of the calcinosis correlated with the dose
of phosphorus.552 Because nephrocalcinosis is a significant
complication, the decision whether to offer treatment to
children with hypophosphatemic rickets has become
controversial.216,290 Studies have shown that longitudinal
growth is greater in children who undergo vitamin D
treatment.309,491
Treatment of children with hypophosphatemic rickets
with growth hormone has been shown to increase height
and have beneficial effects on bone density and phosphate
retention.473 Preliminary studies reported that the adminis-
tration of growth hormone with vitamin D increases the
serum phosphate concentration and may reduce the inci-
dence of nephrocalcinosis.401
Orthopaedic Treatment
The orthotic management of vitamin D–resistant rickets has
not been efficacious. If patients are experiencing increasing
pain or difficulty walking, surgical correction of angular
deformities should be performed. It is important to work
closely with the nephrologist or endocrinologist who is man-
aging the medical therapy because calcium levels can sud-
denly increase in a patient who is immobilized after surgery.
Discontinuation of vitamin D before surgery should be
discussed.
The deformity most commonly seen in patients with
hypophosphatemic rickets is a gradual anterolateral bowing
of the femur, combined with tibia vara. Multilevel osteot-
omy is generally required to satisfactorily correct the
mechanical axis of the limb (Fig. 42-9). The mechanical axis
should be mildly overcorrected at surgery. The suggested
fixation varies among reports. External fixation allows fine
tuning of the alignment postoperatively, when the patient
is able to stand (Fig. 42-10).259 Others advocate the use of
intramedullary fixation or plating (Fig. 42-11).167,463 Regard-
less of the type of fixation used, careful preoperative
 CHAPTER 42  Metabolic and Endocrine Bone Diseases e589

FIGURE 42-8  Physeal widening and metaphyseal cupping of the distal end of the radius and ulna in a 7-year-old child (same as in
Fig. 42-7) with vitamin D–resistant rickets.

A B
FIGURE 42-9  Postoperative radiographs of the child whose imaging findings are shown in Figures 42-7 and 42-8. A, Appearance after
distal femoral, proximal tibial, and distal tibial osteotomies for treatment of genu varum. B, Varus is recurring 1 year after surgery.
e590 SECTION VII  Other Orthopaedic Disorders

A B C
FIGURE 42-10  A, Clinical appearance of a 13-year-old girl with severe genu varum secondary to vitamin D–resistant rickets. Calluses on
the knees were caused by crawling because of knee pain. B, Treatment consisted of distal femoral, proximal tibial, and distal tibial
corticotomies and gradual correction with the Ilizarov device. Surgery on the two legs was staged because of the extent of the frame.
C, Clinical appearance of the lower extremities at the end of treatment.

A B C
FIGURE 42-11  A, Coxa vara and genu varum in a 5-year-old boy with vitamin D–resistant rickets. B, Postoperative radiograph obtained
after corrective osteotomy with plate fixation of the proximal femora and osteotomy with K-wire fixation of the proximal tibiae.
C, Alignment remained satisfactory at 2-year follow-up.

planning of the surgical treatment of these multiplanar
deformities is crucial to restoring alignment.
Recurrent deformity is a common sequela of osteotomies
in patients with hypophosphatemic rickets.167,463 Younger
patients have a higher risk of recurrence.309 For this reason,
milder deformities should not be corrected in early child-
hood. Some children have severe varus at a very young age
that leads to thrust during gait. When gait is compromised
or symptoms or pain is present, osteotomy should be
performed and the alignment monitored for recurrent
deformity.
Spinal deformity may be seen in patients with hypophos-
phatemic rickets. Kyphoscoliosis, Arnold-Chiari malforma-
tions, and spinal stenosis have all been described in patients
with vitamin D–resistant rickets.84,584
Adults with hypophosphatemic rickets are prone to the
development of arthritis. Degradation of articular cartilage
resembling osteochondritis dissecans has been described.
Joint stiffness and bone pain are common complaints.167
Tumor-Related Hypophosphatemic Rickets
An association between benign and malignant tumors and
hypophosphatemic rickets has been described, termed
oncogenic hypophosphatemic osteomalacia277,278,315,345,462
Conditions such as neurofibromatosis and fibrous dysplasia
produce rickets on rare occasion.334,476 Osteoblastoma,
hemangiopericytoma of bone, and skin tumors have pro-
duced rachitic changes in bone by disrupting the renal
tubular resorption of phosphate.218,295 Certain tumors have
been found to secrete phosphatonins, such as FGF23, that
result in phosphaturia.288 Oncogenic rickets should be sus-
pected in older children with hypophosphatemic rickets
because the true genetic form is generally apparent by 2
years of age. The rachitic changes resolve with excision of
the tumor.22,399,476
Renal Osteodystrophy
As the rate of successful treatment of renal failure in chil-
dren with kidney transplants has increased, the prevalence
of renal osteodystrophy has risen. Manifestations of renal
osteodystrophy are present in 66% to 79% of children with
renal failure.165,240 Children in whom renal disease develops
in infancy or early childhood are more likely to have osteo-
dystrophy than those who are older when the renal disease
develops.240 Renal failure in children is caused by diseases
such as chronic pyelonephritis, congenital abnormalities,
and polycystic kidney disease. Renal osteodystrophy is
more common in renal disease secondary to congenital or
hereditary conditions than in acquired renal failure. Renal
osteodystrophy is distinctly different from nutritional or
hypophosphatemic rickets.318 It is often driven by the pres-
ence of secondary hyperparathyroidism, which leads to acti-
vation of osteoclasts and resorption of bone. This type of
bone involvement is termed high-turnover disease.
With improved control of hyperparathyroidism, another
form of osteodystrophy, termed low-turnover disease, has
been recognized. This adynamic disorder has been attrib-
uted to the use of high doses of exogenous calcium as
phosphate-binding agents or during dialysis and to
CHAPTER 42  Metabolic and Endocrine Bone Diseases e591
aggressive calcitriol therapy. Parathyroidectomy may also
contribute to this syndrome.480,481 In one report, 60% of
patients with chronic renal disease had a low-turnover dis-
order, whereas 40% had high-turnover osteitis fibrosa
cystica.183 Thus children with renal failure are at risk for
both types of metabolic bone disorder.61 Patients with
slowly progressive forms of renal disease such as tubuloin-
terstitial disease are at risk for the hyperparathyroid, high-
turnover form of disease. Those with more rapidly
progressive diseases such as the glomerular syndromes are
more likely to have an adynamic metabolism.583 It is impor-
tant to note that the adynamic form may be present with
a high PTH level.183
Pathophysiology
The pathophysiology of high-turnover renal osteodystrophy
begins with the inability of the damaged glomerulus to
excrete phosphorus, which results in hyperphosphate-
mia.318,319,395 Furthermore, advancing loss of nephrons and
increased FGF23 levels decrease the production of dihy-
droxyvitamin D from the kidney. Calcium absorption from
the small intestine is diminished in the absence of vitamin
D. The serum calcium level is also diminished by the
physiochemical binding of calcium to phosphate. Resulting
hypocalcemia triggers the release of PTH, which increases
osteoclast-mediated bone resorption in an attempt to nor-
malize the serum calcium level.516 The hyperphosphatemia
worsens with the release of minerals from bones, thereby
leading to a cycle of bone resorption. PTH acts directly to
stimulate osteoclast activity, which worsens the bony
changes and leads to osteitis fibrosa.
High levels of serum phosphate are universal in renal
failure. In the setting of elevated phosphate levels, calcium
may precipitate out and lead to ectopic calcification in
tissues. The usual areas for ectopic calcification are the
corneas and conjunctivae, skin, blood vessels, and periar-
ticular soft tissues.49,50,314,395
Pathology
Features of rickets and hyperparathyroidism are present in
renal osteodystrophy (Fig. 42-12).516 The rachitic changes
consist of failure to replace physeal chondrocytes by endo-
chondral ossification. Physeal cartilage persists into the
metaphysis. The physis is widened, and the zone of provi-
sional calcification is irregular as a result of the lack of
endochondral ossification occurring at the physis. Bony tra-
beculae have abundant osteoid and widened osteoid seams.
The histologic features of hyperparathyroidism include
osteoclastic resorption of bone. Marrow is replaced by
hyperplastic fibrous tissue. Patchy formation of new bone
leads to areas of osteosclerosis, present in 20% of patients
with renal osteodystrophy.
Laboratory Findings
The blood urea nitrogen level is high, as is the serum creati-
nine concentration. Levels of serum phosphate, alkaline
phosphatase, and PTH are elevated. The serum calcium
concentration is almost always low, as is the albumin level.
Acidosis is present, and vitamin D levels are decreased
(see Table 42-1).
Bone biopsy may be necessary for accurate diagnosis and
can help guide treatment.171,337
e592 SECTION VII  Other Orthopaedic Disorders

A B
FIGURE 42-12  Histologic findings of osteodystrophy secondary to chronic renal insufficiency. A, Photomicrograph of a section through
the widened physis showing extension of cartilage cells into the metaphysis (×25, ••). B, Higher magnification of the same area (×100,
H & E). Note the uncalcified osteoid tissue and replacement of normal fatty bone marrow by hyperplastic fibrous tissue.

Clinical Features In severe and prolonged renal failure, peculiar, aggressive-

Children with renal osteodystrophy resemble those with
rickets.17 They are short for their age,215,240 and their bones
are fragile.396 Because of the effects of weight bearing, lower
extremity involvement is more severe than upper extremity
involvement. Patients may complain of bone pain, and frac-
tures occur easily. Skeletal deformities may consist of genu
valgum, periarticular enlargement of the long bones, and
slipped capital femoral epiphysis (SCFE).37,202,222,307,343,496
Gait may be abnormal because of muscular weakness, and
a Trendelenburg gait is present in patients with SCFE.
Enlargement of the costochondral cartilage may produce a
rachitic rosary, as in nutritional rickets.
Radiographic Findings
Generalized osteopenia is notable, with thinning of the
cortices and indistinct bony trabeculae.15,129,344,560 Overall,
the bone looks blurry, like ground glass. The skull takes
on a salt and pepper appearance because of the coarse
granular pattern. The physes are increased in thickness, and
the provisional zone of calcification looks uncalcified and
indistinct (Fig. 42-13).208,240 Cupping of the physes is not
present, unlike the case in nutritional rickets.
Changes of hyperparathyroidism develop with time.528
SCFE may be seen, even in young patients (Fig. 42-14).69
The terminal tufts of the distal phalanges of the fingers
resorb, as do the lateral end of the clavicle and the symphy-
sis pubis.64,186,446,447 Subperiosteal resorption also occurs in
the metacarpals and ulna.278
Osteosclerosis, when present, is most common at the
base of the skull and in the vertebrae.224,285 The horizontal
striped appearance of the spine is called a rugger jersey
spine.
appearing lytic areas may develop within the long bones,
termed brown tumors. The surrounding cortex is thinned
and then expands. The margins of a brown tumor are not
well defined. Pathologic fracture may result. Radiographi-
cally, these lesions mimic malignancy. They are well visual-
ized by magnetic resonance imaging (MRI).388
Because many patients with renal failure, and all patients
who have undergone kidney transplantation, are treated
with steroids, the typical skeletal abnormalities seen with
chronic steroid use may develop. Corticosteroid-associated
osteonecrosis is common and develops most frequently in
the femoral heads (Fig. 42-15).
Treatment
Medical Treatment
Treatment of the underlying renal disease is of primary
importance. Dialysis and transplantation are extending the
life span of these patients. Medical treatment of osteodys-
trophy starts with the prescription of vitamin D.346,450,479
Because the abnormal kidney cannot participate in the
hydroxylation of provitamin D, the active 1,25(OH)2D
form is given.363 Serum calcium levels are closely monitored
because too much calcium leads to ectopic calcification. The
use of high-dose pulsed IV, intraperitoneal, and oral cal-
citriol therapy has significantly decreased serum PTH levels
and retarded the progression of osteitis fibrosa.16,482 Treat-
ment of acidosis with sodium bicarbonate is also important
in improving the metabolic bone disease. Phosphate-binding
agents have been administered for the management of
hyperphosphatemia, but their use has been falling out of
favor because of problems with aluminum toxicity, which

A B
FIGURE 42-13  Osteodystrophy secondary to
chronic renal insufficiency in a young girl with
progressive slipped capital femoral epiphyses.
Anteroposterior (A) and lateral (B) radiographs
of both ankles at the age of 12 years showed
increased thickness of the physes and
irregularity of the metaphysis at the zone of
provisional calcification. C, Lateral view of the
skull showing a ground-glass appearance. Note
C
the absence of lamina dura of the teeth.
can lead to encephalopathy and worsening of the osteoma-
lacia and osteodystrophy.33,346,391 Bone biopsy is useful in
monitoring the response to therapy and surveillance for
such complications.316 Aluminum toxicity is treated by
administering aluminum-chelating agents.
Decreased growth is a significant problem for a child
with renal insufficiency, probably because of disturbances in
the growth hormone–insulin-like growth factor I axis.
Administration of recombinant human growth hormone can
restore growth, thus making it possible to achieve normal
or improved adult height.206,215,342,347,480 Growth hormone
biomechanically weakens the physis, so vigilance on the part
of the treating physician for the development of SCFE or
physiolysis must be maintained.
In renal osteodystrophy that is recalcitrant to medical
treatment, parathyroidectomy may play a role in control of
the bony disease.155
Orthopaedic Treatment
Patients with renal osteodystrophy are referred to the
orthopaedic surgeon for the treatment of three problems:
CHAPTER 42  Metabolic and Endocrine Bone Diseases e593
(1) angular deformity of the lower extremities; (2) SCFE;
and (3) avascular necrosis.91 In the surgical correction of any
of the orthopaedic deformities in renal osteodystrophy, the
hazards and complications should be carefully weighed
because of the increased risks in this patient population.
Anemia, hypertension, bleeding tendencies, and electrolyte
imbalances are all present in patients with renal failure.
The risk for infection is also increased, particularly if the
patient has received a transplant and is undergoing immu-
nosuppressive therapy. Despite these potential risks, an
osteotomy can be performed safely with careful coordina-
tion of surgery and perioperative management with the
pediatric nephrologist.
Angular Deformity. Angular deformity occurs in renal
osteodystrophy because the bone is soft, undermineralized,
and prone to bend with weight bearing. Genu valgum is the
most common deformity,267 but genu varum may occur in
some patients. It has been proposed that if the onset of
renal osteodystrophy occurs before 4 years of age, varus
deformity may develop because the normal alignment of the
e594 SECTION VII  Other Orthopaedic Disorders
A B
C
leg is in mild varus, which then is accentuated as the bone
becomes weak. Similarly, older children are predisposed to
the development of genu valgum because of the normal
valgus alignment of the lower extremity.128 Valgus at the
ankle may accompany the genu valgum.
Some milder deformities will correct with medical treat-
ment of the renal osteodystrophy.61 Deformities do not
respond well to bracing. If the patient is symptomatic and
has had optimal medical management of the osteodystrophy
without resolution of deformity, an osteotomy is per-
formed.91 Preoperative assessment of the deformity with
long-leg standing radiography will permit the surgeon to
decide the location of the deformity and how many oste-
otomies will be needed to correct the mechanical axis most
effectively. Usually the distal end of the femur is the site
of greatest deformity, but some patients also need a proxi-
mal tibial osteotomy. Internal or external fixation may be
used. Application of the Ilizarov device in metabolic bone
disease has met with success, although healing was
delayed.517 Recurrence is common in patients with continu-
ing metabolic disease, so medical treatment should be opti-
mized before osteotomy whenever possible. Elevation of
FIGURE 42-14  A, Anteroposterior (AP) radiograph of
a 7-year-old boy with hip pain. Slipped capital femoral
epiphysis is present, osteopenia is obvious, and the
physes are wide. AP (B) and lateral (C) radiographs
of the hips after treatment of renal failure with dialysis.
The proximal femoral physes have narrowed.
the serum alkaline phosphatase concentration above
500 U/L is a good marker of ongoing metabolic bone
disease.128,390 A bone biopsy may be needed to establish that
the bone is metabolically healthy before osteotomy.128
Milder deformity may respond to physeal stapling.390
A subset of patients with genu valgum shows evidence
of a proximal tibial growth disturbance in the form of a
physeal abnormality in the proximal lateral tibial physis.
Oppenheim and associates compared the physeal widening
of the lateral physis with that seen in the medial physis in
Blount disease.392 These patients benefit from tibial oste-
otomy for realignment.
Slipped Capital Femoral Epiphysis. SCFE is associated
with renal osteodystrophy, but the clinical picture of a
patient with renal slips differs from the usual clinical sce-
nario.38,114,202,381 Often the patients are younger than those
with idiopathic SCFE, and obesity is not commonly seen.
Bilaterality is extremely common. Radiographs show more
physeal widening than is usual in SCFE, and osteopenia and
blurring of the metaphysis may be obvious.343 The ortho-
paedic surgeon should be aware of the radiographic

FIGURE 42-15  Avascular necrosis of the left hip in a 7-year-old
boy after renal transplantation and steroid therapy.
A B
C D
FIGURE 42-16  A and B, Valgus slipped capital femoral epiphysis in an 11-year-old child after renal transplantation and hypothyroidism.
C and D, In situ fixation was performed.
CHAPTER 42  Metabolic and Endocrine Bone Diseases e595
appearance of renal SCFE because, on rare occasion, patients
may seek treatment of hip or groin pain while being unaware
of their renal disease. In such cases it is up to the orthopae-
dic surgeon to make the diagnosis of renal osteodystrophy,
and promptly refer the child to a nephrologist for appropri-
ate treatment.
There are inherent problems in the surgical treatment of
SCFE in renal osteodystrophy. The goal of routine treat-
ment of SCFE is to stop proximal femoral physeal growth
and thus heal the slip. This may not be a desirable goal in
a very young child with renal osteodystrophy. Also, physeal
healing may be difficult to achieve in the presence of osteitis
fibrosa and metabolic imbalance. Fortunately, in many
patients, the hip pain resolves and the proximal femoral
physis narrows with medical treatment of the renal osteo-
dystrophy, so surgery is not necessary for every patient with
renal SCFE.307,496 If the slip is displaced or if symptoms
persist despite good medical control of the osteodystrophy,
surgery may be needed. Fixation with special partially
threaded screws to achieve stability by crossing the physis
but not closing it has been performed in a small series of
patients with renal slips.222 In an adolescent with SCFE
secondary to renal disease, epiphyseal closure with in situ
fixation is the treatment of choice once the metabolic bone
disease is being treated appropriately (Fig. 42-16).
e596 SECTION VII  Other Orthopaedic Disorders
FIGURE 42-17  Osteodystrophy secondary to chronic renal
insufficiency in a young girl. An anteroposterior radiograph shows
slipping of the humeral head.
Physiolysis has been described in other physes in chil-
dren with renal osteodystrophy.535 Sites at which physiolysis
has occurred include the distal femur, proximal humerus,
and distal radius and ulna (Fig. 42-17). Treatment consists
of medical management of the metabolic bone disease and
cast immobilization.21,531
Avascular Necrosis. Another orthopaedic complication
seen in patients with renal failure is avascular necrosis,
usually of the femoral head.394 It may be unilateral or bilat-
eral. Prolonged steroid use, commonly needed after renal
transplantation, is the probable cause of avascular necrosis
in most children, although it has been seen in the hips of
some children with renal failure who were not taking ste-
roids. Treatment is symptomatic.
Parathyroid Disorders
Primary Hyperparathyroidism
Primary hyperparathyroidism results from hyperplasia or
adenoma of the parathyroid glands, which leads to increased
secretion of PTH.14,58 The increased PTH stimulates osteo-
clastic resorption of bone, which produces hypercalcemia.
The initial symptoms of hyperparathyroidism are lethargy,
bone pain, and abdominal complaints. The diagnosis is
usually made late in the course of disease, when the child
has abdominal symptoms, toxicity, and a hypercalcemic
crisis.117,273,542 The symptoms of hyperparathyroidism are
nonspecific, so the diagnosis is frequently missed at initial
evaluation.294 Prolonged hypercalcemia leads to ectopic cal-
cification in tissues and the formation of renal calculi.
Abdominal pain and constipation result from the decreased
abdominal motility. Hypertension is commonly present. In
severe cases, the patient may become obtunded.
In approximately two thirds of the patients the cause is
an adenoma, and in the remainder hyperplasia of the gland
is usually found.122,241,273,435 Patients who have undergone
head and neck irradiation are particularly susceptible to the
development of parathyroid adenomas.105,194 Hyperparathy-
roidism can also be a component of the multiple endocrine
neoplasia syndromes, which are inherited and can present
rarely in childhood.239,418,536,537 There are also very rare
genetic forms of hyperparathyroidism,124 some of which are
self-limiting with medical treatment,221,380 whereas others
are life-threatening.269,339 Infants born to parents with
familial hypocalciuric hypercalcemia are at risk for the
development of severe neonatal hyperparathyroidism
(a rare autosomal recessive disorder) as a result of homozy-
gous mutations in the calcium-sensing receptor gene.65,410
The condition presents within days after birth with
life-threatening hypercalcemia, which requires emergent
resection of the parathyroid glands.
The radiographic findings resemble those of renal osteo-
dystrophy. Bone resorption is seen in the terminal tufts of
the phalanges and in the clavicle. The bone appears osteope-
nic. Angular deformities resembling those seen in rickets
can occur.351
Laboratory evaluation generally reveals hypercalcemia,
hypophosphatemia, and an elevated alkaline phosphatase
concentration. Rarely, the calcium and phosphate concen-
trations are normal. The PTH level is elevated on direct
assays.
Treatment is directed toward correcting the cause of the
hyperparathyroidism. In cases of adenoma, tumor resection
is performed. Adenomas are imaged with radionuclide
scans, and it is not uncommon for multiple glands to be
involved.461 Hypercalcemic crisis is treated by hydration,
calciuresis, inhibition of bone calcium resorption, and treat-
ment of the parathyroid abnormality.540,542
Hypoparathyroidism
Hypoparathyroidism can result from failure of the parathy-
roid glands to synthesize or secrete PTH or from tissue
resistance to PTH.5 Parathyroid gland destruction from
iatrogenic causes—surgery or radiation—or an infiltrative
process is more relevant to the adult population, whereas
genetic causes of hypoparathyroidism affecting parathyroid
gland development and function are more relevant to the
pediatric population. Aplasia or dysplasia of parathyroid
gland can result from mutations of the GCMB (glial cell
missing) gene.71,140 Autosomal dominant and recessive forms
exist. Because the GCMB gene is almost exclusively
expressed in the parathyroid gland, its mutation causes iso-
lated hypoparathyroidism without other phenotypes. Muta-
tion of the X chromosome region q26-q27 is another cause
of isolated hypoparathyroidism. This form is inherited as an
X-linked recessive trait in males.546,569
Reduced synthesis or secretion of PTH can result from
CaSR mutations (chromosome 3q13.3-21).71,422 The muta-
tion causes a decrease in PTH secretion despite low serum
calcium levels because of activation of CaSR at a lower
extracellular calcium set point.34 Rare mutations in the PTH
gene can also reduce synthesis and secretion of PTH.
Hypoparathyroidism is also associated with DiGeorge
syndrome, which is caused by microdeletions in

chromosome 22q11.270 Thymic aplasia or hypoplasia with
immunodeficiency, cleft palate, dysmorphic facies, and
cardiac defects are other features of DiGeorge syn-
drome.209,489 De novo mutation is much more common than
the autosomal dominant form of DiGeorge syndrome.
Another autosomal dominant syndrome consists of hypo-
parathyroidism, sensorineural deafness, and renal dyspla-
sia.223 Other autosomal recessive types are associated
with growth retardation, seizures, and severe mental
retardation.330,400,449
Hypoparathyroidism should be distinguished from pseu-
dohypoparathyroidism, in which the production of PTH is
increased but the end organs cannot respond to the hormone.
The PTH infusion test is useful for differentiating the two.
When a test dose of PTH is administered to a patient with
hypoparathyroidism, urinary excretion of phosphate and
cyclic adenosine monophosphate (cAMP) increases appro-
priately and dramatically in contrast to a patient with pseu-
dohypoparathyroidism, whose response to the PTH test is
blunted because of target tissue resistance to PTH.281
The initial symptoms of hypoparathyroidism are
those of hypocalcemia—tetany caused by increased neuro-
muscular irritability, muscle cramps, facial or distal extrem-
ity paresthesias (Chvostek and Trousseau signs), and
lethargy. The skin is dry and the hair is brittle and scanty.
The teeth erupt late and fall out early. Cataracts may be
present, and papilledema may occur. Mental retardation is
seen in very young children.
Laboratory evaluation reveals low serum PTH and
calcium levels, high serum phosphate levels, and low urinary
calcium concentration because of hypocalcemia. Hypopro-
teinemia should be considered because the serum calcium
concentration is normally decreased in patients with
decreased albumin concentrations. The serum phosphorus
concentration is elevated. Radiographs may be normal or
may reveal increased radiopacity of the cortices of the long
bones. Soft tissue calcification can occur, including calcifica-
tion of the basal ganglia.341
Standard treatment is calcium and vitamin D therapy.
Nephrocalcinosis is a known complication of vitamin D
therapy, however.557 Administrating PTH to treat hypopara-
thyroidism is being investigated and promising results have
been reported in small studies with follow-up of up to 3
years.574-579 PTH therapy, however, is not yet considered
standard treatment for hypoparathyroidism. Infants with
hypoparathyroidism complicated by tetany may need
calcium infusion. There is no orthopaedic treatment specific
to the disease.
Pseudohypoparathyroidism
Pseudohypoparathyroidism is similar to hypoparathyroid-
ism in its clinical and radiographic manifestations but differs
in that PTH levels are elevated and it does not respond to
the administration of exogenous PTH. The parathyroid
glands are hyperplastic and secrete large amounts of the
hormone, but the kidneys are resistant to PTH.162 Bone
changes consistent with hyperparathyroidism occur because
the skeleton responds to the elevated PTH level.156 Thus,
findings include hypocalcemia and hyperphosphatemia
resembling hypoparathyroidism, as well as osteitis fibrosa
cystica resembling hyperparathyroidism.156,175 The skeletal
CHAPTER 42  Metabolic and Endocrine Bone Diseases e597
changes seen in pseudohypoparathyroidism are also termed
Albright osteodystrophy because Albright and associates
were the first to describe the disease.9
The cause is usually genetic. There are four subtypes
of pseudohypoparathyroidism—Ia, Ib, Ic, and II. The
molecular genetics of type Ia disease is caused by muta-
tions in the maternally inherited guanine nucleotide–
binding protein α-subunit gene (GNAS), which produces
a lack of GNAS signaling in the proximal renal tubules;
this in turn affects the adenylyl cyclase activity.4,509 Many
mutations in the GNAS gene have been identified.168,304
Patients with type Ia disease have been found to have
resistance to other hormones as well and suffer from mul-
tiple endocrinopathies, such as hypothyroidism and growth
hormone deficiency.490 These patients can present with
clinical features of Albright hereditary osteodystrophy,
which include a round face, mental retardation, frontal
bossing, short stature, obesity, brachydactyly, and ectopic
ossification.
In type Ib pseudohypoparathyroidism, the typical
features of Albright’s osteodystrophy are not seen, and
hormone resistance appears to be limited to PTH and
thyroid-stimulating hormone (TSH).320 Abnormal methyla-
tion of the maternal GNAS allele has been reported.
Type Ic is a variant of type Ia, with clinical features of
Albright osteodystrophy and resistance to multiple hor-
mones. However, no deficiency in GNAS activity is detect-
able in a standard in vitro assay because of the location of
GNAS mutation. The clinical appearance of affected infants
is normal, with osteodystrophic features gradually becoming
apparent at 2 to 4 years of age. There is a characteristic
shortening of the metacarpals, especially the first, fourth,
and fifth, termed brachydactyly (Fig. 42-18).95 When the
hands are clenched into a fist, dimples are present at the
sites of the knuckles of the fourth and fifth digits, thus
giving rise to the mnemonic “knuckle, knuckle, dimple,
dimple.” Multiple exostoses may be present, and the radius
FIGURE 42-18  Pseudohypoparathyroidism. An anteroposterior
radiograph of the hands shows shortening (brachydactyly) of the
first, fourth, and fifth metacarpals.
e598 SECTION VII  Other Orthopaedic Disorders

may be bowed. Patients are very short and often obese, and
the facies has been described as moon-shaped.389 Hetero-
topic calcifications occur, especially in the periarticular
tissues.426,488 Intracerebral calcifications have also been
described.499 Sensorineural hearing loss is common.271
As noted, certain types of pseudohypoparathyroidism
may be associated with hypothyroidism, Turner syndrome,
and diabetes. Brachydactyly may also be seen in Turner
syndrome and in myositis ossificans progressiva.
The diagnosis is assisted by administering PTH. A
patient with pseudohypoparathyroidism is unable to
respond to the exogenous hormone, so there will be no
increase in serum calcium or urinary phosphate levels, and
plasma cAMP (a product of adenylyl cyclase) will also not
increase.281,523
Treatment has been with vitamin D, but this has led to A
problems with nephrocalcinosis.557

Vitamin Disorders
Hypervitaminosis D
Hypervitaminosis D is a result of the ingestion of excessive
doses of vitamin D.59,220,251 Patients at risk are those who
are taking vitamin D for the treatment of metabolic bone
diseases such as vitamin D–resistant rickets and hypopara-
thyroidism.486 The elevated vitamin D level promotes the
intestinal absorption of calcium and thereby leads to hyper-
calcemia. The optimal nutritional requirements for vitamin
D in newborns and infants have been established.348
Pathology B
Histologically, wide osteoid seams are found around the
trabeculae, similar to what is seen in rickets.214 The physis,
however, is well calcified and normal in width and length.
Metastatic calcification may be found in the kidneys, arter-
ies, thyroid, pancreas, lungs, stomach, and brain. Deposition
of calcium salts in the kidneys and degenerative changes in
the arteries may produce significant morbidity.
Laboratory Findings
The hypercalcemia can be severe. The serum phosphate
concentration is normal, with a diminished alkaline phos-
phatase concentration.408
Clinical Features
Symptoms and signs of hypercalcemia are seen. Anorexia,
constipation, nausea and vomiting, polyuria, thirst, and C
symptoms of dehydration are the early manifestations. The
child feels very tired. With progression of the intoxication, FIGURE 42-19  Hypervitaminosis D in a 5-year-old boy who
mental depression and stupor develop. Renal failure and had taken 50,000 IU of vitamin D/day for the past 14 months.
A, Lateral view of the skull showing metastatic calcification of the
hypertension are common.
cerebral and cerebellar falces. B and C, Anteroposterior view of
Radiographic Findings both hips and lower limbs. Note the increased radiopacity of the
metaphyses.
Dense metaphyseal bands are seen in the long bones and
result from an increase in the proximal zone of calcification.
The diaphyses show osteopenia as a result of demineraliza- Treatment
tion. Osteosclerosis is visible at the base of the skull, and Treatment is medical and consists of the immediate cessa-
there may be premature closure of the sutures. The verte- tion of vitamin D supplements. Diuretics are given, with
bral end-plates are dense. Metastatic calcifications are seen replacement of volume with saline. Because dehydration
in soft tissues (Fig. 42-19).102,235 can be fatal, serum electrolyte levels must be carefully

monitored. Steroids inhibit calcium absorption in the kidney
and gut and are helpful in correcting the calcium level.573
Bisphosphonates inhibit bone resorption and have been
useful in treating vitamin D intoxication.492 Sodium phos-
phate should not be given because its administration leads
to ectopic calcification.
Scurvy
Scurvy is caused by a nutritional deficiency of vitamin C,
ascorbic acid.29,145 The disease is rare and is now most com-
monly seen in patients following extreme diets, such as
patients with anorexia nervosa.340,349 Historically, scurvy was
described in sailors whose diets lacked vitamin C during
long sea voyages.538
Pathology
When vitamin C is deficient, collagen synthesis is
impaired.31,172 Vitamin C is necessary for the hydroxylation
of lysine and proline to hydroxylysine and hydroxyproline,
two amino acids crucial to the proper cross-linking of the
triple helix of collagen.415 The result is primitive collagen
formation throughout the body, including the blood vessels,
which predisposes to hemorrhage.
Osteoblasts become dysfunctional, with failure to
produce osteoid tissue and form new bone. Chondroblasts,
however, continue to function normally, and mineraliza-
tion is unaffected. This leads to the persistence of car-
tilage cells, and calcified chondroid approaches the
metaphysis. Radiographically, an opaque white line termed
Frankel’s line is seen at the junction of the physis and
metaphysis.
Generalized osteoporosis results from lack of osteoid
and new bone. Osteoclasts are normal, but osteoblasts
become flattened, with a resemblance to connective tissue
fibroblasts. The bone trabeculae and cortices of the long
bones are thin and fragile. Hemorrhage and fractures are
common, but the body’s attempt to repair these injuries
is disorderly. The provisional zone of calcification is weak,
which leads to epiphyseal separations. In the teeth,
dentin formation is abnormal because of the defective
collagen.
Clinical Features
Scurvy develops after 6 to 12 months of dietary deprivation
of vitamin C, so it is not seen in neonates. Early manifesta-
tions consist of loss of appetite, irritability, and failure to
thrive. Hemorrhage of the gums is common, and they
become bluish and swollen. Subperiosteal hemorrhage is a
distinctive sign that usually occurs in the distal femur and
tibia and proximal humerus.182 The limbs become exqui-
sitely tender, so much so that the infant screams on move-
ment of the affected areas. The child lies still in the frog-leg
position to minimize pain, a posture called pseudoparalysis.
The limbs are swollen and bruised. Beading of the ribs at
the costochondral junctions may occur. Hemorrhage may
also develop in the soft tissues, including the joints, kidneys,
and gut, and petechiae may be seen.158,279,299,580 The hair
takes on a coiled appearance.386 Anemia and impaired
wound healing are common. Severe hypertension has been
described.558
CHAPTER 42  Metabolic and Endocrine Bone Diseases e599
Radiographic Findings
The changes of scurvy are best seen at the knees, wrists,
and proximal humeri (Fig. 42-20).70,73 Osteopenia is the
first change seen, with thinning of the cortices.158 The zone
of provisional calcification increases in width and opacity
(Frankel’s line) because of failure of resorption of the calci-
fied cartilaginous matrix, and it stands out in comparison to
the severely osteopenic metaphyses. The margins of the
epiphyses appear relatively sclerotic, a finding termed
ringing of the epiphyses, or Wimberger sign. Lateral spur
formation at the ends of the metaphysis is produced by
outward projection of the zone of provisional calcification.
The scurvy line or scorbutic zone is a radiolucent transverse
band adjacent to the dense provisional zone. The corner or
angle sign of scurvy is a peripheral metaphyseal cleft caused
by a defect in the spongiosa and cortex adjacent to the
provisional zone of calcification. Epiphyseal separation may
occur.375,505,506
Subperiosteal hemorrhage usually occurs at the femur,
tibia, or humerus and is initially seen as an increase in soft
tissue density. The hemorrhage becomes radiodense as the
scurvy is treated and the lesions calcify. The development
of a physeal bar in a patient with scurvy has been
described.232
Differential Diagnosis
The most common entity for which scurvy is mistaken is
osteomyelitis. The symptoms of pain, tenderness, subperi-
osteal soft tissue swelling, and pseudoparalysis resemble
the symptoms of infection. Because infection is common
and scurvy is extremely rare, the condition can be misdiag-
nosed initially. The sedimentation rate, C-reactive protein
level, and white blood cell count are normal in scurvy,
however. Other diagnoses to be considered for this clinical
picture include polio,432 leukemia, and purpuric conditions,
such as Henoch-Schönlein purpura and thrombocytopenic
purpura. Syphilis may be suspected543 but usually occurs
earlier.
Serum levels of vitamin C may be difficult to interpret
in scurvy. A more reliable test is the absence of vitamin C
in the buffy coat of centrifuged blood.
Treatment
Treatment is administration of vitamin C. Rapid recovery is
usual, with the pain and tenderness resolving. Scurvy is
prevented by adequate intake of vitamin C, defined as
25 mg/day for infants, 30 to 40 mg/day for children and 40
to 75 mg/day for adults. Intoxication does not occur.
Hypervitaminosis A
Vitamin A is a fat-soluble vitamin whose primary biologic
functions are concerned with skeletal growth, maintenance
and regeneration of epithelial tissues, and preservation of
visual purple in the retina. It is also necessary for membrane
stability. The normal plasma level of vitamin A is 80 to
100 IU/100 mL. Hypervitaminosis A is very rare and
usually results from inappropriate use of vitamin supple-
ments.44,184,485 Retinoids used for acne also contain vitamin
A and can lead to toxicity.48,413,505
e600 SECTION VII  Other Orthopaedic Disorders

A B C
FIGURE 42-20  Scurvy in a 10-month-old infant. A, Anteroposterior radiograph of both lower limbs demonstrates early changes in the
scorbutic bones. Note the generalized osteoporosis with rarefaction of the spongiosa and atrophy of the cortex. There is relatively
increased opacity of the provisional zones of calcification at the ends of the metaphyses and around the margins of the epiphyseal centers
of ossification (ringing of the epiphyses). B, Two weeks after treatment with ascorbic acid, marked calcification of subperiosteal hematoma
of the right femur has occurred. Such minimal calcification is also evident in the medial aspects of the distal left femoral shaft and
proximal left tibia. Note the multiple metaphyseal spur formation. C, Three months later there are further radiographic signs of healing
scurvy. The cortices have become thicker and the spongiosa has almost normal density. Note the persistence of rarefaction in the
epiphyseal centers.

Clinical Features Treatment

Clinically, the soft tissues overlying the hyperostotic
bones are swollen and tender. Proliferation of basal cells
and hyperkeratinization cause dry, itchy skin.205 Anorexia,
vomiting, and lethargy are caused by increased intracra-
nial pressure.51 The child fails to thrive. Hepatomegaly
with cirrhosis-like liver damage or splenomegaly may be
present.160
Radiographic Findings
The development of bone changes in patients with hyper-
vitaminosis A is slow, so radiographs are normal initially. For
this reason, radiographs are normal in children younger than
1 year. Once changes do occur, there is periosteal hyperos-
tosis and thickening of the cortex of the long bones.81 The
ulna, radius, metacarpals, and metatarsals are particularly
affected. The mandible is spared, a fact that distinguishes
hypervitaminosis A from Caffey disease. Subperiosteal new
bone formation is seen (Fig. 42-21). Bone scintigraphy
shows increased uptake. Premature partial or complete
physeal closure may be present.356,411,464
Diagnosis
The diagnosis is made by determining the plasma level of
vitamin A, which will be elevated 5 to 15 times the normal
value. Hypercalcemia can be present.170,176 Hypervitamin-
osis A must be differentiated from infantile cortical hyper-
ostosis (Caffey disease), scurvy, and congenital syphilis.551
Treatment entails total cessation of administration of
vitamin A and eliminating all foods containing vitamin A
from the diet. Because of the large body reserves of vitamin
A, the hyperostosis will disappear only after a long period,
although the systemic symptoms resolve quickly. Growth
of the long bones should be monitored because premature
physeal closure may not become apparent for years after
the initial insult.
Hypophosphatasia
Hypophosphatasia is a rare inheritable disorder cause by a
deficiency of TNSALP.366 TNSALP is an enzyme that gener-
ates inorganic phosphate by hydrolyzing inorganic pyrophos-
phate. Inorganic phosphate is required for hydroxyapatite
formation, whereas inorganic pyrophosphate suppresses the
formation and growth of hydroxyapatite. There is wide
variation in the severity of the disease, with prognosis
related to the age at onset. A number of forms of hypophos-
phatasia exist—perinatal lethal, perinatal benign, infantile,
childhood, adult, and odontohypophospatasia.33,359,431,563
Inheritance
The gene for hypophosphatasia is the TNSALP gene
(TNSALP), and many different mutations have been
described within this gene.83,207,228 The transmission of

A B
FIGURE 42-21  Hypervitaminosis A in a 2-year-old child. Note the subperiosteal new bone formation and cortical thickening of both
tibiae and both ulnae. The mandible and other facial bones are not affected. A and B, Radiographs of the right and left forearms.
C, Radiograph of both lower limbs.
lethal forms is autosomal recessive, whereas milder forms
may have autosomal dominant or recessive transmission.
Heterozygous carriers of hypophosphatasia can be detected
by abnormally diminished alkaline phosphatase concentra-
tions in plasma.
Pathology
The pathology seen in hypophosphatasia closely resembles
that seen in patients with rickets. Osteoid production pro-
ceeds unharmed, but without alkaline phosphatase, miner-
alization of osteoid cannot occur.565 This leads to widening
of the physis, with persistence of the provisional zone of
calcification, which cannot calcify, and islands of cartilage
continuing down into the metaphysis. The normal columnar
arrangement of the chondrocytes of the growth plate is
disturbed. If hypercalcemia is present, heterotopic calcifica-
tion can occur, especially in the kidney.
Laboratory Findings
The hallmark of hypophosphatasia is a decrease or lack of
alkaline phosphatase. The enzyme is decreased not only in
serum but also in tissues such as the kidneys, bones, leuko-
cytes, and spleen. Serum phosphorus, vitamin D, and PTH
levels are normal, but hypercalcemia may be present, espe-
cially in young children. Characteristic findings in urine are
elevated levels of phosphoethanolamine, which may be
elevated in other endocrinopathies, and inorganic pyrophos-
phate. Pyridoxal-5′-phosphate levels are also increased in
hypophosphatasia in relation to disease severity.246 Disease
carriers have been found to have decreased serum alkaline
CHAPTER 42  Metabolic and Endocrine Bone Diseases e601
C
phosphatase levels and increased urinary pyrophosphate
levels.312
Clinical Features and Radiographic Findings
Perinatal Hypophosphatasia
The clinical findings vary with the age at which the disease
is manifested. In the perinatal lethal form, absence of skel-
etal mineralization is detected by prenatal ultrasound, and
the infants may be stillborn. If they survive birth, they
usually die from respiratory complications in early infancy
because of hypoplastic lungs and chest wall deformities.
A nonlethal, benign, prenatal form also exists and has
been recognized.563 These patients have congenital limb
bowing with a variable degree of hypomineralization, which
improves postnatally, along with their limb bowing.
Radiographs of infants with the severe or lethal form of
perinatal hypophosphatasia reveal diffuse, severe deminer-
alization of the entire skeleton (Fig. 42-22). Ossification
of the skull is incomplete, and the suture lines are very
wide. The ribs are unossified at the ends and slender in the
middle. The pelvis is small, soft, and poorly mineralized.
The vertebral bodies are paper thin and the neural arches
cannot be seen. The long bones have jagged rarefied defects
extending into the metaphysis.
Infantile Hypophosphatasia
In the infantile form, patients appear normal at birth. The
onset of symptoms presents later in infancy, usually at
approximately 6 months of age. Affected children fail to
e602 SECTION VII  Other Orthopaedic Disorders
A B
C D
FIGURE 42-22  Typical radiographic changes of hypophosphatasia in a 4-month-old infant. A and B, Both upper limbs. C, Lower limbs.
D, Spine (see text for discussion). E, Skull. F, Femur, obtained at autopsy (see text for discussion).
thrive and experience anorexia, vomiting, dehydration,
fever, hypotonia, and sometimes seizures.
Demineralization of the bones occurs but is not as
marked as in the perinatal form. The bones look rachitic,
with widened physes, bossing of the skull, bowing of the
ribs, and flaring of the metaphyses of the long bones and
costochondral junctions. Lucent streaks in the metaphyses
represent nests of unossified physeal cartilage. Fractures and
bowing of the extremities are common. The cranial sutures
are initially wide but close prematurely, thereby leading to
increased intracranial pressure. Some patients show spon-
taneous improvement with time whereas others show pro-
gressive skeletal deterioration, with fractures and flail chest
leading to pneumonia and lethal outcome. Hypercalcemia
and hypercalciuria may cause renal calcinosis. Renal failure
and hypertension then follow.
Childhood Hypophosphatasia
This form is most heterogeneous.366 Skeletal deformities,
enlarged joints, delayed walking, waddling gait, short stature
caused by disturbance of normal endochondral ossification,
dolichocephaly, failure to thrive, bone pain, fractures, and
intracranial hypertension may be observed. Dentition
problem is common, with premature loss of the primary
teeth.94,556 Spontaneous improvement has been observed.
Adult Hypophosphatasia
A rare adult form of hypophosphatasia usually presents
during middle age. Clinically, the disease usually becomes
apparent with nonhealing metatarsal stress fractures or
E F
thigh pain secondary to pseudofractures of the femur.
Osteomalacia is present. Chondrocalcinosis and severe
osteoarthropathy may develop.
Diagnosis
Prenatal Diagnosis
Hypophosphatasia can be diagnosed in fetuses. Ultrasound
shows deficient ossification of the fetal skull.265 A definitive
diagnosis can be established by amniocentesis and molecular
genetic testing to search for mutations in TNSALP in at-risk
infants.229
Differential Diagnosis
Hypophosphatasia is usually confused with severe type II
osteogenesis imperfecta because of the presence of birth
fractures and the severe demineralization. Thanatophoric
dwarfism and achondrogenesis can also resemble the peri-
natal form of hypophosphatasia.
Less severe forms of hypophosphatasia should be dif-
ferentiated from the various types of rickets. In rickets, the
alkaline phosphatase concentration is generally increased,
whereas in hypophosphatasia, by definition it is decreased
or not measurable.
Treatment
Although there is no curative treatment for hypophospha-
tasia, a limited number of drugs have been reported to be
effective in managing certain problems associated with
hypophosphatasia. Nonsteroidal antiinflammatory drugs

(NSAIDs) have been shown to improve pain in childhood
hypophosphatasia.195,196 Recombinant human PTH 1-34 can
improve and resolve metatarsal stress fractures in adult
hypophosphatasia.568 A case report of bone marrow cell
transplantation in a patient with severe infantile hypophos-
phatasia showing clinical and radiographic improvements
has been reported.567 In another patient with infantile hypo-
phosphatasia, successful transplantation of bone fragments
and cultured osteoblasts, with improvement in the clinical
severity of the disease, has also been reported.82 If the
diagnosis of rickets is mistakenly made, treatment with
vitamin D can worsen the heterotopic calcification and
nephrocalcinosis. Enzyme replacement therapy is not yet
available.
Fractures require orthopaedic referral. Healing of
fractures is generally delayed in patients with hypophospha-
tasia. Occasionally, multiple osteotomies with intramedul-
lary fixation, as would be done in cases of severe osteogenesis
imperfecta, are needed to correct the bowing and lend
structural support to the long bones.
Idiopathic Hyperphosphatasia
Idiopathic hyperphosphatasia is an extremely rare bone dys-
plasia characterized by Paget disease–like features, which
include an increased bone turnover, with failure to replace
immature woven bone with mature lamellar bone, skeletal
deformity, bone expansion, and increased risk of pathologic
fractures.430 It also known as juvenile Paget disease of bone
or familial hyperphosphatasia. Biochemically, serum levels
of alkaline phosphatase are increased—hence, the name
hyperphosphatasia—as is urinary excretion of hydroxypro-
line. The disease is transmitted as an autosomal recessive
trait, and mutations in the TNFRSFIIB gene, which encodes
osteoprotegerin (OPG), have been identified.120,566 Depend-
ing on the location of the mutation, the severity of the
disease can be mild to severe.101
Clinically, the long bones are bowed and prone to stress
fractures because of osteopenia and decreased biomechani-
cal strength of the bone.141 Kyphosis and acetabular protru-
sion may also develop. The patient’s skull is enlarged and
progressive sensorineural deafness occurs. Initial complaints
are painful swelling of the limbs and bowing. Muscle mass
appears diminished, and the limbs may be warm. Affected
children are very short.
Radiographic findings include generalized diaphyseal
expansion of the bones, with subperiosteal new bone depo-
sition.564,566 Fractures are transverse and usually nondis-
placed. The spine and pelvis show patchy areas of sclerosis.
The base and vault of the skull are thickened.
Pathologic studies of bone tissue show extensive fibrosis
of the marrow with cellular hyperactivity. There is evidence
of increased bone resorption and bone formation resembling
fibrous dysplasia.409,515 There may be a mosaic pattern of
cement lines resembling what is seen in Paget disease.157
Conditions from which hyperphosphatasia must be dis-
tinguished include Camurati-Engelmann disease, craniodi-
aphyseal dysplasia, and fibrous dysplasia. Hyperphosphatasia
can be differentiated from all these conditions by the dis-
tinct elevation in the serum alkaline phosphatase level.
CHAPTER 42  Metabolic and Endocrine Bone Diseases e603
Treatment consists of antiresorptive drugs such as calci-
tonin and bisphosphonates. Successful treatment of the
disease has been reported in case reports and case series
with the use of pamidronate and ibandronate.87,121,534
Growth Hormone Deficiency
Isolated growth hormone deficiency can have a congenital
or acquired cause. However, the cause is unknown (idio-
pathic) in most cases. The hereditary or familial form of
growth hormone deficiency has four types, which are based
on the inheritance pattern and phenotype—autosomal
recessive (types IA and IB), autosomal dominant (type II),
and X-linked (type III).8,104 Various mutations in the genes
for growth hormone (GH1), receptor of growth hormone–
releasing factor (GHRHR), and transcription factor SOX3
have been reported in the cases of familial isolated growth
hormone deficiency. The GH1 mutation is the most
common. In the vast majority of the familial cases, however,
a mutation is not detected, suggesting that unknown genetic
factors may also be involved in the pathogenesis. In type IA
deficiency, various GH1 mutations (deletions, frameshift,
or nonsense mutation) lead to a severely truncated or absent
growth hormone, and serum growth hormone is undetect-
able. In type IB deficiency, mutations in the gene for GH1
or GHRHR have been described. In contrast to type IA,
serum growth hormone level is low but detectable in type
IB. In type II deficiency, GH1 mutations are also observed;
however, the locations of the mutations mainly affect the
splicing of mRNA for GH1, producing a smaller isoform of
growth hormone. This has an altered protein structure that
affects the secretion of growth hormone and other hor-
mones and the proliferation and survival of the somatotro-
phic cells of the anterior pituitary.478 Thus, the patients with
type II deficiency may have a hypoplastic anterior pituitary
on MRI and may develop clinical features of other pituitary
hormone deficiencies. Type III deficiency has an X-linked
inheritance; affected males have an absent or severe defi-
ciency of gamma globulins.521 Mutations in the transcription
factor SOX3 and the gene for Bruton tyrosine kinase have
been implicated with this condition.291,513 SOX3 plays an
important role in the development of the pituitary gland,
craniofacial structures, and central nervous system (CNS).
Thus, type III deficiency may be associated with mental
retardation, craniofacial dysmorphism, panhypopituitarism,
anterior pituitary hypoplasia, and posterior pituitary
abnormalities.
Clinical Features
In congenital forms the infant is of normal size, but dimin-
ished growth is noted within the first 6 months in type IA
deficiency. The limbs are of normal proportion in relation
to the head and trunk. Intelligence is normal in most cases.
The phenotypic feature of type IB deficiency is less severe
in terms of growth disturbance than type IA. The condition
can be associated with hypogonadism and a delay in or
absence of sexual maturation.204,458
In the acquired form caused by a pituitary lesion, signs
of neurologic deficit, such as impaired vision, ocular distur-
bances, and pathologic sleepiness, are present.
e604 SECTION VII  Other Orthopaedic Disorders

Radiographic Findings
In congenital hypopituitarism, skeletal maturation is
delayed. The ossification centers are late in both appearance
and closure. Osteoporosis of the long bones and the skull is
present. The fontanelles close later than normal.
Where there is a lesion in the pituitary, radiographs
reveal enlargement of the sella turcica, the home of the
pituitary. Intrasellar or suprasellar calcification suggests
craniopharyngioma. MRI is especially useful for viewing
the pituitary. Enlargement, hypoplasia, or tumor can be
seen.135,412
Diagnosis
Serum levels of growth hormone will be low or absent.
Because low levels are normal in healthy children, a stimula-
tory test is usually needed to confirm the lack of growth
hormone.305 Insulin or L-arginine is administered to produce
hypoglycemia, which stimulates the release of growth
hormone. Growth hormone levels do not increase in patients
with pituitary dwarfism after the administration of these
agents.
Treatment
Pituitary dwarfism is treated by the administration of syn-
thetic growth hormone.225,460 This treatment stimulates
growth and should be monitored by a pediatric endocrinolo-
gist. Patients with growth hormone deficiency after resec-
tion of craniopharyngiomas rarely have an isolated deficiency
in growth hormone, so additional hormone replacement FIGURE 42-23  Typical clinical appearance of congenital
therapy is necessary, under the guidance of the endocrinolo- hypothyroidism.
gist. In some children with growth hormone deficiency,
panhypopituitarism has developed in adulthood, with hypo- and goiter to ectopic thyroid tissue. Defects in thyroid
thyroidism and abnormalities in antidiuretic hormone. On hormone synthesis are responsible for the remaining 20%
rare occasion, referral to an orthopaedic surgeon is needed of cases.
for the treatment of SCFE.
Clinical Features
Symptoms in early infancy include prolonged jaundice, leth-
Hypothyroidism argy, sleepiness, feeding difficulties, and constipation. Fre-
quently these infants are overweight. Other features include
Thyroid hormone deficiency may be congenital or acquired. dry skin, scanty coarse hair, an enlarged tongue, umbilical
The degree of deficiency, age at onset, and duration of the hernias, and an expressionless face (Fig. 42-23). Develop-
deficiency are all factors that determine the severity of mental delay is noted. Associated congenital malformations,
disease. Hypothyroidism is fairly common, with an inci- especially heart defects, are more likely to occur in children
dence of 1/4000 newborns.284 with congenital hypothyroidism.385,498
Congenital hypothyroidism, previously known as cretin- In acquired hypothyroidism, which is manifested later in
ism, is the most common endocrine disorder found in neo- childhood, sluggishness, a slowdown in growth, and worsen-
nates. It leads to dwarfism and mental retardation if ing school performance are noted.284 SCFE may occur and
treatment is delayed for more than 3 months postnatally.264 lead to groin, hip, or knee pain. Hypogonadism is present,
Neonatal screening for congenital hypothyroidism has and the children are often overweight.
allowed early diagnosis and treatment, with prevention
of mental retardation.169 It is more common in girls than Radiographic Findings
in boys. Thyroid hormone is very important in regulating bone
growth and maturation. In patients with hypothyroidism,
Causes enchondral bone formation is disturbed. The skeleton is
Congenital hypothyroidism can be caused by prenatal devel- immature for the infant’s chronologic age. Appearance of
opmental defects of the thyroid gland producing a struc- the epiphyses is delayed, and they appear irregular and
tural abnormality (thyroid agenesis or dysgenesis) or by fragmented, which in childhood resembles what is seen in
defects in thyroid hormone biosynthesis (thyroid dyshor- Perthes disease or multiple epiphyseal dysplasia.147 Epiphy-
monogenesis).212 The former, structural causes of congenital seal dysgenesis was the term used by Reilly and Smyth to
hypothyroidism, are found in most cases (80%). Structural describe the ossific nuclei.444 The physis may be irregular
abnormalities range from aplasia of the thyroid, hypoplasia, and widened, similar to the radiographic picture in rickets.

The bone age of the patient is delayed. The long bones
are abnormally widened as a result of normal intramembra-
nous bone formation in the context of disturbed endochon-
dral ossification.
The head appears large. Radiographically, ossification of
the skull is retarded and the base of the skull is shortened.
The sella turcica may be enlarged. Closure of the fontanelles
is delayed. A delay in the development of normal dentition
is common. Spinal radiographs show a tendency toward
thoracolumbar kyphosis. The vertebral body of L2 is wedge-
shaped and the anterior margin is beaked. L1 and L3 may
have a similar appearance. The bony end-plates are convex.
Osteosclerosis develops in some patients as a result of
hypercalcemia. Radiographs in these patients show trans-
verse radiopaque bands in the metaphyseal areas and thick-
ened cortices. Metastatic calcification can occur. MRI has
shown enlargement of the pituitary in children with con-
genital hypothyroidism.135
Diagnosis
Great advances have been made in the diagnosis of con-
genital hypothyroidism. Screening programs are in place
to measure TSH levels in the newborn nursery.13,130,211,243,442
An elevated TSH level is suggestive of congenital hypo-
thyroidism.555 Further laboratory evaluation of thyroid
hormone levels and further imaging studies consisting of
radionuclide scintigraphy of the thyroid or thyroid ultra-
sound are then performed to ascertain the cause of the
hormone deficiency.93,370,548
Early diagnosis is mandatory because a delay in diagnosis
can lead to irreversible mental retardation. The workup of
a developmentally delayed child should include laboratory
evaluation of thyroid function when the cause of the delay
is unknown.6
There is an association between Down syndrome and
hypothyroidism. Studies have shown that 15% to 35% of
infants with Down syndrome have congenital hypothyroid-
ism,253,262 and annual screening of these children is recom-
mended.262 Hypothyroidism should be especially considered
in children with Down syndrome who have SCFE. In one
study, six of eight patients with Down syndrome and slipped
epiphyses had hypothyroidism.66
Other laboratory findings in children with hypothyroid-
ism may include high serum calcium levels.553 Patients with
panhypopituitarism will have not only hypothyroidism but
also the other hormonal deficiencies seen in this disorder,
such as growth hormone deficiency.
Treatment
Treatment begins immediately on diagnosis. Hormone
replacement therapy with thyroxine is initiated and care-
fully monitored. If treatment is begun by 24 months of age,
subsequent growth has been shown to be normal by 5
years.20,97 With hormonal replacement therapy, the pubertal
growth spurt is normal, and adult height is within normal
limits.137 Long-term thyroxine replacement therapy has not
been shown to decrease bone mass and lead to osteope-
nia.275 Prompt treatment results in normal intellectual
development.293
Prenatal diagnosis through cord blood sampling has been
achieved, and prenatal treatment of hypothyroidism by
means of thyroid hormone injected into amniotic fluid has
CHAPTER 42  Metabolic and Endocrine Bone Diseases e605
been successful in experimental settings.76,414 If congenital
hypothyroidism remains untreated, the mental retardation
is progressive, and most children die early of respiratory
infection.
Orthopaedic Considerations
In an older child, SCFE may be the first manifestation of
hypothyroidism (Fig. 42-24).308 Screening recommenda-
tions range from screening all patients with SCFE for
thyroid disease561 to no routine screening whatsoever. We
believe that any patient with SCFE who is younger than
usual (<11 years), who has a family history of thyroid abnor-
malities, or who does not have the typical obese body
habitus should be screened for hypothyroidism with a TSH
test. Patients with Down syndrome and slips should be
considered to have hypothyroidism until proven other-
wise.66 In patients with SCFE secondary to hypothyroidism,
contralateral prophylactic pinning should be performed
because the incidence of bilateral SCFE in hypothyroidism
is 61%.308
Idiopathic Juvenile Osteoporosis
Idiopathic juvenile osteoporosis is a rare metabolic
bone disease of childhood characterized by a profound
reduction in bone mass of unknown cause. The cardinal
features of idiopathic juvenile osteoporosis are as folllows:
(1) onset before puberty; (2) compression fractures of the
vertebrae and long bones; (3) formation of new but osteo-
porotic bone; and (4) spontaneous recovery after skeletal
maturity.
Causes
The cause of idiopathic juvenile osteoporosis remains
unknown. The disease is not genetically transmitted. The
basic mechanism of disease is decreased bone remodeling
activity and decreased bone formation. Bone histology gen-
erally shows a decreased cancellous bone volume and a very
low bone formation rate on cancellous surfaces.440 Bone
remodeling activity is less involved in the cortical bone
surfaces than cancellous bone surfaces.441 In one study,
secretion of synthesized collagen by cultured skin fibroblasts
in some patients with idiopathic juvenile osteoporosis was
reduced, whereas the range of collagen secretion in other
patients with the disease overlapped the normal range.421
Another study found diminished levels of the carboxy-
terminal propeptide of type I procollagen in patients with
juvenile osteoporosis, again indicating abnormalities in col-
lagen metabolism.427
Biomechanical studies are conflicting. Serum calcium
and phosphorus levels are normal in these patients. Calcium
balance, however, is negative, with poor gastrointestinal
absorption of calcium.234,283 Alkaline phosphatase and
urinary hydroxyproline levels are usually normal as well.
Although most studies reported normal vitamin D
levels,248 two studies found low levels of calcitriol
(1,25-dihydroxycholecalciferol). Therapy was then directed
toward the vitamin deficiency, with improvement in the
disease.323,474 It may be that different forms of the disease
have different biochemical profiles.
e606 SECTION VII  Other Orthopaedic Disorders

A B

C D

E F
FIGURE 42-24  A and B, Right slipped capital femoral epiphysis in a 13-year-old girl. Hypothyroidism was diagnosed on initial evaluation.
Physeal widening is seen in the asymptomatic left hip. C and D, In situ fixation was performed bilaterally. E and F, At 2-year follow-up,
the physes were healed.

The initial complaints in children with idiopathic juvenile

Clinical Features
The mean age at onset is 7 years, with cases reported in
children as young as 1 year.510 By definition, the disease is
always manifested before puberty. There is no gender
predilection.
osteoporosis are back and leg pain.138 Patients may refuse to
walk or may have a slow gait or limp.554 The examining
physician should always remember that a limp in children
is a common orthopaedic problem, whereas idiopathic juve-
nile osteoporosis is an extremely rare condition.

A B
FIGURE 42-25  Idiopathic juvenile osteoporosis. Anteroposterior (A) and lateral (B) radiographs of the spine showing the severe
osteoporosis. Note the compression fractures of the vertebrae in the lumbar region. C, AP radiograph of both tibiae. Note the plastic
bowing of the fibulae and marked osteoporosis.
Radiographic Findings
Diffuse generalized osteoporosis is seen on radiographs of
the spine and limbs (Fig. 42-25). The normal trabecular
pattern is markedly decreased and the cortices of the bones
are thinned. On lateral radiographs of the spine, a codfish
appearance is seen. Increased thoracic or thoracolumbar
kyphosis with anterior wedging of the vertebrae may
develop. Vertebral compression fractures may be evident,
and scoliosis may be present.
Another radiographic feature is the presence of long
bone fractures in various stages of healing. The fractures are
usually metaphyseal and tend to occur in areas of highest
stress, such as the femoral neck. Other areas in which stress
fractures are common are the distal femur and proximal
tibia. The skull does not have a wormian appearance.
Diagnosis
The diagnosis is one of exclusion. The various known causes
of osteoporosis in childhood are listed in Box 42-1. The
most difficult distinction to make is between idiopathic
juvenile osteoporosis and mild osteogenesis imperfecta.
Patients with a positive family history have osteogenesis
imperfecta, yet individuals with no affected relatives may
have either disease. Other distinguishing features of osteo-
genesis imperfecta that are not associated with idiopathic
juvenile osteoporosis are blue sclerae, dentinogenesis imper-
fecta, ligamentous laxity, and easy bruising. Patients with
juvenile osteoporosis do not sustain fractures in early
infancy, which may help differentiate the two diseases in
CHAPTER 42  Metabolic and Endocrine Bone Diseases e607
C
some patients. Finally, the fracture callus in juvenile osteo-
porosis is osteopenic.
Fibroblast studies may be of some help in establishing
the diagnosis of osteogenesis imperfecta, but overlap of
results with normal ranges and with results in idiopathic
juvenile osteoporosis may occur in some children.421
Bone biopsy is not generally necessary to diagnose osteogen-
esis imperfecta or idiopathic juvenile osteoporosis but,
when it is performed, increased woven immature bone is
seen in osteogenesis imperfecta, whereas increased osteo-
clastic resorption of bone is seen in idiopathic juvenile
osteoporosis.258
Another very important clinical distinction to make is
that between leukemia and idiopathic juvenile osteoporosis.
A child with leukemia may have osteopenia and compres-
sion fractures, so urgent referral to a pediatric hematologist
is wise in the evaluation of a patient with osteoporosis.
Usually, a bone marrow aspirate will be required to rule out
leukemia definitively.
Treatment
Treatment of idiopathic juvenile osteoporosis is controver-
sial. Isolated reports of successful medical treatment with
calcitonin,248 calcitriol,323,474 bisphosphonates,232 and estro-
gen581 have been published. All reported improved bone
mineralization and decreased fractures. It appears that
when a demonstrable deficiency is found through laboratory
testing, treatment aimed toward correcting that deficiency
is warranted.
e608 SECTION VII  Other Orthopaedic Disorders

Box 42-1  Causes of Osteoporosis can occur because of the collagen pathology. Less severe
in Childhood manifestations may include generalized ligamentous laxity,
hernias, easy bruisability, and excessive sweating. The spec-
ENDOCRINE DISORDERS trum of age at presentation, severity of skeletal manifesta-
Hyperthyroidism tions, and natural course of the disorder is very broad.†
Hyperparathyroidism The severity of the bone fragility is the best example of
Hypogonadism this wide spectrum; fragility can be so severe that the
Glucocorticoid excess—Cushing syndrome, steroid therapy affected infant is born with crumpled ribs, a fragile cranium,
METABOLIC DISORDERS and long bone fractures incompatible with life, whereas at
Homocystinuria the opposite end of the spectrum, an older child who oth-
Gastrointestinal malabsorption erwise appears normal may sustain only a few fractures after
Idiopathic hypoproteinemia a reasonable amount of trauma.
Vitamin C deficiency The distinction between child abuse (nonaccidental
Rickets of any cause
injury) and excessive bone fragility may be difficult to make
LIVER DISEASE in these latter circumstances.24,134,268,404,405,533 It is now
RENAL DISEASE known that at least 90% of affected individuals have an
Chronic tubular acidosis identifiable genetic defect producing quantitative or qualita-
Idiopathic hypercalciuria tive abnormalities in type I collagen (or both types of
Lowe syndrome defect).‡
Uremia and regular hemodialysis Type I collagen is the major structural protein found in
BONE DISEASES bone and connective tissue of dentin, sclera, skin, ear bones,
Osteogenesis imperfecta vessels, and heart valves. The disorder may be inherited
Idiopathic juvenile osteoporosis from a parent in an autosomal dominant fashion, may
Idiopathic osteolysis occur as a spontaneous mutation or, rarely, may be inherited
Turner syndrome (XO chromosome anomaly) as a homozygous autosomal recessive trait from both
MALIGNANT DISEASES parents.109,110,358 The autosomal dominant forms are caused
Leukemia by a quantitative or qualitative type I collagen defect,
Lymphoma whereas autosomal recessive forms are caused by noncol-
lagenous proteins that interact with type I collagen during
MISCELLANEOUS CAUSES
posttranslational modification or during the folding of the
Disuse osteoporosis of paralyzed limbs as in myelomeningocele
Generalized osteoporosis of Still disease, especially after steroid triple helix.174
therapy
Pathophysiology
Heparin therapy
Anticonvulsant drug therapy The vast majority (at least 90%) of individuals with osteo-
genesis imperfecta have an identifiable genetic defect in one
of the two chains that form the type I collagen.§
Some understanding of normal collagen formation and
Orthopaedic treatment of the spine is usually conserva- errors in the metabolic process that are seen in osteogenesis
tive. Bracing may relieve back pain and treat the kyphotic imperfecta is essential for understanding the pathophysiol-
deformity. The Milwaukee brace has been used for this ogy and variability of the disorder.
purpose, with reported success.226,257 The role of the brace
in accelerating osteoporosis by stress shielding the spine is Normal Type I Collagen Metabolism
unknown. Use of the brace should be discontinued gradu- Type I collagen is the major structural collagen of the bone,
ally as the osteoporosis resolves. Similarly, scoliosis should skin, tendons, dentin, and sclera. It is a triple-helix molecule
be managed orthotically when possible. Spinal fusion has made of two α1 chains and one α2 chain. In a normal fibro-
been performed in isolated cases, but continued progression blast, precursor subunits for these two types of strands
of the deformity because of bending of the fusion mass has (pro-α1 [I] and pro-α2 [I] polypeptide chains) are synthe-
been described.39 sized in the rough endoplasmic reticulum. These two pro-
Long bone fractures should be managed by conventional collagen polypeptide chains are encoded by two separate
means. Immobilization should be kept to a minimum genes, COL1A1 (encoding for pro-α1 [I]), located on the
because prolonged immobilization leads to worsening osteo- long arm of chromosome 17, and COL1A2 (encoding for
porosis and may result in a cycle of fractures. pro-α2 [I]), located on the long arm of chromosome 7.
Combining these three chains into the triple helix begins at
the carboxy-terminal end and propagates toward the amino-
Osteogenesis Imperfecta terminal end. The process of alignment and assembly of the
triple helix is supported by endoplasmic reticulum–resident
Osteogenesis imperfecta is a genetic disorder of connective molecular chaperones such as GRP78, Serpin H1, and the
tissue with the clinical trademark of bone fragility, as evi-
denced by long bone fractures. Other major clinical features †
References 2, 10, 11, 106, 107, 109, 110, 113, 193, 272, 326, 327,
may include skeletal deformity, blue sclerae, hearing loss, 329, 358, 365, 511, 525, 544, 547.
and fragile opalescent teeth (dentinogenesis imperfecta). ‡
References 2, 80, 106, 109, 110, 111, 113, 148, 358, 377, 529.
In adults, valvular insufficiency and aortic root dilation §
References 2, 80, 106, 109, 110, 111, 113, 148, 358, 377, 529.

prolyl 3-hydroxylation complex, which consists of CRTAP,
P3H1, and PPIB. An essential feature of the pro-α chains
required for proper folding of the triple helix is a recurrent
pattern of glycine residues at every third peptide position
in the chain (Glycine-X-Y sequence). It is at these residues
that cross-linking of the three chains occurs. The type I
procollagen molecules are secreted from the cell and are
processed extracellularly to form the type I collagen
molecules (Fig. 42-26, A).
Collagen Metabolism in Osteogenesis Imperfecta
In almost 90% of patients with osteogenesis imperfecta, the
genetic defect is found in type I collagen α-chain genes. The
mutations can produce a qualitative or quantitative abnor-
mality of type I collagen formation. Type I collagen can be
assayed by performing gel electrophoresis of samples from
cultured dermal fibroblasts. The assay may show a quantita-
tive decrease in the amount of structurally normal type I
collagen because of a premature stop codon in the affected
allele (one copy of the gene involved) or frameshift muta-
tions. In this scenario, a patient who is heterozygous for the
condition will secrete approximately half the normal amount
of type I collagen (haploinsufficiency), with no abnormal
type I collagen identifiable (see Fig. 42-26, B). This is the
type of defect most commonly identified in type IA osteo-
genesis imperfecta in Sillence’s classification (see later,
“Classification and Heredity”).503 Rare types, with normal
type I collagen but more severe reductions in quantity
than the typical type I collagen (≤20%), have been
identified.110,503
Alternatively, there can be an error in substitution or
deletion, usually involving a glycine peptide residue some-
where along the polypeptide chain. In such a case, the
affected patient will produce a structurally or qualitatively
abnormal, less effectual collagen, generally in reduced
amounts. The severity of the disruption of function caused
by the structural abnormality of the collagen is in part
related to the location of the glycine residue error. Substitu-
tions at the carboxy end of the polypeptide chains are
potentially more serious because cross-linking of the triple
helix begins at the carboxy terminal of the chains. In general,
patients with mutations that affect glycine residues and the
quality of a collagen α chain have more severe skeletal
involvement than patients with haploinsufficiency muta-
tions.439 This type of defect, which impairs the function of
type I collagen, is the more commonly identified defect in
Sillence’s types II, III, and IV (see later, also see Fig. 42-26,
C). Patients with the most severe or lethal varieties tend to
have the coding defect at the carboxy end of the pro-α1 (I)
or pro-α2 (I) chains.
In addition to type I collagen mutations affecting its
quantity or quality, other gene mutations, which produce
recessive osteogenesis imperfecta (types VI, VII, VIII, IX,
X, XI), have been identified. These include genes that
encode the components of the collagen 3-hydroxylation
complex, which play a role in the assembly of the triple
helix. Collectively, the recessive form probably accounts for
less than 5% of cases of osteogenesis imperfecta.
Classification and Heredity
The identification of more than 280 specific locations
of disruptions in genetic coding for type I collagen has
CHAPTER 42  Metabolic and Endocrine Bone Diseases e609
improved our understanding of the nature and variability of
the clinical manifestations but has not simplified the clas-
sification process. Variability in the natural history, time of
onset, different patterns of inheritance, relatively high inci-
dence of spontaneous mutations, and variability in clinical
severity, even when the mode of inheritance is known,
further compromise the effectiveness of classification
schemes. Two classification schemes, those of Sillence and
associates501-503 and Shapiro,495 are clinically useful despite
their limitations.
In 1979, Sillence and Danks delineated four distinct
types of osteogenesis imperfecta based on clinical and
genetic characteristics (Table 42-2).502 In their original
description, four types were described and identified as
autosomal dominant (types I and IV) or autosomal recessive
(types II and III).502 More recent work on the nature of type
I collagen disorders and the molecular genetic basis for
these disorders has elucidated the nature of the genetic
defect, and true autosomal recessive transmission is rare in
this condition.110 Cole has recommended modification of
the original Sillence classification based on an extensive
review of the collagen defect in 200 patients with osteogen-
esis imperfecta. Discoveries of noncollagen gene defects
causing osteogenesis imperfecta and histologic features
dissimilar to those of the conventional types have led to
the addition of types V to XI to osteogenesis imperfecta
nosology.174 Type V has autosomal dominant transmission,
whereas types VI to XI have recessive transmission. It is
important to note that these latter types collectively account
for approximately 5% of cases of osteogenesis imperfecta.
Osteogenesis Imperfecta Type I
Osteogenesis imperfecta type I is characterized by general-
ized osteoporosis, with abnormal bony fragility, distinct blue
sclerae throughout life, and presenile conductive hearing
loss. This is the most common type of osteogenesis imper-
fecta in most series, and type I patients are, in general, the
least affected in terms of the incidence of fractures and
bone deformity. Fractures generally occur during the ambu-
latory stage of child development and decrease after puberty.
This type is inherited as an autosomal dominant condition,
although spontaneous mutations occur. Molecular genetic
studies have revealed that this type is characterized by a
quantitative defect in type I collagen.‖
Specifically, one of the inherited COL1A1 genes in
affected patients will not produce effective mRNA for pro-
α1 collagen, so the amount of type I collagen is effectively
reduced to approximately 50% of the normal amount.
However, that 50% is structurally normal, and no mutant
type I collagen is detectable by electrophoretic tech-
niques.110 Dentinogenesis imperfecta is present in some of
these patients. Those without dentinogenesis imperfecta
are subclassified as having osteogenesis imperfecta type IA,
and those with dentinogenesis imperfecta are classified as
having type IB.
Osteogenesis Imperfecta Type II
Type II osteogenesis imperfecta is characterized by extreme
bone fragility. Type II patients are almost invariably stillborn
or die shortly after birth. The long bones are crumbled
‖
References 2, 38, 109, 110, 113, 148, 358, 529, 545, 582.
e610 SECTION VII  Other Orthopaedic Disorders

Fibroblast Collagen triple helix Fibroblast Collagen triple helix

α1 α1
Nucleus α1 Nucleus
α2 α2
Glycine cross-link Glycine cross-link

50%

α1 α1 α1 α1

α2 α2

A B
Chromosome 17 Chromosome 7 Chromosome 17 Chromosome 7

Fibroblast Mutant collagen triple helix

α1
Nucleus α1
α2
Missing
glycine cross-link

Mutant 1 α1

α2

C
Chromosome 17 Chromosome 7
FIGURE 42-26  Schematic representation of normal and abnormal collagen formation. A, Normal type I collagen formation. Two pro-α1 (I)
(encoded by COL1AI on chromosome 17) and one pro-α2 (I) (encoded by COL1A2 on chromosome 7) polypeptide chains form a
left-handed triple helix, beginning at the carboxy end and continuing to the amino end. Cross-linking occurs at glycine residues located
at every third position in the chains. The procollagen molecule is then secreted from the endoplasmic reticulum into the extracellular
matrix, where coalescence into the complete type I collagen fiber continues. B, Quantitative defect typified by Sillence type IA
osteogenesis imperfecta. There is a stop codon for one of the COL1AI genes, which results in no mRNA from that gene. As a result,
normal pro-α1 polypeptide chains are produced in levels approximately 50% of normal, with the subsequent production of ≈50% of
the normal amount of type I collagen. The collagen produced is electrophoretically normal, and no abnormal collagen is detectable.
C, Formation of mutant type I collagen from some defect in COL1AI or COL1A2. Skips or substitutions for glycine occur at some point
along the polypeptide chains encoding for pro-α1 or pro-α2. The mutant polypeptide chain results in poorer cross-linking. Defects closer
to the carboxy terminal are potentially more serious because triple helix formation begins at this end. The mutant procollagen is usually
produced in reduced amounts, so there is a qualitative and quantitative deficiency of type I collagen. This type of defect is typical of
Sillence types II, III, and IV osteogenesis imperfecta.
 Table 42-2  Classification of Osteogenesis Imperfecta Syndromes
Presenile
Bone Deformity of Growth Hearing
Type Inheritance Teeth Fragility Long Bones Retardation Loss (%) Prognosis Sclerae Spine Skull Other Incidence

IA Autosomal Normal Variable, Moderate Short stature, 40 Fair Distinctly blue Scoliosis and Wormian Premature 1/30,000
dominant less 2%-3% throughout kyphosis bones on arcus
severe below mean life in 20% radiographs senilis
than
other
types
IB Autosomal Dentinogenesis Variable, Moderate Short, 2%-3% 40 Fair Distinctly blue Scoliosis and Wormian Premature 1/30,000
dominant imperfecta less below mean throughout kyphosis bones on arcus
severe life in 20% radiographs senilis
than
other
types
II Autosomal Unknown Very Crumbled Unknown Perinatal death Blue Marked 1/62,000
recessive (because of extreme bone (because of absence of live
perinatal (accordion perinatal ossification births
death) femora) death)
marked
III Autosomal Dentinogenesis Severe Progressive Severe, smallest Nonambulatory, Bluish at birth, Kyphoscoliosis Hypoplastic, Very rare
recessive imperfecta bowing of of all wheelchair- become more
the long patients bound; may less blue ossified
bones and with die in third with age, than in
spine osteogenesis decade white in type II,
imperfecta adult wormian
bones
IVA Autosomal Normal Moderate Moderate Short stature Low Fair Normal Kyphoscoliosis Hypoplastic, Unknown
dominant frequency wormian
bones
IVB Autosomal Dentinogenesis Moderate Moderate Short stature Low Fair Normal Kyphoscoliosis Hypoplastic, Unknown
dominant imperfecta frequency wormian
bones

Adapted from Sillence DO, Danks DM: The differentiation of genetically distinct varieties of osteogenesis imperfecta in the newborn period, Clin Res 26:178, 1978.
e612 SECTION VII  Other Orthopaedic Disorders
(accordion femora) from in utero fractures, and ossification
of the skull is markedly delayed; on palpation, the cranial
vault feels like numerous small plates of bone. Originally,
this condition was thought to be inherited as an autosomal
recessive trait.483 However, work on the nature of type I
collagen disturbance has revealed that the defect in most
cases is a severe disruption in the qualitative function of
type I collagen.¶
In most cases the condition is inherited as a dominant
negative condition, often as the result of a spontaneous
mutation; many different mutations have been described.110
This pattern of inheritance is more in keeping with the
risk of recurrence in subsequent pregnancies of couples with
a previously affected fetus. If the condition were inherited
as an autosomal recessive trait, the risk in subsequent preg-
nancies should be approximately 25% or, if caused by a
spontaneous mutation, essentially 0%. The risk of having a
subsequent affected fetus has been estimated at approxi-
mately 7%. In these situations, one of the parents was
identified as being mosaic for the dominant negative gene,
which accounts for the low but present risk. For a discussion
of diagnostic evaluations for identifying an affected fetus,
see later (“Prognostication and Parental Counseling: Ante-
natal Diagnosis”).
Osteogenesis Imperfecta Type III
This variety of osteogenesis imperfecta is characterized by
severe bone fragility, multiple fractures and progressive
marked deformity of the long bones, and severe growth
retardation.109,110,501,503 Types III and IV patients are more
severely affected than most type I patients and constitute
most patients with severe deformity and frequent fractures;
they may require extremity intramedullary rodding and
have more difficulty ambulating or are unable to do so. Type
III may have qualitative and quantitative changes in type I
collagen and may be inherited as an autosomal recessive or
dominant negative trait.2,109,110,113,358,377 These patients typi-
cally have triangular facies, frontal bossing, extremely short
stature, and vertebral compression. They may also have
basilar invagination and scoliosis. A higher prevalence of
coxa vara is seen in this type.1
The sclerae are bluish at birth but become less blue with
age. In adolescents, the sclerae are of normal hue. The most
severely affected surviving patients often have this type of
disease.
Osteogenesis Imperfecta Type IV
Osteogenesis imperfecta type IV has heterogeneous sever-
ity that overlaps with types I and III. It is from this hetero-
geneous group that patients with type V, VI, or VII
osteogenesis imperfecta have been identified over the past
2 decades. Type IV osteogenesis imperfecta is inherited as
an autosomal dominant condition, and most patients, like
those with types II and III, have qualitative and quantitative
changes in type I collagen. At birth the sclerae are of normal
hue; if they are bluish, they become progressively less so
with maturation and are normal in adolescence. The osteo-
porosis, bone fragility, and long bone deformities are of
variable severity. Dentinogenesis imperfecta also occurs in
some affected individuals; those with normal dentition are
¶
References 2, 106, 109, 110, 112, 113, 148, 358, 529.
classified as having type IVA disease and those with den-
tinogenesis imperfecta as having type IVB disease.
Osteogenesis Imperfecta Type V
A mutation in the 5′-untranslated region of a gene encoding
interferon-induced transmembrane protein 5 (IFITM5) has
been shown to cause type V disease.100,493 Hypertrophic
callus after fracture, a radiodense band adjacent to the
physis of long bone, and calcification of the interosseous
membrane between the radius and ulna are the three key
features of this type.199 A key histologic feature is the mesh-
like appearance of the lamellar bone. Patients have white
sclera, absence of dentinogenesis imperfecta, and radial
head dislocation. The severity of the disease in terms of
bone deformation ranges from mild to moderate.
Osteogenesis Imperfecta Type VI
Type VI is distinguished from other types by its distinct
histologic feature seen on bone biopsy samples. The lamellar
bone has a fish scale pattern instead of a layered pattern
when examined under polarized light microscope, and fea-
tures of severe mineralization defect are found.200 Patients
have white sclerae and do not have dentinogenesis imper-
fecta. The severity of skeletal deformity can be moderate
to severe. SERPINF1, which encodes pigment epithelium-
derived factor (PEDF), has been identified as the causative
gene for this type.236
Osteogenesis Imperfecta Types VII, VIII, and IX
These three types have in common a defect in the prolyl
3-hydroxylation complex in the endoplasmic reticulum,
which plays a crucial role in the assembly of the triple helix
by posttranslational modification of specific proline residues
in unfolded collagen α-chains. Components of the complex
include cartilage-associated protein (CRTAP), prolyl 3-
hydroxylase 1 (encoded by LEPRE1), and peptidyl-prolyl
cis-trans isomerase B (PPIB) which are the causative genes
for types VII, VIII, and IX disease, respectively.174,362,549 All
three types have autosomal recessive transmission. Clini-
cally, type VII disease is associated with rhizomelia, moder-
ate to severe skeletal involvement, and growth deficiency.
Type VII was first described in the families of First Nations
people in northern Quebec. Null mutations in CRTAP
are lethal. Type VIII disease can also be severe or lethal
and is associated with rhizomelia; it was first described in
South African blacks. Type IX disease is similar in severity
to types VII and VIII diseases but does not produce
rhizomelia.
Osteogenesis Imperfecta Types X and XI
Types X and XI disease are caused by defects in SERPINH1
and FKBP10, respectively.7,103 These are so-called collagen
chaperons that bind and accompany the procollagen mole-
cule from the endoplasmic reticulum to the Golgi appara-
tus. Type X disease is associated with severe bone dysplasia,
blue sclera, dentinogenesis imperfecta, transient skin bullae,
pyloric stenosis, and renal stones. Type XI disease is associ-
ated with bone dysplasia, ligamentous laxity, platyspondyly,
and scoliosis. Sclerae and teeth are normal.
One of the problems for the orthopaedic surgeon and
the families of patients with osteogenesis imperfecta is the
significant variability in the severity of long bone deformity

and fracture frequency in the Sillence classification catego-
ries. Even within families, whose members presumably
share the same genetic defect, one sibling may have only a
few fractures whereas another may have repeated fractures,
deformity requiring intramedullary rods, and difficulty
ambulating without lower extremity bracing or an upper
extremity aid. Because of this practical problem, clinical
classifications based on the age at onset and severity of
fractures still have prognostic relevance for orthopaedic sur-
geons and affected individuals.
Looser in 1906310 classified osteogenesis imperfecta into
two types, osteogenesis imperfecta congenita, characterized
by the presence of numerous fractures at birth, and osteo-
genesis imperfecta tarda, in which the fracture(s) occur
after the perinatal period.310 Shapiro recommended a
further modification of Looser’s classification495 consisting
of four categories—congenita A, congenita B, tarda A, and
tarda B. This classification has excellent practical applica-
tion for the orthopaedic surgeon and families of affected
individuals in regard to prognosis for survival and ambula-
tion. Shapiro classified patients as having osteogenesis
imperfecta congenita if they had fractures in utero or at
birth, whereas Looser310 and other authors used congenita
only for in utero fractures. The distinction between the two
congenita types is based on the timing of the fracture and
radiographic features of the affected bones. Patients with
congenita A sustain fractures in utero or at birth, with the
additional radiographic features of crumpled long bones,
crumpled ribs with rib cage deformity, and a fragile skull
(Fig. 42-27). These features are incompatible with life, and
the patients are almost always stillborn or die shortly after
birth from intracranial hemorrhage or respiratory insuffi-
ciency. Patients with congenita B have fractures at birth but
are radiographically distinct from congenita A patients in
that the long bones, as typified by the femur, are more
tubular and have more normal funnelization in the metaph-
ysis, the ribs are more normally formed (although there may
be rib fractures), and there is no rib cage deformity. These
patients are severely affected, but this type is compatible
with survival. Patients with tarda A have an onset of
FIGURE 42-27  Radiograph showing crumpled femora and lack of
normal funnelization of the long bone in a child with osteogenesis
imperfecta, Sillence type II, and Shapiro congenita A. This form is
almost universally fatal inasmuch as the child is stillborn or dies in
the neonatal period as a result of intracranial hemorrhage or
respiratory insufficiency.
CHAPTER 42  Metabolic and Endocrine Bone Diseases e613
fractures before walking. The age at onset of fractures was
not prognostic for ambulation within this group in Shapiro’s
study. Patients with tarda B suffer their first fracture after
walking age; all these patients were ambulatory in Shapiro’s
study.
Incidence
The exact incidence of the various types of osteogenesis
imperfecta is uncertain. The population frequency of type
I has been estimated as being approximately 2.35/100,000
in Japan, 4.7/100,000 in Germany, and 3.4/100,000 in Vic-
toria, Australia. The birth incidence of type II has been
estimated at 1/40,000 to 1.4/100,000 live births.501,502,503
At present, the exact incidence of types III and IV is
unknown,547 but they are less common than type I in most
clinical series. In Cole’s review of 200 patients, 28 patients
had type IA (2 had type IB and 1 had type IC), 49 had type
II, 41 had type III, and 79 had type IV.110
In Shapiro’s review of 85 patients, 16 patients had con-
genita A, 27 had congenita B, 21 had tarda A, and 21 had
tarda B.
Pathology
The fundamental defect in approximately 90% of the
patients with osteogenesis imperfecta is an absolute reduc-
tion in the amount of normal type I collagen in bone or its
replacement with a poorly functioning mutant collagen,
usually also reduced in quantity. That defect is manifested
histologically in many ways.#
The formation of enchondral and intramembranous bone
is disturbed. Histologic findings vary according to the type
of osteogenesis imperfecta. The morphology of the cells and
matrix is not consistent throughout the spectrum of the
syndrome. The amount of woven bone is greater than in
normal controls, and histometric analyses have shown that
in type II, the proportion of primitive osseous tissue with a
woven or irregular collagen matrix is significantly higher
than in other types.77,143
The bone trabeculae are thin and lack an organized tra-
becular pattern. Fractured spicules of trabeculae may be
found. The spongiosa is scanty. The intracellular matrix is
reduced and, as a result, there is a relative abundance of
osteocytes (Fig. 42-28).78 The osteoclasts are morphologi-
cally normal, although they seem to be numerous and have
an increased number of resorption surfaces.
Osteoid seams are wide and crowded by plump osteo-
blasts. The mineralized chondroid lattice is surrounded by
wide seams of basophilic substance.136,143 This large number
of osteoblasts and osteoclasts, the large size of the osteo-
blasts, and the plentiful osteoid tissue covering the thin
bone trabeculae indicate increased bone turnover. Tetracy-
cline labeling studies have confirmed the increased bone
turnover in osteogenesis imperfecta,11,35 although normal or
decreased bone turnover was noted in eight adult patients
with Sillence type IA osteogenesis imperfecta.336
The lamellae in lamellar bone are thin and tenuous. In
type V, lamellae have a meshlike appearance. In type VI,
the lamellae have a fish scale appearance under polarized
light microscopy. On electron microscopy, the collagen
fibrils do not aggregate in bundles of normal thickness;
#
References 12, 35, 40, 77, 78, 143, 153, 336, 453.
e614 SECTION VII  Other Orthopaedic Disorders

FIGURE 42-28  Histologic appearance of osteogenesis imperfecta.

There is a relative abundance of osteocytes with reduced
extracellular matrix. Osteoclasts are normal morphologically and
normal or increased in number, with an increased number of
resorption surfaces (H & E).

instead, they are organized into thin, loosely compacted fila-

ments.143,526 The compact bone consists of a coarse fibrillary
type of immature bone, without haversian systems. Perios-
teum and perichondrium are generally normal, but in one
study the periosteum was thickened, with a defective FIGURE 42-29  The skeleton in severe osteogenesis imperfecta.
microvascular system.382 The physis is usually broad and
irregular, the proliferative and hypertrophic zones are dis-
organized, and the typical columnar arrangement is lacking.
The calcified zone of the growth plates is thinner, and meta-
physeal blood vessels permeate the growth plate.77 Islands
of cartilage are present in the juxtaphyseal metaphyseal
region. Sanguinetti and associates483 observed that biopsy
specimens from patients with type II osteogenesis imper-
fecta had a relatively normal appearance of the growth
plate, but in specimens from patients with types I and III
disease they noted reduced cartilage matrix calcification,
thin, newly formed bony trabeculae, and decreased glycos-
aminoglycan staining within the growth plate.483
The primary spongiosa in the metaphysis is sparse,
with the osseous tissue almost always of the woven variety.
The secondary centers of ossification in the epiphysis are
delayed in maturation, and residual islands of cartilage
remain in the epiphysis. When a fracture is present, the
endosteal fracture callus is primarily cartilaginous, and the
periosteal reaction is abundant and consists mainly of
woven bone.
Gross anatomic findings consist of porosis (osteopenia),
diminution in size, and skeletal deformities secondary to
fracture and asymmetric physeal growth disturbance (Fig.
42-29) corresponding to the degree of bone fragility.78 In
severely affected individuals, the long bones are slender and
smaller than normal and the cortices are extremely thin,
with a paucity of medullary spongy bone and evidence of
recent or healed fractures, with varying degrees of angular
or torsional deformities. The cartilaginous epiphyseal ends
of the long bones in general retain a recognizable shape but
are disproportionately large and have some irregularity of
the articular surface.
The spine may show varying degrees of deformity, usually FIGURE 42-30  The spine in severe osteogenesis imperfecta.
scoliosis, often with compression fractures and wedging The vertebral bodies are biconcave and wedge-shaped, which
of the vertebral bodies (Fig. 42-30). Kyphosis may be has resulted in kyphoscoliosis.

combined with scoliosis. In the skull multiple centers of
ossification occur, particularly in the occipital region, and
wormian bones are seen.
Clinical Features
The clinical picture varies according to the type of the
disease. In the severe congenital form (Sillence type II or
Shapiro congenita A), multiple fractures from minimal
trauma during delivery or in utero cause the limbs to be
deformed and short. Crepitation can be demonstrated by
palpation at fracture sites. The skull is soft and membra-
nous. As noted, death usually ensues secondary to intracra-
nial hemorrhage or respiratory insufficiency caused by
incompetency of the rib cage.
In the nonlethal forms of the disease (Sillence types I,
III, and IV), fragility of the bones is the most outstanding
feature. In severely affected patients (types III and IV),
fractures can occur after the slightest injury. In general, the
earlier that fractures occur, the more severe the disease
and, according to Shapiro, this has direct prognostic signifi-
cance for ambulation.495 The lower limbs are more fre-
quently affected because they are more prone to trauma.
The femur is more commonly fractured than the tibia.
The pattern of fracture depends on the nature of the
trauma, severity of the bone fragility, and presence of pre-
existing deformity acting as a stress concentrator. Any frac-
ture pattern may be seen in osteogenesis imperfecta, and
no particular pattern is specifically diagnostic of osteogen-
esis imperfecta.133 Fractures heal at a normal rate; non-
union is relatively rare but does occur.185,360,456 Fracture
callus is typically wispy, but on rare occasion it may be very
large and hyperplastic, similar to osteogenic sarcoma on
radiographs.*a
A pattern of repeated fractures can develop as the result
of a combination of disuse osteopenia, progressive long
bone deformity, and joint stiffness from immobilization.
Growth may be arrested by multiple microfractures at the
epiphyseal ends. The frequency of fractures declines
sharply after adolescence, although it may increase again in
postmenopausal women. Bowing results from multiple
transverse fractures of the long bones and muscle contrac-
tion across the weakened diaphysis. Typically, an anterolat-
eral bow or proximal varus deformity of the femur develops;
an anterior or anteromedial bow of the tibia may develop.
Acetabular protrusion (Otto pelvis) may be present; in one
reported case this resulted in colonic obstruction.562 The
humerus is usually angled laterally or anterolaterally. The
forearm may be in minimal pronation, and its rotation
is often severely limited. Angulation is generally greater
in the upper part of both bones of the forearm. The
elbow joint has cubitus varus with flexion contracture. In
type V patients, forearm rotation may be limited by calci-
fication of the interosseous membrane between the radius
and ulna.
The forehead is broad, with prominent parietal and tem-
poral bones and an overhanging occiput. The bulging calvaria
causes facial-cranial disproportion, which gives the face a
triangular, elfin shape. The ears are displaced downward and
outward. The configuration of the skull in osteogenesis
*aReferences 2, 18, 30, 32, 35, 79, 159, 266, 292, 331, 335, 452, 527,
550.
CHAPTER 42  Metabolic and Endocrine Bone Diseases e615
imperfecta has been likened to that of a soldier’s helmet
and is called helmet head.
Severe spinal deformity may develop because of the
combination of marked osteoporosis, compression fractures
of the vertebrae, and ligamentous hyperlaxity.†a
The resultant scoliosis, kyphosis, or both, may be very
severe and disabling. Scoliosis is present in 20% to 40% of
patients. The most common type of curve is thoracic scolio-
sis. In some patients, spondylolisthesis develops as a result
of elongation of the pedicles, without any actual break in
the pars interarticularis. Cervical spinal fracture or instabil-
ity is relatively rare but does occur,353,407,467,588 including
patients with associated cervical neurologic injury.407,588 A
more commonly reported cervical anomaly is basilar
impression.‡a
In osteogenesis imperfecta this condition may be caused
by infolding of the margins of the foramen magnum or
upward migration of the odontoid process and results in
compression of the brainstem and probably altered cerebro-
spinal fluid dynamics. Symptoms are highly variable but
include headaches, ataxia, cranial nerve dysfunction, and
paraparesis. Anterior or posterior decompression (or both)
may be required.
Short stature is commonly caused by deformities in the
limbs from angulation and overriding of fractures, growth
disturbance at the physes, and the marked kyphoscoliosis.
Hyperlaxity of ligaments with resultant hypermobility of
joints is common. Pes valgus is a frequent physical finding.
Recurrent dislocation of the patellofemoral joint may occur.
The radial head and hip joint may occasionally be dislo-
cated. Developmental dysplasia of the hip can occur144;
unfortunately, femoral fractures resulting from screening
for the condition also have been reported.403 Infants sus-
pected of having osteogenesis imperfecta must have their
hips examined very gently, and physical examination should
be supplemented by ultrasound examination whenever nec-
essary. Adults may be predisposed to rupture of the patellar
ligament or Achilles tendon.133,387
The muscles are hypotonic, most likely because of the
multiple fractures and deformities. The skin is thin and
translucent, and subcutaneous hemorrhages may occur. As
a rule, surgical scars tend to be wide.
Blue sclerae are one of the best-known manifestations of
osteogenesis imperfecta92 but, as noted earlier, are not
present in all types. The blueness of the sclera is caused by
the thinness of its collagen layer secondary to decreased
production of type I collagen. Normal-colored sclerae in
patients with osteogenesis imperfecta have normal collagen
thickness, but that collagen is abnormal. The so-called
Saturn ring, a frequent finding, is caused by a white sclera
immediately surrounding the cornea. Hyperopia is fre-
quently present, but vision generally remains unaffected.
An opacity in the periphery of the cornea, known as embryo-
toxon or arcus juvenilis, is common. Retinal detachment
may occur.
The teeth are affected in patients with types IB and IVB
disease as a result of a deficiency in dentin.47,301 The enamel
is essentially normal because it is of ectodermal, not mes-
enchymal, origin. Both deciduous and permanent teeth are
†a
References 45, 46, 116, 149, 197, 233, 247, 263, 360, 445, 586.
‡a
References 177, 219, 244, 282, 333, 425, 468.
e616 SECTION VII  Other Orthopaedic Disorders
FIGURE 42-31  Dentinogenesis imperfecta. The dentin is
opalescent and the teeth are fragile, and are prone to caries,
wearing down, and fracture.
involved. They break easily and are prone to caries, and
fillings do not hold well. A yellowish brown or translucent
bluish gray discoloration of the teeth is common (Fig.
42-31). The lower incisors, which erupt first, are the most
severely affected. Dentinogenesis imperfecta, also called
hereditary opalescent dentin or hereditary hypoplasia of the
dentin, can exist as an isolated condition,42 so the diagnosis
of osteogenesis imperfecta must be made on criteria other
than the presence of affected teeth alone.
Deafness may occur in osteogenesis imperfecta, usually
beginning in adolescence or adulthood.497 It is present in
40% of those with type I disease and is lower in frequency
in type IV disease. Hearing loss may be of the conduction
type, secondary to otosclerosis, or of the nerve type, caused
by pressure on the auditory nerve as it emerges from the
skull. Otosclerosis results from abnormal proliferation of
cartilage, which on ossification produces sclerosis of the
petrous portion of the temporal bone.213
Some patients, particularly those with type III disease,
complain of excessive sweating, thought to be caused by a
resting hypermetabolic state.118,472 This excessive perspira-
tion is associated with heat intolerance and difficulty toler-
ating orthoses and can lead to chronic constipation.227 A
related problem is the possible susceptibility of patients to
the development of malignant hyperthermia during general
anesthesia. The development of increased temperature,
metabolic acidosis, and cardiac arrhythmia suggesting this
diagnosis has been reported.303,424,433,470 However, results of
an in vitro contracture test for malignant hyperthermia were
completely normal in muscle obtained from biopsy in one
such affected patient.424 The surgeon and anesthesiologist
must be aware of the potential for such untoward intraop-
erative problems.
Radiographic Findings
Severe Form
Radiographic findings in patients with Sillence type II
disease or Shapiro congenita A are striking at birth. The long
bones of the limbs are short and wide, with thin cortices.
The diaphyses are as wide as the metaphyses. Shapiro noted
that this appearance is an important distinction from the
congenita B type, in which the metaphyses of the femur
FIGURE 42-32  Appearance of popcorn calcifications in the distal
femur, as seen in severe osteogenesis imperfecta.
have more normal funnelization.495 There are numerous
fractures, some recent and others in various stages of
healing. Multiple rib fractures and atrophy of the thoracic
cage may simulate the findings in asphyxiating thoracic dys-
plasia. The presence of rib cage deformity is the other
important radiographic feature distinguishing congenita A
from congenita B disease.
Goldman and co-workers described so-called popcorn
calcifications in the metaphyseal and epiphyseal areas of
long bones close to the growth plate that appeared as clus-
tered collections of rounded or scalloped radiolucencies,
each with a sclerotic margin and some with central radi-
opacities (Fig. 42-32).201 These collections have been
referred to in the literature as “whorls of radiodensities.”
They probably represent traumatic fragmentation of the
cartilaginous growth plate.78,201 The popcorn calcifications
appear in childhood and usually resolve after the comple-
tion of skeletal growth. They are more frequent in the lower
than in the upper limbs and more common in the severe
congenital type of disease. Their appearance parallels the
development of growth plate irregularity. With a growth
spurt, popcorn calcifications increase in number. In a
severely affected nonambulatory child, as typified by con-
genita B patients, the lack of normal stress will give rise to
a cystic honeycomb pattern in the long bones.
The skull has a mushroom appearance with a very thin
calvaria. There is a marked paucity and delay in ossification.
Wormian bones, described by a Danish anatomist, Klaus
Wormius, in 1643, are a salient radiographic feature of
osteogenesis imperfecta.78 They are detached portions of
the primary ossification centers of the adjacent membrane
bones. To be significant, wormian bones should be more

C
than 10 in number, measure at least 6 × 4 mm, and be
arranged in a general mosaic pattern (Fig. 42-33). Cremin
and associates115 found wormian bones in all patients with
osteogenesis imperfecta but none in the normal skulls.109
Wormian bones may be present in other bone dysplasias,
such as cleidocranial dysplasia, congenital hypothyroidism,
pachydermoperiostosis, Menkes syndrome, and some triso-
mies,2 so their presence is not pathognomonic for osteogen-
esis imperfecta.
The spine shows marked osteoporosis; the vertebral
bodies are compressed and become biconcave between
bulging disks (Fig. 42-34). Scoliosis and kyphosis eventually
develop in most congenital severe forms of osteogenesis
imperfecta.
Milder Forms
In the milder forms of osteogenesis imperfecta, the radio-
graphic picture is that of osteoporosis: the cortices and
intramedullary trabeculae are thin. Fractures vary in fre-
quency and age at occurrence. Radiographs may show frac-
tures in various stages of healing. Fractures tend to heal and
remodel adequately in less severely affected patients. In
type V OI, hypertrophic calluses are found at the sites of
fractures. Radial head dislocation or subluxation is more
CHAPTER 42  Metabolic and Endocrine Bone Diseases e617
FIGURE 42-33  A to C, Radiographic
appearance of wormian bones of the skull in
a patient with osteogenesis imperfecta.
common in type V OI than other types.163 This type also
features a radiodense band adjacent to the growth plate of
long bones. Plastic bowing of long bones is common and is
caused by microfractures and stress fractures or malunion
of fractures. One lower limb may be in valgus deformation
and the other in varus deviation. In the hip, coxa vara and
acetabular protrusion may be found. The patellar joint,
radial head, or hip may dislocate. Platyspondyly and bicon-
cave vertebrae are common. Varying degrees of scoliosis and
kyphosis develop in up to 40% of cases.
In adolescence or adult life, basilar impression of the
foramen magnum into the posterior cranial fossa may
develop.§a
Laboratory Findings
In osteogenesis imperfecta, serum calcium and phosphorus
levels are normal. The alkaline phosphatase level may be
elevated.
In general, the diagnosis of osteogenesis imperfecta can
be made with a positive family history and the presence of
typical clinical and radiographic signs of the condition.
§a
References 149, 177, 219, 244, 263, 282, 333, 425, 468.
e618 SECTION VII  Other Orthopaedic Disorders
A B
FIGURE 42-34  The spine in an adolescent with osteogenesis imperfecta. Note the structural scoliosis and collapsed vertebrae.
A, Anteroposterior radiograph of the spine showing structural scoliosis. B, Lateral radiograph of the dorsal spine showing osteoporosis
and biconcave vertebrae.
However, spontaneous mutations in affected individuals,
especially in patients who may be mildly affected, with
white sclerae, may make the diagnosis more difficult. Elec-
trophoretic analysis of type I collagen obtained from fibro-
blasts cultured from the skin biopsy specimen or DNA
analysis for type I collagen gene can facilitate the diagnosis
in approximately 90% of suspected cases of osteogenesis
imperfecta. However, if osteogenesis imperfect is caused by
a noncollagen gene defect, the biochemical or DNA analysis
for type I collagen defect will be negative.
Differential Diagnosis
In the newborn period and in early infancy, Sillence type II
osteogenesis imperfecta should be distinguished from con-
genital hypophosphatasia. In the latter, a lethal affliction,
laboratory tests will show a low phosphatase level in serum,
lack of alkaline phosphatase activity in leukocytes, and
excessive excretion of phosphorylethanolamine in urine.
In an infant, osteogenesis imperfecta and achondroplasia
are frequently confused clinically because an enlarged head
and short limbs are common to both conditions. Radio-
graphs will easily distinguish between them. Camptomelic
dwarfism may be mistaken for osteogenesis imperfecta
because of the congenital bowing and angulation of the long
bones. Fractures, however, are not a feature of this type of
dwarfism. The presence of osteoporosis and a proclivity to
fracture in cystinosis may suggest osteogenesis imperfecta.
Patients with pyknodysostosis may have a propensity to
fracture. Patients with this condition will have bony sclero-
sis evident on radiographs, persistently wide cranial fonta-
nelles, micrognathism with absence of the mandible,
hypoplasia of the clavicles, and osteolysis of the terminal
phalanges of the fingers. The diffuse osteopenia in the early
stages of leukemia, before the appearance of the typical
blood picture, may be mistaken for osteogenesis imperfecta.
Idiopathic juvenile osteoporosis may be very difficult to
distinguish from osteogenesis imperfecta; the former is
characterized by being a self-limited disorder and by its
onset a year or so before puberty. Osteoporosis and com-
pression fractures of the vertebrae may also be caused by
prolonged intake of steroids.
An important diagnosis to be considered in patients with
fractures is nonaccidental injury—that is, child abuse or bat-
tered child syndrome. Accusations of nonaccidental injury in
children subsequently proven to have osteogenesis imper-
fecta, a presumption of osteogenesis imperfecta in abused
children, and nonaccidental injury in children with osteo-
genesis imperfecta are all known to occur.24,134,268,403,405,533
Therefore the clinician must carefully assess each child with
suspicious fractures. A family history of disease, blue sclerae,
or the presence of dentinogenesis imperfecta will make this
distinction easy in some patients. The proper diagnosis of
milder forms of osteogenesis imperfecta, especially in
patients without a family history or obviously blue sclerae
(Sillence type III and IV, Shapiro tarda A and B), may be
more difficult. Other than the very severe multiple fracture
patterns, with or without rib and skull deformities that char-
acterize type II osteogenesis imperfecta, no particular frac-
ture pattern specifically substantiates or excludes the
diagnosis of osteogenesis imperfecta. Because a specific diag-
nosis is clinically important, skin biopsy for culture of fibro-
blasts and analysis of type I collagen may be required.328

Treatment
There is as yet no specific treatment to correct the basic
mutant gene defect in osteogenesis imperfecta. In the past,
efforts to medically induce stronger bone less prone to
fracture met with limited or no success. Important advances
have now been made in the medical treatment of osteogen-
esis imperfecta, including the use of bisphosphonates to
improve bone density. For severe disease, clinical trials using
allogeneic bone marrow transplantation have been per-
formed in a very limited number of patients with type III
disease.142,238 Although the results within the first 6 months
were promising, the duration of clinical improvement was
limited because of a low rate of donor marrow cell engraft-
ment. Mesenchymal stromal cell transplantation has also
been investigated in a small number of patients.237 Low
osteopoietic engraftment remains a significant barrier to
clinical success and the application of bone marrow and
mesenchymal stromal cell transplantation.
Medical Treatment
Until recently, efforts to improve bone strength by medical
means were largely unsuccessful. The administration of
sex hormones,90 sodium fluoride,3,52 calcitonin,89,379 calcium,
growth hormone, magnesium oxide, and vitamins D and C
were all attempted in the past, generally with no or mixed
results.
Considerable experience has been reported in the use of
bisphosphonates for children with osteogenesis imper-
fecta.23,43,180,198,242,298 These compounds inhibit osteoclastic
resorption of bone, which appears to be increased in patients
with osteogenesis imperfecta. Aminohydroxypropylidene
(pamidronate) has been studied extensively. It is adminis-
tered by the IV route in dosages ranging from 15 mg given
every 20 days43 to 7 mg/kg/yr given every 4 to 6 months,23
with reported improvement in generalized bone pain and a
reduced incidence of fractures.298 In addition, increased
bone mineral density as determined by dual-energy x-ray
absorptiometry has been noted.23,43,198,298 Transient fever
and increased serum calcium levels can occur during the IV
administration of this medication. Metaphyseal bands of
increased density are seen in radiographs after bisphospho-
nate treatment.210
Oral agents have also been used. Alendronate given over
a period of 4 years was associated with reduced frequency
of fracture and improved ambulatory or mobility status.
Bone mineral density was also improved.99 Olpadronate
treatment was effective in a randomized study in reducing
fracture risk and increasing bone mineral density.475 Equally
beneficial effects have been noted in children treated with
oral or IV bisphosphonates.139
Delayed healing of fractures or osteotomies has been
reported in children treated with pamidronate, although
others failed to find a correlation.372,420 The ideal treatment
of osteogenesis imperfecta would be to correct the basic
genetic defect by replacing the defective COL1A1 or
COL1A2 gene with a normal one. That capability, of course,
does not yet exist.
Orthopaedic Treatment
The goal of orthopaedic treatment is to maximize the
affected patient’s function, prevent deformity and disability
CHAPTER 42  Metabolic and Endocrine Bone Diseases e619
resulting from fractures, correct deformities that have
developed, and monitor for potential complicating condi-
tions associated with osteogenesis imperfecta. In addition,
the orthopaedist should be able to provide realistic
expectations of disability and mobility to the family of an
affected infant. These goals can be analyzed according to
prognostication for future mobility and complications, non-
operative rehabilitation, and specific management of frac-
tures, long bone deformity, spinal deformity, and basilar
impression.
Orthotic Treatment. The orthopaedist will be called on to
assist in the rehabilitation of infants with osteogenesis
imperfecta who survive the neonatal period. Infants with
birth fractures usually need only careful supportive handling
to prevent further injury. If long bone fractures are unstable,
minimal external splinting may be used to stabilize the
affected limb; such fractures will generally heal within 1 or
2 weeks. It is important to avoid excessive or prolonged
immobilization at any age because such treatment will
aggravate the osteopenia and induce joint stiffness, either
of which in turn increases the risk for fracture.
Protective bracing to prevent fractures and aid in ambu-
lation is a mainstay in the conservative management of
patients with osteogenesis imperfecta.‖a
Typically, lightweight plastic and metal hip-knee-ankle-
foot orthoses (HKAFOs) are required for effective lower
extremity bracing in the most severely affected patients.
These braces may allow patients to stand or walk, usually
with the upper extremity aids of crutches or a walker. In
addition, HKAFOs can reduce the incidence of lower
extremity fractures as compared with the incidence in
unbraced patients.191,192
Lightweight, air-filled, fluted trouser splints have been
reported to be an effective simple alternative to HKAFOs
for the purpose of allowing severely affected children to
stand.181,300,361 These splints are lighter than conventional
orthoses and easier to fit, provided that the child does not
have major lower extremity long bone deformity. However,
they are not in common use in North America.
Nonambulatory patients with osteogenesis imperfecta
are ideal users of motorized wheelchairs because they have
the intelligence to use them effectively and often have
upper extremity deformity or weakness that hinders the use
of standard wheelchairs. Custom inserts may be required
to support the trunk and accommodate the spinal defor-
mity. Such mobility aids should be made available to non-
ambulatory patients as soon as the child’s intellectual
development allows safe operation.
Management of Long Bone Fractures. Management of
long bone fractures depends on the severity of the fracture
and age of the patient. General management principles
are based on the observations that most fractures heal,
recurrent fractures are common, and inherent osteopenia
may be aggravated by prolonged immobilization, thus
making the patient even more susceptible to fracture. For
these reasons, fractures should be immobilized only until
symptoms resolve, with the minimum amount of external
immobilization required to provide comfort. Patients should
‖a
References 53, 54, 55, 60, 68, 127, 181, 191, 192, 300, 361.
e620 SECTION VII  Other Orthopaedic Disorders
A B
FIGURE 42-35  Olecranon fracture in a patient with mild osteogenesis imperfecta type I. A, Preoperative radiograph showing the typical
avulsion pattern of this fracture. B, Postoperative radiograph after open reduction and internal fixation with a tension band wiring
technique.
be encouraged to return judiciously to their usual level of
activity as soon as feasible. Radiographs are not always
required, especially if the fracture is not grossly unstable or
does not result in a new deformity. The patient’s immobi-
lization should be based on symptoms, and serial radio-
graphs are not generally necessary for minor fractures.
Frequently, children have pain suggesting a fracture but
radiographs show no evidence of one. These patients should
be immobilized as though a fracture were present, which is
almost certainly the case. Although a technetium-99m–
enhanced bone scan, MRI scans, or follow-up radiographs
can demonstrate fracture, these investigations are rarely
necessary and are of no help to the patient or physician in
management of the fracture. Often, the parents of a severely
affected child will not even seek medical assistance for
minor fractures because of the frequency of such fractures
and the confidence gained by the parent in treating the
infant or child symptomatically.
Fractures in a newborn, if unstable or interfering with
normal handling, may be splinted with padded tongue
depressors, padded aluminum splints, or plaster splints.
Usually only 1 or 2 weeks of splinting will be required until
the fracture has stabilized. Fractures in an older child or
adult, particularly when the patient has relatively minor
involvement, should be treated by means appropriate to the
fracture, including reduction and casting, percutaneous
pinning, and internal fixation. The operating surgeon must
exercise extreme caution in handling the patient and frac-
ture to prevent further fracture or fragmentation of the
fracture under treatment. As a general principle, intramed-
ullary fixation is preferable to plates and screws whenever
possible because of the stress risers produced by the latter.
The operating surgeon must be familiar with the techniques
and pitfalls unique to the use of intramedullary fixation in
patients with osteogenesis imperfecta (see later, “Manage-
ment of Long Bone Deformity”). Presumably, external fixa-
tion may also be used in these patients, when indicated, and
external fixation has been used to correct deformities in
patients with osteogenesis imperfecta.173,286,451 However,
the use of external fixation for fractures in patients with
osteogenesis imperfecta has not been described in the
literature, and the benefits and risks of this technique must
be carefully assessed by the treating surgeon.
Other than extreme fragility and crumpled long bone
deformities seen in severe cases of osteogenesis imperfecta,
no specific fracture pattern is unique to these patients.134
One fracture that occurs commonly, usually in more mildly
affected patients with Sillence type I disease, is a displaced
fracture of the olecranon; these fractures often occur bilat-
erally, although not usually simultaneously.136,332,369,526 They
can be managed by tension band wiring techniques, with
good restoration of function (Fig. 42-35).503
Nonunion is an uncommon sequela of fracture or surgery
in osteogenesis imperfecta, but it does occur. Gamble and
associates reported nonunions most commonly in the femur
and humerus, but also in the radius, ulna, and pubis.185 Nine
of 10 patients in their study had type III osteogenesis
imperfecta. Nonunion was associated with frequent frac-
tures and deformity. Eight of nine fractures healed after
intramedullary fixation and grafting, although one patient
with a supracondylar femoral nonunion required an amputa-
tion for pain relief.
Management of Long Bone Deformity. Long bone defor-
mity is one of the most frequent conditions requiring treat-
ment in patients with osteogenesis imperfecta. Its incidence
is generally related to the severity of the underlying bone
fragility, and thus it is more likely to be seen in Sillence
types III and IV, although this deformity is by no means
limited to these types. Long bone bowing is induced by
bone fragility, deforming muscular forces, and repeated
fractures and, in turn, results in repeated fractures. Thus
the most important indication for surgical correction of
long bone deformity is repeated fractures induced by the
deformity. A further indication for surgery is to remove the
deformity to allow bracing for protection against further
fractures or to aid in ambulation. It is not clear from
the literature, however, that correction of long bone
deformity alone results in long-term ambulation.127 Long
bone deformity in infants and children can be corrected
by closed osteoclasis without intramedullary fixation,361
by closed osteoclasis with percutaneous intramedullary
 CHAPTER 42  Metabolic and Endocrine Bone Diseases e621

FIGURE 42-36  Sofield procedure of fragmentation and intramedullary

fixation of a long bone. A, Preoperative appearance of the long bone
deformity. B, Intraoperative photograph showing multiple osteotomies
to allow straightening of the bone, with intramedullary fixation of the
A
fragments on a rod (see text).

fixation,179,338,354,355,471,500 and by open osteotomy with inter-
nal fixation.¶a
In addition, external fixation by the Ilizarov circular
fixator with wire fixation and osteotomy has been
used to correct long bone deformity in young adult
patients.173,286,451,477
Closed Osteoclasis Without Internal Fixation. Manual
osteoclasis of long bone deformity has been described361 and
is generally indicated in medically fragile children who may
not be able to tolerate the blood loss and other physiologic
stresses of a formal open operative procedure but whose
deformity creates management difficulties. In essence, the
treating physician gently manipulates the deformed bone
with the child under adequate sedation or anesthesia and
immobilizes the limb until union. This procedure is usually
followed by the application of protective bracing to help
prevent further fractures and recurrent deformity. The pro-
cedure is indicated only when one of the procedures
described in the following sections is not possible for any
reason.
Closed Osteoclasis With Percutaneous Intramedullary
Fixation. This procedure is essentially the same as the previ-
ous one, except that in addition to external manual correc-
tion of the deformity, the operating surgeon attempts to
splint the long bone by percutaneously threading a smooth
rod (Kirschner wire [K-wire], Steinmann pin, or Rush rod)
in an intramedullary fashion.179,338,354,355,471,500 This procedure
is also indicated for a patient who sustains repeated fractures
that interfere with care and in whom formal open fixation
is not feasible because of bone fragility. The basic surgical
technique is to thread a small-diameter smooth rod percu-
taneously within the intramedullary canal of an affected
bone while simultaneously bending or breaking the bone by
external compression to allow the rod to pass within the
intramedullary canal. Fluoroscopy and good fortune are
required. We prefer to manage patients conservatively until
their age, bone size, and medical stability allow them to
undergo open osteoclasis with intramedullary fixation.
Open Osteotomy With Intramedullary Fixation (Sofield
Procedure). A procedure entailing multiple diaphyseal oste-
otomies (fragmentation) with intramedullary fixation was
described for osteogenesis imperfecta by Sofield and Millar
in 1959.512 The indications for fragmentation and rodding
are a long bone deformity that interferes with fitting of
orthoses and impairs function and repeated fractures. These
indications are much more frequent in the lower than in
the upper extremity. The basic principle is to expose the
deformed bone subperiosteally, make appropriate wedge-
shaped osteotomies in the deformed metaphysis and diaph-
ysis to allow straightening of the bone, and fix the fragments
on an intramedullary rod of some sort to maintain alignment
and provide long-term internal splinting of the fragile bone
(Fig. 42-36). Much has been written about the technique
and the results achieved with different intramedullary
devices.#a
In general, reports are favorable in that deformity is cor-
rected and mobility maintained or achieved.*b
In a survey of adults, however, Daly and colleagues were
unable to demonstrate that intramedullary fixation had a
long-term influence with respect to maintaining the ability

¶a
References 26, 27, 75, 108, 126, 127, 150, 178, 187, 189, 255, 287,
311, 321, 322, 352, 373, 376, 378, 423, 455, 456, 457, 512, 524,
539, 570, 571, 572, 585, 587.
#a
References 26, 27, 75, 79, 88, 108, 126, 127, 150, 178, 179, 187,
189, 255, 287, 311, 321, 322, 335, 352, 354, 360, 373, 376, 378,
423, 455, 456, 457, 512, 524, 539, 570, 571, 572, 585, 587.
*bReferences 108, 150, 178, 255, 287, 311, 360, 376, 524, 570, 587.
e622 SECTION VII  Other Orthopaedic Disorders
to ambulate.127 Complications of the procedure include
nonunion, infection, and rod migration. These complica-
tions are nonetheless remarkably uncommon in the context
of a procedure that produces multiple devascularized seg-
ments of long bone.
Sofield and Millar used a fixed intramedullary rod (a
straight, round steel rod, Rush rod, or Küntscher rod) for
internal fixation.512 Others have used Rush rods311,360,423 or
Williams rods.571,572 The technique of Williams rod insertion
is described in Chapter 22. When a Williams rod is used in
the tibia, the rod is usually left embedded within the tibia
itself and not left across the ankle and subtalar joints. This
procedure must be undertaken with careful preoperative
planning and good communication among the orthopaedic
surgeon, operating room personnel, and anesthesiologist. All
parties must handle the fragile child carefully. Blood pres-
sure cuffs may not be advisable if humeral fragility is
extreme. The patient’s temperature will often rise during
surgery, and the patient should be kept cool. The anesthe-
siologist must be alert to temperature elevation, metabolic
acidosis, potential for cardiac arrhythmias, and possible
development of true malignant hyperthermia (see Chapter
8). Excessive bleeding requiring transfusion is a distinct
possibility. Patients with osteogenesis imperfecta tend to
bruise easily, and a bleeding diathesis may develop. The
surgeon will probably not be able to use a tourniquet during
extremity surgery. Extensive exposure of the deformed
bone will be necessary to perform corrective osteotomies,
and many trying technical challenges may arise as the
surgeon attempts to thread a series of fragile, macaroni-
shaped wisps of bone onto an unforgiving rod. Thus, when
surgery on both femora or on all four lower limb segments
is indicated, the operations may need to be staged to avoid
life-threatening hemorrhage.
The operating surgeon and staff must have available a full
assortment of lengths and breadths of the intramedullary
device to be used, as well as pliers and bolt cutters to
modify the device as needed during insertion. Fluoroscopy
should be available to help guide insertion when it is not
done under direct vision, such as through the epiphyses.
Extensive exposure of most of the length of the involved
bone is almost always required. The femur is approached
anterolaterally and the tibia directly anteriorly. Care should
be taken to identify the landmarks of the anterolateral
approach to the femur, especially the intermuscular septum.
Otherwise, excessive bleeding and damage to muscle will
result. Once the curved bone is exposed, the surgeon cuts
into it with a knife, rongeur, osteotome, or saw, as needed,
in as many places as necessary to create a straight diaphysis.
Although some have recommended preserving as much
periosteal insertion in the bone as possible to maintain blood
supply to the individual segments,524,570 nonunion or infec-
tion harbored by devascularized bone is surprisingly infre-
quent, and such preservation of the periosteal insertion may
not be important. Straightening the deformed limb will
result in soft tissue lengthening, so portions of bone may
have to be removed to avoid excessive soft tissue tension.
Intramedullary reaming is frequently required. The
surgeon should choose the narrowest bone fragment first
and ream with a drill bit of appropriate diameter. There
may be no medullary cavity. Beginning at one metaphyseal
or epiphyseal end, depending on the rod being used, the rod
is then advanced toward the other metaphysis, with the
bone fragments threaded on the rod as it is advanced. The
rod must be carefully sized for length before it is advanced
into the final segment and cut as necessary. In most cases,
rotational control of the bone is poor, and the patient should
be immobilized in a long-leg or spica cast. Weight bearing
in the cast should be encouraged as soon as feasible, and the
cast should be replaced with an HKAFO as soon as union
is evident radiographically.
Use of Extensible Intramedullary Rods. One of the prob-
lems that can develop with the use of a fixed-length intra-
medullary device in children is growth of the epiphysis
beyond the rod. In 1963, Bailey and Dubow introduced an
extensible intramedullary fixation rod to reduce the need
for reoperation because of bone overgrowing the rod (Fig.
42-37).27 The telescoping intramedullary rod consists of an
outer tubular sleeve with a detachable T-shaped end and an
inner obturator rod with a solid T-shaped end. The inner
rod can be entirely telescoped into the sleeve (Fig. 42-38).
The surgical approach to the femur and tibia and tech-
nique of fragmenting and stringing the diaphysis on the rod
are similar to those of Sofield and Millar. The bowed bone
is exposed subperiosteally from metaphysis to metaphysis.
Additional exposure of the epiphyses is required for inser-
tion of the T-piece for the outer rod and the inner, fixed
T-ended rod. In the femur, the intercondylar notch is
exposed by knee arthrotomy. Usually, only minimal expo-
sure of the upper end of the femur is required, in the region
of the greater trochanter. In the tibia, the tibial plateau is
exposed by knee arthrotomy. Access to the distal end of the
tibia is gained by arthrotomy and mobilization of the talus.
The latter is accomplished by dividing the deltoid ligament,
formally osteotomizing the medial malleolus (not generally
required or feasible because of bone fragility), or detaching
the insertion of the deltoid ligament along with a sliver of
medial malleolus with a knife.
The length of the outer rod must be carefully deter-
mined. The fragments may be directly measured, or the
limb may be gently pulled out to length and the distance
between the epiphyses measured. The outer rod should be
several centimeters shorter than the total length estimated
to be needed to allow some settling after surgery and maxi-
mize proper rod elongation. The outer rod has a detachable
T-piece and a like-diameter drill bit with a threaded base.
The drill bit can be threaded onto the outer rod in place of
the T-piece to facilitate insertion of the rod during surgery.
In the femur, the outer rod is generally placed proximally,
where the greater fracture stresses tend to occur. In addi-
tion, this T-piece can detach from the rod; this complication
is less of a problem if it occurs at the greater trochanter
than in the knee.
After a rod of appropriate length and diameter has been
selected, the most effective sequence of rod insertion for
the femur is as follows (Fig. 42-39):
1. The drill bit is inserted into the proximal end of the
outer rod.
2. Commencing from the distal end of the lowest meta-
physeal fragment if this is close to the epiphysis, or
from the intercondylar region of the distal femur, the
surgeon drives the outer rod proximally while thread-
ing the segments of bone on the rod as it is advanced.
 CHAPTER 42  Metabolic and Endocrine Bone Diseases e623

A B C D E
FIGURE 42-37  Use of a Bailey-Dubow extensible rod in the tibia. A, Preoperative lateral radiograph of the tibia of a boy with osteogenesis
imperfecta type I, repeated fractures, and anterior bowing of the tibial diaphysis. B, Postoperative anteroposterior (AP) view of the tibia.
Multiple osteotomies of the tibial diaphysis have been performed, with intramedullary fixation of the tibia with a Bailey-Dubow extensible
rod. C, Postoperative lateral view demonstrating correction of the anterior bow deformity. D, AP view of the tibia 2 years later
demonstrating extension of the rod. The patient sustained no further fractures of this tibia. E, Lateral radiograph demonstrating
maintenance of correction of the deformity.

A B

C D
FIGURE 42-38  Bailey-Dubow extensible rod used for intramedullary fixation of a long bone. A, The device consists of a hollow outer rod,
one end of which is threaded to receive either a like-diameter drill bit or a T-piece; a narrower inner rod with a fixed T-piece; and
inserters. B, The outer rod has a threaded end to accept the T-piece for fixation into the epiphysis. C, The inner rod slides into the outer
rod and has a fixed T-piece end. D, The outer rod may be inserted by using the removable drill bit, which threads into the end of the
rod. See Figure 42-39 for a description of the surgical details.
e624 SECTION VII  Other Orthopaedic Disorders

A B

C D E
FIGURE 42-39  Surgical technique of insertion of an extensible rod into the femur. A, After subperiosteal exposure of the femur from
metaphysis to metaphysis, an appropriate number of osteotomies are performed to allow straightening of the bone and fixation on the
intramedullary rod. B, The individual bone segments are reamed to accept the rod, and the largest diameter rod is selected based on the
reaming. An outer rod of appropriate length is selected by direct measurement of the fragments or by gently pulling on the limb and
measuring from epiphysis to epiphysis. The outer rod should be a few centimeters shorter than this measurement to permit postoperative
settling of the fragments and normal telescopic action of the rods. C, With the drill bit attached to the proximal end of the selected outer
rod, the rod is carefully driven proximally under direct vision or fluoroscopic control. The individual fragments are threaded on the rod as
it is advanced. When the rod exits the proximal end of the femur, it is advanced until it tents the skin. The skin is incised at this point, the
drill bit is removed, and the T-piece is inserted into the rod. The end of the rod should be crimped over the threaded portion with a pair
of pliers before the rod is reinserted to help prevent disengagement of the T-piece. D, The outer rod is pushed back to the level of the
proximal femur and into the bone. The T-piece is grasped with a small clamp and rotated 90 degrees under the cortex of the bone. This
helps prevent proximal migration of the outer rod and keeps the rod in the proximal portion of the femur. E, Under direct fluoroscopic
guidance, the inner rod is inserted through the intercondylar drill hole into the outer rod. The T-piece of the inner rod is pushed into the
distal femoral epiphysis and similarly rotated 90 degrees with a small clamp. The wounds are then closed and the patient immobilized in
a spica cast.

3. When the rod exits the proximal femur at the greater
trochanter or base of the femoral neck, the outer rod
and drill bit are driven further proximally until they
tent the skin.
4. A small incision is made over the rod, the drill bit is
removed, the T-piece is threaded in place, and the
outer rod is crimped over the threads with a pair of
pliers to help prevent the T-piece from disengaging
from the rod.
5. The outer rod with the T-piece engaged is pushed
back into the upper part of the femur, where it is
countersunk into the femur. The T-piece should be
grasped with a small pliers or a similar instrument and
rotated 90 degrees to help secure the outer rod within
the proximal epiphysis.
6. The obturator is then passed through the intercondy-
lar notch into the outer rod under direct vision or
fluoroscopic control. Its T-piece, which is solid on the
rod, is similarly countersunk under the distal femoral
epiphyseal cartilage and rotated 90 degrees.
In the tibia, the sequence of steps is similar. Because the
detachable T-piece of the outer rod is located intraarticu-
larly, there is no advantageous position for it, in contradis-
tinction to the femur. Gaining access to the distal tibial
epiphysis can be awkward, so it may be a little easier to
thread the outer rod in a proximal-to-distal direction,
remove the drill bit as it exits the distal tibia into the ankle
joint, replace it with the T-piece, and then push the rod
proximally until the T-piece can be countersunk in the distal
tibial epiphysis. However, authors have described both
proximal and distal insertion of the outer rod in the tibia.
These rods can also be used in the humerus, although the
need to correct deformity here is much less frequent than
in the femur and tibia. Furthermore, complications related
to intramedullary fixation are more common here than in
the lower extremity.108,189,255,322 When used in the humerus,
the outer rod is inserted through the upper part of the
humerus and exits at the greater tuberosity, and the inner
obturator rod is inserted through the lateral epicondyle.
These rods are not indicated for use in the radius or ulna.
Although most authors have described burying the
T-pieces in the epiphysis and rotating them 90 degrees to
help keep them in the epiphysis, the originators of the
device initially described leaving the T-pieces outside the
epiphysis.†b
We agree with most authors on this topic in that we think
that the T-pieces should be buried within the epiphyseal
cartilage. In 1989, Stockley and associates described a mod-
ified version of the original device, now commonly referred
to as the Sheffield rod.524 The device comes in a broader
array of lengths and diameters, the T-pieces are fixed to the
end of both rods, and the T-pieces are butterfly-shaped so
that they can be more easily grasped for rotation during
insertion into the epiphysis.524,570 Experience with the Shef-
field rod over a 10-year period has shown significant reduc-
tion in the frequency of fractures and improvement in
ambulatory status.371
†b
References 26, 27, 150, 178, 187, 255, 287, 311, 376, 456, 524, 570,
587.
CHAPTER 42  Metabolic and Endocrine Bone Diseases e625
The procedure may be performed with percutaneous rod
placement and small incisions for osteotomies.302 A modifi-
cation of the Sheffield rod with a removal of the T-piece
from the distal obturator end and placement of an interlock-
ing hole for anchorage has been reported to facilitate the
insertion and removal of the telescoping rod.98 The newest
telescoping device, the Fassier-Duval rod, was introduced
in 2003 in Canada. The main advantage of this new rod over
the older rods is the single proximal entry point and threaded
epiphyseal portion that allows screw-in fixation. It is
implanted through small incisions, with early reports
showing good stability and function of the implants.164 Mul-
tiple bone segments can be treated at the same sitting with
this procedure, just as with the Bailey-Dubow rod. Pub-
lished studies of experience with the Fassier-Duval rod,
however, have been limited. A minimum 1-year follow-up
study consisting of 15 patients with OI had a 13% reopera-
tion rate for proximal rod migration and a 40% complication
rate because of rod migration, limited telescoping, and
intraoperative joint intrusion.56 In 60 children treated with
Fassier-Duval rodding of the femur and bisphosphonates,
the functional outcomes (ambulation, gross motor function,
self-care, and mobility) were improved at 1-year follow-up.465
Clearly, insertion of telescoping rods is more complex
than the insertion of fixed devices such as Kirschner wires,
Steinmann pins, Williams rods, Rush rods, or other fixed-
length rods. Correspondingly, the intraoperative procedure
is much more complex and the opportunity for technical
problems and rod failure much greater. Complications spe-
cific to these rods include failure of the rod to elongate,
extrusion of the rod into soft tissues (especially the proxi-
mal part of the thigh), disengagement of the T-piece of the
Bailey-Dubow rod, and bending of the rod, with bone frac-
tures at the junction of the outer and inner rods (Fig.
42-40). Other complications of the procedures include
infection, nonunion, hypertrophic callus formation, and
growth arrest (rarely). These complications have been well
documented in a number of publications, in which the
reported complication rate varies from 7% to 100%.‡b
In addition, several authors have noted that an alarming
involution of cortical bone can occur around the rod, with
the original bone all but disappearing. Fortunately, no spe-
cific clinical problem has been identified with this radio-
graphic finding. On the other hand, when the rods do
perform as intended, most reports comparing telescoping
rods and fixed-length rods noted this advantage when the
patient had enough growth remaining to warrant the more
complex index procedure. Just what age corresponds to
enough growth remaining is uncertain, but use of these
rods should be strongly considered in children younger than
10 years.
Studies have shown the telescoping rod to be an effective
treatment, with an increased average length of time between
replacement operations, lower removal rate, and few
adverse effects.321,457 Reoperation was required 3.5 times
less often with the telescoping rod than with the solid
rod.321 Reported complication rates, however, range from
68% to 72%.321,423 Common complications with the
‡b
References 75, 79, 126, 149, 178, 187, 189, 255, 287, 311, 321, 335,
376, 423, 455, 456, 524, 570, 587.
e626 SECTION VII  Other Orthopaedic Disorders

A B C

FIGURE 42-40  Complications associated with the

Bailey-Dubow extensible rod. A, Failure of the rod
to elongate. This may occur if the inner rod
becomes jammed in the outer rod or if anchoring
of either T-piece in the epiphysis is inadequate.
B, Rod migration into soft tissue. This problem
also occurs after inadequate fixation of the T-piece
in the epiphysis. C, Disengagement of the outer
rod’s T-piece. This may be avoided by crimping
the end of the rod with a pair of pliers before the
T-piece is embedded in the epiphysis. D, Rod
extrusion from the metaphyseal cortex. This is
more common with fixed-length rods in growing
children. E, Resorption of the diaphysis around
the rod. Note also bending of the inner rod.
F, Fracture around a rod, with bending of the D E F
intramedullary rod.

Bailey-Dubow rod included proximal rod migration into the
gluteal region or the knee, loosening of the T-piece, non-
union, infection, failure of the rod to elongate as desired,
and bending of the obturator rod at the junction of the
two.321,423 In a comparison between Bailey-Dubow and Rush
rods, Porat and colleagues found the Rush rod to have fewer
complications (50% compared with 72%) and similar reop-
eration rates and time to revision surgery.423 They indicated
that the results of the Bailey-Dubow rods did not justify
the burden of the additional technical challenges that their
insertion presents to the surgeon. We recommend the pro-
cedure, but the operating surgeon must be alert to and warn
families of the relatively high complication rate.
Management of Spinal Deformity. Involvement of the
cervical spine, other than basilar impression (see later,
“Basilar Impression”), is a relatively uncommon feature
of osteogenesis imperfecta.353,407,467,588 Involvement of the
thoracolumbar spine is much more common. Fracture of
the vertebral body has been reported, as has spondylolisthe-
sis, but the most common deformity is scoliosis, with or
without kyphosis.§b
The incidence of scoliosis has been reported to be 39%
to 100% in this patient population.247 Its incidence can be
related to the severity of bone fragility, being more common
in patients with more severe fragility, and also to vertebral
body shape and strength. An inverse correlation with early
milestones has been noted, with spinal deformity being
more likely to develop in children who are late to achieve
sitting.152 Patients with biconcave vertebral bodies and
radiographic evidence of osteoporosis are at risk for the
development and progression of scoliosis and kyphosis152,247;
Ishikawa and associates247 found that the development of
§b
References 36, 45, 46, 116, 149, 166, 197, 217, 233, 247, 263, 306,
360, 434, 436, 445, 503, 586.

A B
FIGURE 42-41  Scoliosis in osteogenesis imperfecta. A, Preoperative radiograph showing the typical deformity in a severely affected
patient. B, Postoperative radiograph obtained after posterior fusion and instrumentation with the Luque technique. Minimal correction
was noted. An allograft was required to supplement the local bone graft.
six or more biconcave vertebrae before puberty was a strong
risk factor for the development of scoliosis of more than 50
degrees. These radiographic anomalies were more likely to
occur in patients with osteogenesis imperfecta congenita B.
The classifications of Falvo and associates161 and Shapiro495
have been found to be more useful in identifying risk for
the development of scoliosis. In general, however, scoliosis
is more prevalent in patients with Sillence type III or IV
disease.
Conservative management of scoliosis with an orthosis
has not generally prevented progression of the deformity
and may be detrimental.45,46,217,586 External pressure applied
to the rib cage in an effort to control the spinal deformity
may result in secondary compressive deformity of the rib
cage itself. Furthermore, the excessive sweating and heat
sensitivity often observed in Sillence type III patients
usually make it impossible for the patient to tolerate a spinal
orthosis. Consequently, use of a corrective spinal orthosis in
the management of spinal deformity in osteogenesis imper-
fecta is rarely indicated.
Spinal fusion has been recommended for the manage-
ment of severe (>40 or 50 degrees) progressive deformity
in patients with osteogenesis imperfecta.‖b
Many specific problems are faced by the treating surgeon
when performing spinal fusion in these patients. They are
typically more fragile and so are more prone to fractures
and other, anesthesia-related complications.514 Intraopera-
tive bleeding tends to be greater than average, presumably
related to bone fragility and the bleeding diathesis noted in
‖b
References 45, 46, 149, 197, 217, 360, 445, 586.
CHAPTER 42  Metabolic and Endocrine Bone Diseases e627
osteogenesis imperfecta patients in general. Spinal fragility
demands careful surgical exposure and makes instrumenta-
tion very difficult. The iliac crest will often serve as only a
meager source of autologous bone graft material. Finally, the
patient may not tolerate postoperative external immobiliza-
tion well for the same reasons that spinal orthoses for the
prevention of progression are not well tolerated. When
spinal stabilization is deemed warranted, the operating team
must therefore be prepared to handle the delicate patient
carefully, be prepared for blood transfusion, and have
allograft bone grafts or other bone graft substitutes available
to supplement whatever autologous bone can be obtained.
Initially, spinal fusion was performed with in situ tech-
niques or Harrington instrumentation and methylmethacry-
late augmentation of hook sites.¶b
However, stable posterior segmental fixation with Luque
sublaminar wires or tape appears to be ideally suited to the
instrumentation management of these difficult cases (Fig.
42-41).217 It is not clear that even successful instrumenta-
tion and fusion will halt progression of the spinal defor-
mity.46,217 Halo gravity traction has been used to gain
correction of the deformity, with instrumentation placed in
situ to maintain stability.252 A case report of all-pedicle
screw fixation technique along with the use of cyclic IV
bisphosphonate and halo gravity traction to treat a patient
with severe kyphoscoliosis was reported.465 OI patients are
not at high risk for pseudarthrosis after posterior fusion
alone, and anterior spinal growth is modest after fusion.
Thus, although successful anterior spinal fusion has been
¶b
References 45, 46, 116, 197, 217, 230, 233, 263, 306, 445, 586.
e628 SECTION VII  Other Orthopaedic Disorders
FIGURE 42-42  Hyperplastic callus formation in the femur after
intramedullary fixation.
described,217 anterior spinal fusion would seem to be
required rarely in these patients.
Complications
Hyperplastic Callus Formation
Hyperplastic callus formation in patients with osteogenesis
imperfecta is a rare but clinically disturbing event.#b
It is one of the characteristic features of OI type V.199
Prior to the recognition of OI type V, OI types III and IV
were thought to be associated with hyperplastic callus for-
mation. Although not all patients with OI type V develop
hyperplastic callus formation, it was found only in the
patients with OI type V in one institution.96 The clinical
scenario is an acute localized inflammation with a progres-
sive, often alarming enlargement of the involved limb over
a 1- to 3-week period. Hyperplastic callus has been reported
to occur as an apparently spontaneous event, after trauma
or fracture, and after limb surgery, particularly intramedul-
lary rodding.79,159,331,335,456 The condition appears to be most
common in the lower extremities of males. An enlarging
mass that is painful, warm to the touch, and tender on
palpation develops in the involved limb. The overlying skin
is tense and translucent, with dilation of the superficial
veins. Prolonged low-grade fever is commonly present. In
one case, bilateral femoral hyperplastic callus formation
after intramedullary rodding led to high-output cardiac
failure.79 Laboratory studies show an elevated erythrocyte
sedimentation rate and alkaline phosphatase level. Radio-
graphs show an enlarging, irregular callous mass enveloping
the involved bone (Fig. 42-42).
#b
References 18, 30, 32, 79, 159, 292, 331, 335, 452, 456, 527, 550.
The development of hyperplastic callus is cause for great
concern, not only in managing the affected extremity but
also because of diagnostic problems in distinguishing hyper-
plastic callus from osteogenic sarcoma. Banta and co-workers
reported 21 cases of hyperplastic callus.32 Three of the
patients underwent amputation for the presumptive
diagnosis of osteogenetic sarcoma, which subsequently
proved to be hyperplastic callus. To complicate the picture
further, osteogenic sarcoma has been reported in patients
with osteogenesis imperfecta, so this is not an idle
concern.266,289,443,469 If there is any doubt in an individual
case, a confirmatory biopsy must be performed. Because
one postoperative case was associated with initial evidence
of deep wound infection,79 cultures should be performed as
well. However, true deep wound infection has not generally
been an inciting or intercurrent condition with hyperplastic
callus formation.
Histologic examination of the callus shows fibromucoid,
cartilage-like tissue, or chondroid, a transitional form
between fibrous, mucoid, and cartilaginous tissue. In con-
trast, a normal callus consists of a network of woven bone
trabeculae lying in fairly dense connective tissue, without
mucoid or chondroid.32,134 The peripheral part of the mass
shows undifferentiated tissue, whereas the central part is
more differentiated, similar to normal callus.
Treatment is symptomatic. The affected extremity is
splinted for comfort. Benefit from palliative radiation
therapy has been reported.32,35,79,301,539 Great caution must
be exercised in pursuing this course of treatment, however,
because of the risk for development of sarcomatous changes
in the irradiated tissue. Diphosphonates have also been
tried, but without apparent success.79
Tumors
Osteogenic sarcoma has clearly occurred in patients with
osteogenesis imperfecta.256,266,289,443,469 The treating physi-
cian must not only be alert to this possibility but must
also consider this diagnosis actively when confronted
with a patient in whom hyperplastic callus has formed.
Osteogenic sarcoma has been reported in all surviving
Sillence types.
Other rare tumor or tumor-like conditions that have
been reported in patients with osteogenesis imperfecta
include aneurysmal bone cyst and unicameral bone cyst.249,459
Basilar Impression
Basilar impression is an unusual but well-recognized com-
plicating condition seen in patients with osteogenesis
imperfecta.*c
Although case reports and reviews of general populations
of patients with osteogenesis imperfecta would suggest that
this condition is relatively rare, Engelbert and associates
found radiographic evidence of basilar impression in 10 of
47 patients with osteogenesis imperfecta.149 Presumably as
a result of pathologic bone softening, the margins of the
foramen magnum invaginate into the posterior cranial fossa
in affected patients, thereby translocating the upper cervical
spine into this depression. This in turn produces direct
brainstem compression and probably alteration in cerebro-
spinal fluid flow dynamics, which can result in a wide variety
*cReferences 45, 177, 219, 245, 282, 333, 425, 468.

of symptoms, including headaches, facial spasm and numb-
ness, bulbar symptoms (difficulty swallowing and speaking
and respiratory depression), and long-tract signs or weak-
ness in the upper and lower extremities. Basilar impression
was the confirmed or suspected contributory cause of death
in six patients in a study of mortality in patients with osteo-
genesis imperfecta.333 The condition has been reported in
all Sillence types, except type II. Although basilar impres-
sion has been reported in a 3-year-old child,468 most reported
cases have occurred in adults.177,219,244,282,333,425 More severely
affected patients with associated dentinogenesis imperfecta
may be more susceptible to the development of basilar
impression, and those with ligamentous laxity may be less
susceptible, but exceptions to these generalities have been
reported.
Diagnosing basilar impression solely on the basis of plain
radiographic findings has always been difficult because of
difficulty in identifying radiographic landmarks at the
foramen magnum and variation in normal measurements in
this area. Computed tomography with three-dimensional
reconstruction and, even more importantly, MRI of the
upper cervical spine and brainstem greatly simplify the cli-
nician’s investigation. These studies should be performed
whenever the patient’s complaints or physical findings on
neurologic examination increase the treating physician’s sus-
picion of this diagnosis.
Relatively short-term relief of symptoms and neurologic
signs has been reported after posterior decompression
only.177,244,282,436,468 However, based on the pathophysiology
of the deformity, combined transoral anterior decompres-
sion and posterior fusion of the occiput to the lower cervical
or thoracic spine, as recommended by Harkey and associ-
ates, appears to be the most appropriate management of
this condition.219
Prognostication and Parental Counseling
Parents will need to know the likelihood of survival of the
affected infant and, when perinatal death is unlikely, what
to expect in the future with regard to ambulation and
deformity. They may also want genetic counseling and pre-
natal screening in future pregnancies. It is important to
emphasize to the parents that surviving infants, even if
significantly affected by bone fragility, typically have normal
intelligence, determination, and excellent social skills that
allow them to compensate admirably for their skeletal
disability.
Survival
The most important indicators of survival of an affected
infant are the location and severity of the fractures and the
radiographic appearance of the skeleton (Sillence type II
and Shapiro congenita A).495,503 Patients who are mildly
affected (particularly Sillence type IA patients) often have
a normal life span.333,406 Paterson and colleagues406 noted
that Sillence types IB and IV patients had only modestly
reduced life spans. More severely affected patients may
have their life span shortened because of a susceptibility to
cardiac or pulmonary insufficiency related to the chest wall
deformity or kyphoscoliosis.333 In their review Paterson and
colleagues noted that of 26 patients with Sillence type III
disease who had died, 19 did so before 10 years of age, so
CHAPTER 42  Metabolic and Endocrine Bone Diseases e629
those who survived beyond that age seemed to have a better
outlook.406 More severely affected patients are susceptible
to the development of basilar impression and subsequent
death. Finally, because of the relative fragility of these
patients, deaths have occurred from the consequences of
polytrauma after accidents that might otherwise be consid-
ered relatively trivial.333
Ambulation
The future ambulatory ability of an affected infant is prob-
ably best predicted by Shapiro’s classification into the cat-
egories of congenita A and B and tarda A and B.495 Although
patients with osteogenesis imperfecta congenita A are
unlikely to survive, those with congenita B are not only
likely to survive, but a third, in Shapiro’s experience, also
achieve ambulation. In this study of patients who sustained
fractures after birth but before walking (tarda A),495 67%
ultimately were able to walk, whereas all patients whose
initial fracture occurred after walking age remained ambula-
tory. Prognosis using this classification has been substanti-
ated by Daly and associates, who found that 76% of patients
who were able to sit independently by 10 months of age
achieved ambulation.127 They also found that the Sillence
classification was predictive of ambulation. Specifically, in
their patient population, almost all Sillence type I patients
were independent ambulators, all type III patients were
wheelchair-dependent, and three of seven type IV patients
were able to walk. Engelbert and co-workers also found that
children who could achieve independent sitting or standing,
or both, by the age of 12 months were likely to be able
to walk.151
Antenatal Diagnosis
According to Ablin, OI is one of the most common skeletal
dysplasias to be diagnosed by fetal ultrasonographic find-
ings.2 Most cases are Sillence type II and, as such, represent
an unexpected finding because of the usual absence of a
positive family history.
The ultrasonographic features of type II, usually identifi-
able by the fetal age of 16 weeks, include long bone defor-
mity (implying fracture), severely reduced femoral length,
and decreased echogenicity of the skull, with correspond-
ingly better than usual visualization of the brain.2,74,541 Rib
fractures or chest wall deformity may also be detectable.
The prenatal findings of a fetus affected by Sillence type I,
III, or IV disease will vary with the severity of the disease
expression and may be normal in mildly affected type I
patients.
Couples with a history of a fetus affected by type II OI
have a 2% to 7% risk of having another similarly affected
fetus because of mosaicism in one parent. In such cases,
antenatal diagnosis can be made between 13 and 14 weeks
of gestation by DNA analysis of chorionic villus cells
obtained by ultrasound-guided chorionic villus sampling.
References
1. Aarabi M, Rauch F, Hamdy RC, et al: High prevalence of coxa
vara in patients with severe osteogenesis imperfecta, J Pediatr
Orthop 26:24, 2006.
2. Ablin DS: Osteogenesis imperfecta: a review, Can Assoc Radiol
J 49:110, 1998.
e630 SECTION VII  Other Orthopaedic Disorders
3. Aeschlimann MI, Grunt J, Crigler JF Jr: Effects of sodium
fluoride on the clinical course and metabolic balance of an infant
with osteogenesis imperfecta congenita, Metabolism 15:905,
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e642 SECTION VII  Other Orthopaedic Disorders

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 C H A P T E R 4 3 
Hematologic
Disorders
Chapter Outline
Hemophilia
Sickle Cell Disease
Hemophilia
Hemophilia, a genetically determined disorder, is character-
ized by abnormal blood coagulation as a result of a func-
tional deficiency of factor VIII or IX. Since biblical times,
the crippling deformities of the musculoskeletal system and
death resulting from uncontrolled hemorrhage have been
well depicted in the pages of history.
The term hemophilia, coined by Hopff in 1828, means
“blood loving.” Wright is credited with being the first to
demonstrate the prolonged clotting time in the disorder.166
Patek and Taylor isolated the deficient substance, terming
it antihemophilic globulin.114
Modern management of hemophilia has reduced the
morbidity of the disease remarkably. The development of
human immunodeficiency virus (HIV) infection in those
receiving blood products has been a major setback. Better
treatment of HIV infection and safer methods of blood
product screening and factor preparation have reduced the
effect of this unfortunate disease complex.81 Currently,
factors VIII and IX are produced with recombinant DNA
methods, which avoids the hazards of bloodborne disease.
During the HIV era, the mortality rate of patients with
hemophilia was determined to be two to three times higher
than that of the general male population, largely because of
the consequences of viral infections.119 Interestingly, studies
have continued to show that the mortality rate of patients
with hemophilia who were not infected with HIV continue
to exceed the mortality rate of the general population by a
factor of 2.6.29,119
Incidence
The incidence of hemophilia is estimated to be 1/10,000
male births in the United States and 0.8/10,000 male births
in England.6,31 A 1998 study estimated the national preva-
lence at 13,320 cases of hemophilia A and 3640 cases of
hemophilia B, with a U.S. birth prevalence of both A and
B of 1/5032 live male births.143
Classification and Inheritance
Hemophilia may be classified as hemophilia A, hemophilia
B, or von Willebrand disease. Hemophilia A and B are
further classified as mild, moderate or severe, based on the
Anthony I. Riccio
functional plasma factor levels (Table 43-1). Patients with
severe hemophilia may have spontaneous hemarthroses,
intramuscular bleeding, and visceral bleeding, even in the
absence of trauma.
Hemophilia A
Hemophilia A, or classic hemophilia, results from a congeni-
tal deficiency in factor VIII (also known as antihemophilic
factor or antihemophilic globulin). This type accounts for
about 80% of cases and is caused by a gene carried on the
X chromosome. Studies have identified at least 58 different
mutations that result in a deficiency in normally functioning
factor VIII protein.86
Hemophilia A occurs in boys and is transmitted by
asymptomatic female carriers. A girl could be affected if
her mother were a carrier and her father a hemophiliac;
however, this is very rare.
Hemophilia B
Hemophilia B, or Christmas disease, is caused by a defi-
ciency in factor IX (plasma thromboplastin component, or
Christmas factor). Its clinical manifestations are similar to
those of classic hemophilia. The hereditary transmission
also is by an X-linked recessive gene. As with hemophilia A,
many mutations of the gene responsible for factor IX pro-
duction have been identified.110,135 Hemophilia B accounts
for approximately 15% of cases of hemophilia.
von Willebrand Disease
In this bleeding disorder, factor VIII deficiency and platelet
functional abnormality are present. The disorder is inher-
ited as an autosomal dominant trait and occurs in both
genders. The bleeding disorder is relatively mild.
Factor VIII, a glycoprotein with a molecular weight of
2000 kDa, is composed of subunits, each with a molecular
weight of approximately 200 kDa. All these subunits
contain carbohydrates and are held together by disulfide
bonds.64,122 The precoagulant, sex-linked, hemophilic defect
is located on the lighter protein portion of the glycoprotein,
whereas the autosomal dominant von Willebrand defect
is related to the heavier carbohydrate moiety of the
molecule.102
Clinical Features
Hemorrhage
Uncontrolled hemorrhage and repeated episodes of bleed-
ing are the hallmarks of hemophilia. The severity of the
disease varies from patient to patient but is constant in any
one patient. Clinical manifestations of hemophilia A and B
are similar and depend on the blood levels of factor VIII or
IX. The level of hemostasis is normal when the blood level
e643
e644 SECTION VII  Other Orthopaedic Disorders
Table 43-1  Classification of Severity of Hemophilia
A and B
Severity Factor Level (Percentage of Normal)
Mild >50
Moderate 25-50
Moderately severe   1-24
Severe <1
of either factor is at least 50% of normal. When the func-
tional plasma level of the factor is 25% to 50% of normal,
the hemophilia is mild, and excessive bleeding occurs only
after major trauma or during surgery. When the plasma level
of the factor is 5% to 25% of normal, the hemophilia is
moderate; severe, uncontrolled bleeding occurs after minor
injury or during an operative procedure. When the plasma
level of the factor is 1% to 5% of normal, the hemophilia is
moderately severe, with major hemorrhage occurring after
minor injury or unrecognized mild trauma. When the plasma
levels of factor VIII or IX are below 1% of normal, the
hemophilia is considered very severe; clinically there are
repeated spontaneous hemorrhages into joints and bleeding
into deep soft tissues.
Abnormal bleeding may occur in any area of the body.
Joints are the most frequent sites of repeated hemorrhage,
followed by muscles and soft tissues. In the patient with
severe hemophilia, the abnormal bleeding tendency may
manifest in the neonatal period or early infancy. Ordinarily
the ecchymosis and soft tissue bleeding are minor, resorb
relatively readily, and are not detected by the parents.
When the infant begins to crawl and starts bumping into
objects, or is standing and falling, abnormal bleeding into
joints and soft tissues is noted by the parents. At this stage
the infant is usually seen by the pediatrician. It is crucial to
have a high index of suspicion for hemophilia to prevent
serious consequences or invasive treatment, such as aspira-
tion of the joints.
Hemophilic Arthropathy
Intraarticular hemorrhage is a central clinical hallmark of
hemophilia. A single hemarthrosis may precipitate low-
grade synovitis, which predisposes the involved joint to
recurrent hemarthrosis and a cycle of chronic synovitis,
inflammatory arthritis, and progressive arthropathy.91
Site of Involvement.  The weight-bearing joints are the
most common sites of hemophilic arthropathy, with the
frequency of involvement being, in decreasing order,
the knee, elbow, shoulder, ankle, wrist, and hip.17 The
vertebral column is rarely involved. Any joint, however,
may be the site of pathologic change.
Pathophysiology.  The pathophysiologic process was ini-
tially described by Konig in the late nineteenth century.73
An initial stage of synovial reaction to the bleeding into the
joint occurs first, followed by a later stage of cartilage degen-
eration and joint destruction. After injury, the synovial
vessels rupture and the blood accumulates in the joint.
Bleeding continues until the intraarticular hydrostatic
pressure exceeds arterial and capillary pressure in the
synovium, resulting in tamponade of the synovial vessels and
causing ischemia of the synovium and subchondral bone.
With repeated hemorrhage, hyperplasia and fibrosis of
the synovium occur, and a vicious circle of bleeding-
synovitis-bleeding ensues.126 Pannus formation by the
proliferating synovial tissue erodes the hyaline cartilage
peripherally, and compression of its opposing cartilaginous
surfaces results in degeneration of articular cartilage cen-
trally. Articular cartilage is also degraded by the action of
proteolytic enzymes—lysosomal proteases, acid phospha-
tase, and cathepsin D.126 Data from animal studies have
suggested that articular cartilage may be more susceptible
to blood-induced damage at younger rather than at older
ages.131 Prostaglandin levels are also elevated in hemophilic
arthropathy. An inflammatory process invades and destroys
cartilage. Loss of joint motion and contractures from the
capsular synovial fibrosis follow. Local ischemia causes for-
mation of subchondral bone cysts.
Repeated hemarthrosis causes marked dilation of the
capsular and epiphyseal vessels. The resultant hyperemia
and increased circulation to the part result in enlargement
of the epiphysis and increased length of the limb. Stimula-
tion of growth may be asymmetric, resulting in valgus or
varus deformity. Alternatively, shortening of the limb may
be produced by early closure of the physis. Osteoporosis
and muscle atrophy are common.125
Clinical Findings.  Clinical findings depend on the severity
of hemorrhage and whether the hemarthrosis is acute, sub-
acute, or chronic. In acute hemarthrosis, pain and swelling
with distention of the joint capsule are the principal findings.
A history of injury may not be elicited. With cessation of
bleeding, the intensity of the pain decreases. The joint will
assume the position of minimal discomfort, which is also
the position of minimal intraarticular pressure. The hip joint,
for example, is held in flexion, abduction, and external rota-
tion. Extension, wide abduction, and medial rotation of the
hip are limited and painful because they increase intraar-
ticular hydrostatic pressure. The knee joint is held in flexion,
with range of motion markedly restricted by protective
spasm, pain, and the hemarthrosis. Local tenderness and
increased heat are present. The overlying skin becomes tense
and shiny. The intense pain of acute hemarthrosis subsides
rapidly after the administration of factor VIII or IX.
Subacute hemarthrosis develops after several episodes of
bleeding into the joint. Pain is minimal. The synovium is
thickened and boggy. Joint motion is moderately restricted.
Subacute hemarthrosis does not respond rapidly to the
administration of clotting factor.
Chronic hemarthrosis develops after 6 months of involve-
ment. Progressive destruction of the joint takes place, with
the end stage being a fibrotic, stiff, and totally destroyed
joint.6
Differential Diagnosis.  A difficult diagnostic challenge is
the child with hemophilia and a superimposed joint infec-
tion. The diagnosis is often delayed because the symptoms
are similar to those of hemarthrosis. In one series, most but
not all children with infection were found to have elevated
white blood cell counts. Associated risk factors included
infected angioaccess catheters, pneumonia, and generalized
 CHAPTER 43  Hematologic Disorders e645

sepsis. Affected joints should be treated with antibiotics and
repeated aspiration or arthrotomy.44,124
Radiographic Findings.  Radiographic findings associated
with hemarthrosis depend on the stage of the disease,
patient age at disease onset, and the joint involved.69 Mag-
netic resonance imaging (MRI) is considered the most accu-
rate imaging modality for assessing hemophilic arthropathy
and may significantly affect patient management. Initial
radiographs of an affected joint disclose soft tissue swelling
from distention of the joint capsule. With repeated hemor-
rhage and resultant chronic synovitis there may be joint
effusion, osseous erosion, osteoporosis, enlargement of the
epiphysis, subchondral cysts, narrowing of the articular car-
tilage space, formation of peripheral osteophytes, and other
secondary degenerative changes (Figs. 43-1 and 43-2). The
final phase of hemophilic arthropathy is fibrous ankylosis
(Fig. 43-3).

A B
FIGURE 43-1  A, Hemophilic arthropathy of the left knee. B, The right knee is provided for comparison. Radiographs show the chronic
synovitis and enlargement of the distal femoral epiphysis.

A B
FIGURE 43-2  Two examples of hemophilic arthropathy of the shoulder. A, Note the erosive changes of the humeral neck and glenoid.
B, Note enlargement of the humeral head.
e646 SECTION VII  Other Orthopaedic Disorders
FIGURE 43-3  Fibrous ankylosis of the hip as a result of hemophilic
arthropathy.
On the basis of radiographic findings and degree of car-
tilage destruction, Arnold and Hilgartner classified hemo-
philic arthropathy into five stages (Box 43-1).6 A modified
version of the Arnold-Hilgartner system has four grades
instead of five (Box 43-2). This modified classification
eliminates the original stage II (epiphyseal enlargement and
juxtaarticular osteoporosis), which is rarely discrete and has
no implications for treatment.91 Osteoporosis frequently
accompanies chronic synovitis in patients with stage I
arthropathy, and erosions are often present, with epiphyseal
enlargement.
In a study comparing the ability to detect synovial hyper-
trophy using plain radiography and MRI, Arnold-Hilgartner
staging alone was proven to be predictive of synovial hyper-
trophy in patients with symptomatic knee and ankle joints,
with a sensitivity and specificity of 100% for the detection
of synovial hypertrophy within the knee.108
Soft Tissue Bleeding
After a direct injury, a large hematoma may accumulate in
the subcutaneous tissues. The blood usually is absorbed
spontaneously; ulceration occasionally occurs, commonly on
the forehead, the olecranon process, or the prepatellar area.
This type of superficial hematoma usually remains fluid and
fluctuant for a long time. Superficial soft tissue hemorrhage
in the form of ecchymosis is common, especially in a patient
with severe hemophilia; it is not of clinical significance.
Intramuscular and Intermuscular Hemorrhage
In the lower limb the most common site of bleeding is the
quadriceps (44%), followed by the triceps surae (35%),
Box 43-1  Radiographic Staging
of Hemophilic Arthropathy
STAGE I
Soft tissue swelling
No skeletal abnormality
STAGE II
Overgrowth and osteoporosis of epiphysis
Joint integrity maintained
No bone cysts
No narrowing of articular cartilage space
STAGE III
Mild to moderate joint narrowing
Subchondral cysts
Patellar squaring
Widening of intercondylar notch of knee and trochlear notch
of elbow
Articular cartilage preserved, indicating that disease is still
reversible
STAGE IV
Severe narrowing of joint space, with cartilage destruction
Other osseous changes, subchondral cysts, patellar squaring,
widening of intercondylar or trochlear notch, very
pronounced
STAGE V
Total loss of joint space with fibrous ankylosis
Marked incongruity of the articular structures, with severe
irregular hypertrophy of the epiphysis
Adapted from Arnold W, Hilgartner M: Hemophilic arthropathy:
current concepts of pathogenesis and management, J Bone Joint Surg
Am 59:287, 1977.
Box 43-2  Modified Arnold-Hilgartner
Arthroplasty Classification
GRADE I
Soft tissue fullness indicating effusion and synovial thickening
Juxtaarticular osteopenia often present
GRADE II
Widened epiphysis, surface irregularity, and small erosions
Normal cartilage interval or joint space
GRADE III
Narrowing of cartilage interval with extensive surface erosions
Juxtaarticular bony cysts may be present
GRADE IV
Same findings as stage III, but with complete loss of cartilage
interval and marked surface irregularity
Reactive sclerosis, squaring of the margin of the femoral
condyles, and subluxation often present
anterior compartment (7%), adductors of the thigh (7%),
hamstrings (6%), and sartorius (1%).7 In the upper limb the
most common site of bleeding is the deltoid (24%), fol-
lowed by the wrist and finger flexors in the forearm (23.5%),
brachioradialis (19.5%), biceps (14%), wrist and finger
extensors in the forearm (11%), and triceps (8%).121 The
presenting complaint is pain on movement or at rest.
Hemorrhage in the quadriceps muscle may occasionally
be painless and manifest only as stiffness or weakness of the
knee. Physical findings consist of local tenderness and

FIGURE 43-4  Volkmann ischemic contracture of the forearm after
fracture of both bones in a hemophilic boy.
FIGURE 43-5  Ultrasonographic findings in soft tissue bleeding in
the iliopsoas muscle. 1, Normal iliopsoas; 2, fascial plane; 3, iliac
bone; 4, bleeding in the iliopsoas.
swelling, with limitation of motion of the adjacent joints.
Bleeding in the deltoid muscle restricts shoulder motion,
especially abduction and, to some extent, rotation, flexion,
and extension of the shoulder. Bleeding in the forearm
flexors restricts motion of the fingers, wrist, or elbow, indi-
vidually or in combination.
Hemorrhage into the iliopsoas muscle or retroperito-
neum may mimic a variety of surgical or medical emergen-
cies, such as appendicitis or renal colic.
Ischemia and fibrosis of muscles, with subsequent
myostatic contracture, result from bleeding within muscles
or among muscles contained in a firm fascial compart-
ment.78,93,94,105 Hemorrhage within the calf muscles pro-
duces fixed equinus deformity. Bleeding in the volar surface
of the forearm may produce a Volkmann ischemic contrac-
ture, with flexion deformity of the digits and wrists
(Fig. 43-4).
Diagnostic Ultrasonography
Diagnostic ultrasonography is routinely performed in hemo-
philic patients in whom hemorrhage into joints or soft
tissues is suspected. It is noninvasive and can be performed
at the bedside, with minimal disturbance of the patient.*
The diagnostic value of ultrasonography is in the identi-
fication of bleeding into the hip, shoulder, and deep soft
tissues, such as the iliopsoas or retroperitoneum (Fig. 43-5).
Effusions into these deep anatomic sites are easily detected
on ultrasonography. Hemorrhage into superficial joints such
as the knee, elbow, ankle, or wrist is determined on physical
examination.
The echo pattern varies with the duration and anatomic
site of the hemorrhage. In the soft tissues a hematoma
*References 2, 12, 71, 76, 103, 113, 138, 159, 164, 165.
CHAPTER 43  Hematologic Disorders e647
initially displays increased echogenicity compared with sur-
rounding soft tissues; within 3 to 4 days, relatively echo-free
areas develop in the bleeding site. Ordinarily, in 10 days,
the established hematoma is relatively echo-free. A soft
tissue hematoma may be of uniform texture, separating
muscle planes, or it may interdigitate with muscle fibers,
producing a mottled appearance, with poorly defined
margins. On follow-up ultrasonographic examination, the
intramuscular hematoma may have resolved spontaneously
or may have progressively liquefied, with decreased internal
echoes and the development of well-defined borders.
A sudden increase in echogenicity indicates a fresh
hemorrhage.
The echo pattern of bleeding into joints shows a mixture
of echo-free fluid within the joint and a variable amount of
echogenic material floating free. In its initial stage hemar-
throsis is sometimes uniformly echogenic, in contrast to the
echo-free appearance of joint effusions from other causes,
such as toxic synovitis or septic arthritis.
Measurements of synovial thickness and synovial vascu-
larity using ultrasonography in conjunction with power
Doppler sonography have been shown to correlate highly
with the determination of these parameters using MRI.2
The use of Doppler sonography with ultrasound may there-
fore be a less costly means for determining the extent of
synovial involvement; this may prove useful in patients
under consideration for selective prophylaxis prior to sus-
taining a frank hemarthrosis.
Nerve Palsy
Neurapraxia in hemophilia is primarily caused by compres-
sion of a nerve from the hematoma. The femoral nerve is
usually involved because it is in a closed rigid compartment
limited by the iliacus fascia. The psoas sheath is easily dis-
tensible. The nerve next most frequently affected is the
median nerve. The ulnar, radial, sciatic, peroneal, and lateral
femoral cutaneous nerves also may be involved.26
A history of injury, such as twisting of the limb or strenu-
ous use, may be obtained in some cases. Pain is the present-
ing complaint and is soon followed by weakness of the
affected muscle groups.
In femoral nerve palsy, the hip is held in moderate flexion
and some lateral rotation. Extension and medial rotation of
the hip are limited and painful. On palpation a tender mass
in the iliac fossa extending to the iliac crest and groin may
be present. There will be anesthesia or hypesthesia in the
areas of the cutaneous distribution of the femoral nerve.
Quadriceps paralysis is often present, in varying degrees.
Ultrasonography and computed tomography (CT) demon-
strate the iliacus hematoma. With adequate factor replace-
ment, the natural course is one of gradual and steady
recovery, usually within 12 months.†
Hemophilic Pseudotumor
The term hemophilic pseudotumor refers to a progressive
cystic swelling involving the musculoskeletal system. It is
caused by uncontrolled hemorrhage within a confined space.
The hematoma grows and causes pressure necrosis and
erosion of surrounding tissues. The subjacent bone fre-
quently is involved.6
†
References 1, 4, 9, 13, 27, 33, 39, 53, 58, 60, 92, 132, 136, 144, 152.
e648 SECTION VII  Other Orthopaedic Disorders
First described in 1918, this entity occurs only in severely
affected hemophiliacs who have a functional clotting factor
level below 1% of normal. In these patients, with severe
hemophilia, the estimated incidence is 1% to 2%.
These cysts develop in one of three ways.37 The simple
cyst occurs within the fascial envelope of a muscle (or
muscles) and is confined by the tendinous attachments. No
bony changes are seen on radiographs. The cyst usually
remains localized under the muscle fascia, although it may
extend between muscle and fascia to point internally or
through the skin.
The second type of cyst occurs in a muscle with wide
and firm fibrous periosteal attachments; it may eventually
cause cortical thinning because of compressive interference
with the periosteal and outer cortical blood supplies.
In the third type, the pseudotumor originates as a sub-
periosteal hemorrhage and progressively strips the perios-
teum from the cortex until it is limited by the aponeurotic
or tendinous attachments. The overlying muscle is raised or
destroyed.150 Most hemophilic pseudotumors are caused by
subperiosteal hemorrhage. Occasionally one may arise from
intraosseous hemorrhage.63 In the past, intramedullary
bleeding was thought to be a cause of hemophilic pseudo-
tumor.1,58,63 It was proposed that uncontrolled intraosseous
hemorrhage increases the intramarrow pressure and causes
necrosis of the marrow and inner cortex of the bone. With
progressive bleeding and increasing pressure, the cortex
would perforate, causing elevation of the periosteum and
bone necrosis. Pathologic examination of large hemophilic
pseudotumors, however, has failed to demonstrate bone
necrosis or resorption of the inner part of the cortex.
The most common location of pseudotumors is in the
thigh (50% of cases), followed by the abdomen, pelvis,
and tibia (Fig. 43-6, A).59 Pseudotumor may also occur
in the hand (see Fig. 42-6, B).9 Pseudotumor involving
the calcaneus may cause marked erosion of the calcaneal
tuberosity.21,74
A B
FIGURE 43-6  Hemophilic pseudotumors of the tibia (A) and hand (B).
A bone involved by pseudotumor may sustain pathologic
fracture. Before adequate factor replacement was available,
pseudotumors caused death in most patients, and involved
limbs were amputated. Fernandez de Valderrama and col-
leagues have observed that the location of these tumors is
related to the powerful muscle groups of the quadriceps
femoris, triceps surae, gluteus maximus, and iliopsoas
muscles, which have firm attachments between their fibers
and the periosteum but not to any great extent with the
bone itself.37 These muscles also have profuse vascular con-
nections with the underlying periosteum and bone. Hemor-
rhage from these injured vessels easily detaches and elevates
the periosteum.37
Hemophilic pseudotumor is essentially an expanding
hematoma. CT scans have demonstrated that the lesion is
of fluid consistency and can show its true extent, bony
destruction, and extraosseous abnormality.115 MRI is also of
great value in delineating the nature and extent of the
pseudotumor. It is imperative that a hemophilic tumor not
be mistaken for a malignant or expanding benign bone
tumor. It should not be aspirated, nor should a biopsy speci-
men be taken for diagnosis, particularly without appropriate
preoperative correction of functional factor deficiency.
Fractures
Fractures in hemophilia may result from trauma or may
occur pathologically after a trivial injury. They are most
common in the lower limb, especially in patients with stiff
knees, who sustain supracondylar fracture of the femur.
Fracture hematomas may be large, especially after femoral
fractures. Uncontrolled bleeding into a closed fascial com-
partment may lead to a Volkmann ischemic contracture (see
Fig. 43-5).
Dislocations
Intraarticular bleeding in the hip stretches the joint capsule
and causes subluxation and eventual dislocation of the hip.

Bleeding in the hip joint is a rare but serious problem in
hemophilia. Increased intraarticular pressure, in addition to
stretching the joint capsule, causes avascular necrosis (AVN)
of the femoral head, with eventual joint space narrowing,
subchondral irregularity and cyst formation, collapse of the
femoral head, osteoarthrosis, and arthrokatadysis.137,150
Myositis Ossificans
Ectopic ossification in hemophilia, first described by
Hutcheson, develops as a result of intermuscular or intra-
muscular bleeding.61 Heterotopic bone formation around
the hip joint restricts motion of the hip.80 In the past it was
thought to be a rare complication in hemophilia, but has
been reported to occur in 15% of patients.156
Bone Mineral Density
Children with severe hemophilia and hemophilic arthropa-
thy are at risk for reduced bone mineral density related to
limitations in weight-bearing exercise and frequent hepatitis
C infection.8 Although more recent research has suggested
that only a small number children with moderate or severe
hemophilia may have abnormal bone mineral density,
reduced bone density in childhood remains a risk factor for
osteoporosis in later life.22 Because osteoporosis may there-
fore complicate the future treatment of patients with
hemophilia, screening for reduced bone density of young
patients with severe hemophilia is recommended until
further studies have explored this issue.
Treatment
The care of the hemophiliac with musculoskeletal disorders
requires a multidisciplinary approach by a team consisting
of a hematologist, orthopaedic surgeon, physical therapist,
nurse clinician, medical psychologist, social worker, and
geneticist. There should be immediate access to a laboratory
capable of performing accurate factor VIII and IX assays
and detecting factor antibodies. Factor material should be
readily available for replacement therapy. The creation of
multidisciplinary hemophilia clinics in children’s hospitals
has simplified the care of hemophilic children.
Gene Therapy
A number of trials of gene therapy in animals with geneti-
cally produced factor deficiencies have been performed,
with some success. Most studies have addressed the use of
adenoviral vectors to carry the corrected gene into the
recipient, with the goal of obtaining long-term therapeutic
levels of factor VIII or IX without stimulating an immune
response against the transgene product or the vector itself.47
Host immunity to the adenoviral vector has thus far pre-
vented permanent correction of the factor deficiency,
although the development of viral vectors devoid of viral
genes has allowed reduced immunogenicity and even sus-
tained expression of factors VIII and IX, with complete
cure of the bleeding disorder in some investigational
settings.14,35,66,153,161
Specific gene therapy methodologies that have been
investigated include the modification of hematopoietic stem
cells to express factor VIII transgene in the megakaryocytic
lineage, allowing platelets to store and deliver factor VIII
to the site of vascular injury.130 Permanent therapeutic
CHAPTER 43  Hematologic Disorders e649
correction of mutations in the factor IX gene has been
reported in a mouse model of hemophilia B, without the
development of host immune reactions.158 Despite these
intriguing developments, gene therapy remains an investi-
gational method, with many obstacles to be overcome
before it can be reliably used as a treatment for
hemophilia.89,158
Medical Management
The objective of medical management is control of bleeding
by hemostasis, achieved by intravenous (IV) administration
of the appropriate coagulation factors. There are two major
approaches. The first is treatment on demand—that is, at
the onset of any bleeding episode. The second approach
is prophylactic replacement in patients with recurrent
hemarthroses.
Treatment on Demand
The most common approach to the treatment of recurrent
hemarthrosis is treatment on demand. It has been suggested
that factor levels of 30 to 50 IU/dL are optimal in control-
ling an acute hemorrhage. To achieve these levels in a patient
with severe hemophilia (plasma levels < 1% of normal), 15
to 25 IU/kg of factor VIII and 20 to 50 IU/kg/dL of factor
IX are required. Repeated treatments may be required daily
for 2 to 3 days to control the hemarthrosis. Aspirin products
and nonsteroidal antiinflammatory drugs must be avoided.123
An investigation into the cost implications of repeated
arthrosis in patients with hemophilia A has found that the
cost of treating a child with on-demand factor VIII more
than doubled within 1 year after the development of a
target joint, defined as three bleeds into a single joint within
a 3-month period.68 This study, performed in boys with an
average age of 4.5 years, supports beginning primary pro-
phylactic therapy at younger ages.
Prophylactic Treatment
Several studies have shown that ongoing prophylactic treat-
ment reduces the incidence of hemarthrosis.50 One study
has found that starting treatment at 3 years of age results
in a better outcome than starting at 5 years, but patients
with prior repeated hemarthrosis had continued arthropa-
thy despite prophylactic factor replacement.40 Another
study noted reduced bleeding frequency in 41 of 47 patients
but an increase in the cost of clotting factors compared with
treatment on demand, although a similar investigation iden-
tified fewer joint bleeds, less arthropathy, and lower treat-
ment costs in 49 patients receiving factor prophylactically
versus on demand.38,104
The efficacy of prophylactic treatment for the preven-
tion of hemarthrosis and arthropathy in children has been
highlighted by two prospective, multicenter, randomized
trials.51,96 The recent ESPRIT study in Europe has demon-
strated that when compared with patients randomized to
demand treatment, those receiving prophylactic factor
replacement have significantly fewer hemarthroses and less
signs of arthropathy on plain radiography. Patients who initi-
ated prophylaxis prior to 36 months of age had fewer joint
bleeds per month and no radiographic signs of arthropathy.51
The Joint Outcomes Study in the United States random-
ized 65 boys younger than 30 months with hemophilia A to
receive prophylactic or demand recombinant factor VIII
e650 SECTION VII  Other Orthopaedic Disorders
replacement therapy. The mean annual number of joint
bleeds was significantly higher in the demand treatment
group. Furthermore, at 6 years of age, 93% of boys in
the prophylaxis group had normal MRI studies of the
knees, ankles and elbows versus only 55% in the demand
group.96
The dosage required to replace a factor deficiency
depends on the patient’s weight and plasma volume. The
hematologist makes the calculation and is in charge of
administering the factor. The orthopaedic surgeon, however,
should be aware that 20 to 30 minutes after administration
of the antihemophilic factor, the plasma level will rise. The
biologic half-life of factor VIII is 6 to 12 hours, whereas
that of factor IX is 8 to 18 hours. In the management of
bleeding into joint, muscles, and soft tissue, the dose of
factor VIII or IX is calculated to raise the plasma level to
30% of normal. In severe hemarthrosis it may be desirable
to raise the plasma level to 40% of normal.
Inhibitors of factors VIII and IX develop as a result of
the human immunologic response.162 Risk factors for inhibi-
tor development include a family history of inhibitory anti-
bodies, high risk–factor VIII gene mutations, and intensive
initial factor treatment.151 Also, black patients are twice as
likely to develop inhibitors to factor VIII as white patients.157
A low titer of inhibitors may be circumvented by high-
dosage factor VIII infusion. Other methods to overcome
this life-threatening problem include the administration of
prednisone and cyclophosphamide, the use of high concen-
trations of prothrombin-activated material, and the use of
plasmapheresis. Immune tolerance therapy can eradicate
inhibitors but has not been uniformly successful. Prelimi-
nary data have suggested that prophylaxis with activated
prothrombin complex concentrates safely reduces the inci-
dence of joint bleeding during immune tolerance therapy
and in patients in whom immune tolerance induction fails.82
Controlled clinical trials are needed, however, to identify
whether prophylaxis can prevent joint bleeding and damage
and improve the quality of life in patients with factor
inhibitors.
Early Treatment of Bleeding into Muscles
and Soft Tissues
Early treatment of bleeding into muscles and soft tissues by
the self-administration of factor VIII or IX by the hemo-
philiac or parent at home has been found to be effective.
The dose of factor is calculated to raise the level to 30% to
40% of normal. The part is splinted in a comfortable neutral
position in foam pillows or soft appliances. If the hemor-
rhage is in the lower limb, weight bearing is restricted by
crutches or eliminated by confinement to the bed or a
wheelchair. As soon as the acute symptoms of pain and
muscle spasm have subsided, the affected limb is gradually
mobilized while factor replacement is continued. With early
treatment (within 2 to 3 hours), the hemorrhage in the
muscles usually resolves within 3 to 5 days. Hemorrhages
in the quadriceps femoris and biceps brachii take the longest
time to resolve.7,43
Acute Treatment of Hemarthrosis
Acute bleeding into joints is an emergency requiring imme-
diate attention. With proper education and instructions
about dosage schedules, many patients can be treated at
home by themselves or by a family member. Immediate
treatment of bleeding into joints results in less arthropathy
and minimizes the extent of joint destruction. Home
therapy permits factor replacement as soon as a bleeding
episode takes place. This type of patient self-help, however,
has the disadvantages of inadequate follow-up, the possibil-
ity of transmission of hepatitis to a family member, and an
increased risk of infection because of lack of appropriate
sterile technique in the handling of materials.83,84 The
parents should be instructed that if the bleeding is severe,
with marked distention of the joint, the child should be
brought to the hospital within 4 hours of the onset of hem-
orrhage. It cannot be overemphasized that delay in institut-
ing adequate treatment is the primary cause of crippling
joint deformity in patients with hemophilia. A minimal or
moderate intraarticular hemorrhage may not be so painful
at the onset, and the child will continue to use and bear
weight on the affected limb, causing continuous or intermit-
tent progressive bleeding into the joint. Within a few days,
the joint becomes markedly swollen, very painful, and
inflamed by reaction to the blood, and it develops a fixed
flexion contracture. In case of associated bleeding into the
periarticular tissues and muscles, pain and muscle spasm are
marked from the onset; the patient is apprehensive of
moving the limb and is forced to rest and seek medical
attention.
The affected joint is temporarily immobilized in a
molded, well-padded splint in a position of rest and
minimum hydrostatic pressure. This position varies with
each joint. For example, for the knee, it is 35 to 45 degrees
of flexion, and for the elbow it is 50 to 60 degrees of
flexion. Commercially available semiflexible splints (e.g.,
Jordan splint) provide partial immobilization and moderate
compression.
Compression is effectively achieved by placing a rubber
sponge and elastic bandage over the site of hemorrhage. A
second bandage may be applied intermittently over the first
one to increase tension. The distal circulation should be
carefully watched. Under no circumstances should a circu-
lar plaster cast be used, because the swelling underneath
will obstruct blood flow and cause gangrene or compart-
ment syndrome. The limb should be elevated to reduce
hydrostatic venous pressure. Cold compresses in the form
of ice bags are applied to the affected joint. The clotting
defect is corrected by IV administration of antihemophilic
factor.
Analgesics
Narcotic analgesics are used with care because in such a
chronic disease, addiction can easily become a problem.
Also, the course of the bleeding is best assessed by the
patient, and after being given a heavy analgesic, he or she
will be unable to give proper warning of continued
bleeding.
A diminution in the severity of the pain is the first indica-
tion of cessation of hemorrhage. The circumference of the
joint is measured at intervals to determine whether there is
progressive distention of the joint capsule. Also, analgesic
drugs that contain aspirin, guaiacolate, and antihistamines
inhibit platelet aggregation and prolong the bleeding time.
Administering these medications could produce a secondary
bleeding disorder. If the pain is intolerable and does not

respond to factor replacement and splinting, the pain medi-
cations to be given are propoxyphene (Darvon), acetamino-
phen (Tylenol), codeine, or methadone. A double-blind,
controlled placebo study has found that etoricoxib, a
cyclooxygenase-2 (COX-2) inhibitor, provides significant
improvement in various outcome measures assessing pain
and function versus placebo, with no increased incidence of
hemarthrosis in patients with hemophilic arthropathy.154
Aspiration
The need for joint aspiration has been debated. Some
authors recommend aspiration only for an extremely tense
hemarthrosis and avoid aspiration in ordinary cases, citing
the risk of introducing infection, discomfort to the patient,
and possibility that aspiration will incite more bleeding.123
Others believe that the removal of blood is critical for
avoiding chronic synovitis and that a large hemarthrosis is
much more inviting to infecting organisms than sterile aspi-
ration of the joint.49
Joint aspiration should be performed under strict aseptic
conditions and under local anesthesia. Factors VIII and IX
are administered IV and reach an effective blood level 20
to 30 minutes later, at which time the joint should be aspi-
rated. Later aspiration, after two to three infusions have
been given, will be unsuccessful because of the thickening
and clotting of the hemarthrosis. Aspiration is performed
with an 18-gauge lumbar puncture needle with a stylet. One
or at most two puncture wounds should be made with the
needle. The joint is irrigated with normal saline solution
until the return is clear. The compression dressing and pos-
terior splint are reapplied.
The appropriate factor is administered for 3 to 7 days
after cessation of bleeding. At this time physical therapy to
mobilize the joint is initiated. Isometric muscle exercises
are begun, followed by gentle assisted range-of-motion
(ROM) exercises, first with gravity eliminated and then
against gravity. Between exercises the limb is protected in
an appropriate splint. The ROM of the affected joint is
progressively increased. Weight-bearing joints are protected
with crutches with a three-point gait. Full weight bearing is
not permitted for a minimum of 2 weeks, longer if neces-
sitated by limitation of joint motion and muscle weakness.
Transition to activity must be gradual.
Subacute Hemophilic Arthropathy
Repeated episodes of bleeding into a joint in a relatively
short time result in synovial hypertrophy and persistent
effusion. This is best managed nonoperatively by immobili-
zation of the joint in a well-padded splint and with factor
replacement. Most subacute hemarthroses resolve over a
period of 3 to 4 weeks with this regimen. Aspiration is not
indicated. Isometric exercises are performed to maintain
muscle tone and strength. Initially, passive ROM exercises
are not allowed. Partial weight bearing with crutches is
permitted. With resolution of the synovitis and effusion,
the patient is allowed to return to normal function
gradually.
If the subacute hemarthrosis fails to respond to 3 weeks
of partial immobilization, physical therapy, and factor
replacement, an intraarticular injection of corticosteroid
may be given. Prolonged immobilization of the affected
joint should be avoided because it will result in marked
CHAPTER 43  Hematologic Disorders e651
muscle atrophy and restriction of joint motion. If the knee
is involved, quadriceps atrophy will cause joint instability,
leading to repeated trauma and bleeding.
Support of the lower limb in orthotic devices is indicated
in two cases—when the motor power of the quadriceps or
triceps surae muscle is less than fair or when flexion defor-
mity of the knee or equinus deformity of the ankle is
present to such a degree that mechanical insufficiency of
the lower limb predisposes the child to fall and sustain
repeated injury. Rubbing and recurrent trauma to the oppo-
site thigh or leg caused by the medial caliper is a problem
because it will cause soft tissue bleeding. Only a lateral
upright is used. A well-padded plastic orthosis should be
used whenever possible. When flexion deformity of the
knee or equinus deformity of the ankle develops, appropri-
ate splinting is used at night to keep the part out of the
position of deformity. Ankle splinting may be done initially
with ordinary posterior splints. Recurrent hemarthroses
may be prevented by an ankle support worn during activi-
ties. Air splints, free ankle polypropylene orthoses, and
lacers have all been used. Shock-absorbent heel pads also
have been shown to reduce the impact on the ankle, with
fewer hemarthroses resulting.54
During the stage of subacute hemarthrosis, prophylactic
factor replacement is administered in conjunction with an
intensive physical therapy program. Graduated progressive
active resisted and gentle passive ROM exercises are per-
formed immediately after infusion of the factor in the
evening and the following morning. The patient is allowed
to swim and perform ordinary physical activities of daily
living. Contact sports should be avoided.
Chronic Hemophilic Arthropathy
Chronic hemophilic arthropathy can usually be prevented
by effective and immediate treatment of acute hemar-
throsis. The importance of prevention of chronic ar­­
thropathy, with its accompanying intraarticular fibrosis,
cartilage destruction, and joint stiffness, cannot be
overemphasized.
In the management of chronic hemophilic arthropathy,
four modalities of treatment are available—physical therapy,
orthoses, traction and other corrective appliances, and
surgery. The objective is to correct joint deformity and
restore function.
Nonsurgical Treatment of Joint Deformity
Nonoperative measures should always be used before
surgery. For flexion deformities of the knee and hip, a period
of continuous traction is effective for relieving muscle
spasm and increasing ROM. Traction forces are initially in
the line of deformity and are gradually altered to achieve
correction. Traction with a Russell splint is effective. The
vertical force is exerted by a sling placed under the proximal
tibia when the knee is involved; with the hip, the sling
support is under the distal thigh. In cases of lateral rotation
contracture of the hip, a medial rotation strap is added to
the thigh.
Prophylactic protection with antihemophilic factor is
usually not required for a child in traction. Once a neutral
or almost neutral position is obtained, well-padded plastic
splints are used to maintain the part in the corrected posi-
tion. Active exercises are begun to increase muscle power
e652 SECTION VII  Other Orthopaedic Disorders
and joint ROM. It is best to refrain from forceful passive
stretching exercises.
If functional ROM is not achieved after 2 or 3 weeks of
traction, a wedging cast is applied. Posterior subluxation of
the knee may be prevented by applying an extension-
desubluxation hinge; this will lift the proximal tibia anteri-
orly as the knee is extended.101,111,112,145 For safety,
antihemophilic factor is administered when the cast is
wedged. When full knee extension is achieved, the knee is
immobilized for 7 to 10 days, a plastic splint is used to
maintain the correction, and physical therapy in the form
of active exercises is begun. Partial weight bearing and
three-point crutch gait are permitted gradually. If bleeding
occurs during this period of training, it is controlled by IV
administration of antihemophilic factor. Crutch support is
discontinued and full weight bearing is allowed when there
is functional range of joint motion and at least fair strength
of the quadriceps muscle.
Management of flexion contracture of the elbow follows
the same principles as those for the knee. Equinus defor-
mity of the ankle is treated by a dorsiflexion wedging cast.
Forceful manipulation of a joint under general anesthesia is
not recommended.
The role of physical therapy should not be underesti-
mated. Therapy can play an important role in preventing
and managing joint contractures. Early and aggressive super-
vised physical therapy programs for young patients with
hemophilia have demonstrated significant improvements in
joint ROM and pain scores, with similar significant decreases
in scores assessing disability.52
Surgical Treatment of Deformity
With early treatment and proper collaboration between the
hematologist and orthopaedic surgeon, deformities and
crippling in patients with hemophilia can be prevented or
corrected. If deformities caused by hemarthrosis cannot be
corrected by conservative closed methods, one should not
hesitate to perform open operations. Despite increased
anesthetic risk, it is sometimes preferable to perform two
or three orthopaedic surgical procedures in a single opera-
tive session to avoid repetition of surgical procedures and
reduce factor consumption.127
Hematologic Management
Before surgery is performed, the hematologist determines
the factor level and performs tests to rule out the presence
of factor inhibitors. During surgery and on the first postop-
erative day, the factor level should be raised to 100% by the
infusion of factor concentrate, confirmed by a factor assay
before surgery. The patient is then started on a continuous
infusion of clotting factor to maintain levels at 60% of
normal throughout the operative procedure, with this factor
level maintained until hospital discharge.91 During the first
postoperative week, the factor level is maintained at 50%
and for the next 2 to 4 weeks factor levels are maintained
at 30% to 40% of normal by daily home infusion of factor
concentrate.
During the preoperative evaluation, children with hemo-
philia are screened carefully for the presence of clotting
factor inhibitors. In general, patients with active inhibitors
are not candidates for elective surgery but may be consid-
ered for this after the induction of immune tolerance
through frequent regular infusions of clotting factor concen-
trate.5 Some patients with active inhibitors respond to the
use of factor VIIa as a bypassing agent, although its efficacy
in patients undergoing major surgery is controversial.91 In
addition, the half-life of factor VIIa is approximately 2
hours, and the cost of its administration is several times that
of recombinant factor VIII.
Hemophilic Arthropathy
The most common procedures used to manage hemophilic
arthropathy are synovectomy, joint débridement, fusion,
and arthroplasty. Despite the medical and surgical com-
plexities of hemophilic arthropathy, these procedures typi-
cally result in symptomatic improvement and high levels of
patient satisfaction.91 If equinus deformity is very severe
and rigid, Achilles tendon lengthening is indicated. Frac-
tional lengthening of the hamstrings combined with poste-
rior capsulotomy is performed for flexion contracture of the
knee. On occasion, one may need to resort to osteotomy of
the distal femur, tilting it anteriorly to correct flexion defor-
mity of the knee.128 Even in cases of marked radiographic
joint destruction, corrective osteotomy can yield acceptable
long-term results and may delay or avoid the need for joint
replacement.160 Osteotomy should be contemplated pri-
marily for patients in whom damage is unicompartmental
and accompanied by corresponding axial deviation.
Acute hemarthrosis of the immature hip requires special
considerations, including factor replacement and aspiration
on an urgent basis to reduce the risk for development of
osteonecrosis.91 Discerning hip hemarthrosis from iliopsoas
muscle bleeds can be difficult because the symptoms of
these two conditions may be identical. Iliopsoas bleeds
may, however, be associated with femoral nerve palsy and
numbness in the saphenous nerve distribution, whereas
patients with hip hemarthrosis may demonstrate an
increased femur-to-teardrop distance on anteroposterior
radiographs. CT and MRI reliably differentiate between the
two conditions, and high-resolution ultrasonography may
also be useful.91
Open surgery has become relatively safe, provided that
the clotting mechanism is restored to near normal by the
administration of antihemophilic factor, which should be
continued for 3 weeks, with sutures removed on the 14th
to 16th postoperative day. Wounds and bone heal normally
in hemophilic patients.
Synovectomy.  The objective of synovectomy is to prevent
the progression of hemophilic arthropathy. The rationale for
synovectomy in hemophilic arthropathy is based on the fol-
lowing considerations. Mechanically, the vulnerability to
trauma of the highly vascular synovial tissue is diminished
by its excision, and biochemically, hemophilic synovial
tissue has a high level of fibrinolytic activity that tends to
prolong the bleeding episodes.39,147 Also, the hypertrophic
synovial tissue in hemophilia contains increased levels of
acid phosphatase and cathepsin D, which are further ele-
vated during bleeding episodes; these proteolytic enzymes
destroy hyaline articular cartilage.56,57,162 The chronic syno-
vial inflammation is perpetuated by the elevated levels of
prostaglandin E and polymorphonuclear leukocytes because
of chemotactic properties of the enzymes. Also, hemosid-
erin deposition in the synovium interferes with the

production of collagenase, which may cause death of
chondrocytes.
Synovectomy of peripheral joints, particularly of the
knee, is indicated for patients with a history of severe recur-
rent hemarthrosis (two or three major bleeding episodes per
month) and for those whose condition does not respond to
aggressive medical management maintained for at least 6
months. Medical management involves a prophylactic factor
replacement program that raises factor levels to 30% to 40%
of normal; factor replacement is administered every other
day in hemophilia A and every third day in hemophilia B.
Other indications are failure to respond to orthopaedic non-
surgical treatment (physical therapy and protection with
crutches and orthoses) and radiographic stage II or III
hemophilic arthropathy (in stages IV and V, synovectomy is
ineffective and contraindicated). In the elbow, repeated
hemarthroses result in the loss of forearm rotation and
elbow extension. Limitation of rotation results mainly from
hypertrophy of the radial head.62 A reduction in the inci-
dence of hemarthrosis has been reported after open syno-
vectomy of the elbow, with excision of the radial head to
improve ROM. Synoviorthesis with radioactive gold has
also been reported to be effective for reducing
hemarthroses.109
Arthroscopic Synovectomy.  Although open synovectomy
has been used longer than the other methods, it is often
complicated by the loss of ROM of the affected joint.
Arthroscopic synovectomy, which has now mostly replaced
open procedures, is most useful when performed before
severe degenerative changes have developed. Several reports
have noted a significant reduction in hemarthroses without
loss of motion after arthroscopic synovectomy. A cost-
benefit analysis of arthroscopic synovectomy has identified
significant reductions in disease-related costs per month
and in the number of hemarthroses reported before and
after the procedure—$7500 versus $900, and 71 versus
7 hemarthroses, respectively.149 Arthroscopic procedures
are difficult and often lengthy but avoid some of the motion
problems of open approaches.30,34,90,163 In one study of
arthroscopic synovectomy performed in 69 joints in 44
children, subjects experienced 84% fewer hemarthroses
compared with control subjects. ROM remained stable
or improved within 1 year in patients who underwent
arthroscopic synovectomy, and complications related to the
procedure were rare, although radiographic scores of
patients treated arthroscopically worsened slightly during
the study.30
Open Synovectomy.  Open synovectomy of the knee is
performed under tourniquet ischemia.106 The surgical
approach to the knee is through a long, medial, parapatellar
incision that begins 5 cm above the superior border of the
patella and extends to the medial border of the patella and
then to the medial border of the proximal tibial tubercle.
Throughout the operation, electrocautery is used to main-
tain strict hemostasis. The subcutaneous tissue, fascia, and
capsule are divided and the knee joint is thoroughly
inspected. The proliferative synovial tissue is excised first
from the suprapatellar pouch, then from the medial and
lateral recesses of the knee and intercondylar notch, includ-
ing that around the cruciate ligaments, and finally from the
menisci. The coronary ligaments must be preserved. The
synovial tissue on the articular cartilage is removed gently
CHAPTER 43  Hematologic Disorders e653
with a moist sponge. Growth of the distal femoral physis
must not be disturbed. Next, the joint is copiously irrigated
with antibiotic solution, and Gelfoam mixed with a solution
of injectable saline and thrombin is applied over the denuded
tissues. The wound is packed with moist laparotomy pads,
and after several layers of elastic bandages have been applied
for compression, the tourniquet is released. Five to 10
minutes later, the wound is inspected and thorough hemo-
stasis is obtained. The previously applied Gelfoam is
removed and the wound is closed in layers. Suction drainage
is always inserted. A bulky compression dressing is applied,
and the limb is immobilized in an above-knee, plaster of
Paris posterior splint. The suction drainage is removed in 2
or 3 days.
Postoperative Care.  Isometric quadriceps- and hamstring-
strengthening exercises are begun immediately. Active
ROM exercises should not be commenced early because
they could result in massive hemarthrosis. Seven to 10 days
after surgery, gentle active assisted and passive ROM exer-
cises are started. Toe-touch weight bearing with crutch pro-
tection is allowed as tolerated. Active ROM exercises are
started approximately 2 weeks after surgery. Passive range
of knee motion exercises may also be performed with a
continuous passive motion (CPM) machine 14 days after
surgery, at first for several hours of the day during waking
hours to ensure that there is no bleeding into the joint, and
then for gradually increasing periods. During the third post-
operative week, the limb should be in the CPM machine all
night and part of the day. Active exercises are performed
intensively to develop quadriceps function. Full weight
bearing is allowed gradually.
Problems and Complications.  Postoperative loss of range
of joint motion from adhesions of the patellofemoral and
tibiofemoral joints is a common and challenging problem
after synovectomy for hemophilic arthropathy and may be
greater in younger patients because of poor cooperation
with the postoperative physical therapy program.65,97,106 The
stage of arthropathy, adequacy of control of intraarticular
bleeding during and after surgery, degree of quadriceps and
hamstring atrophy, and patient’s motivation and coopera-
tion are important factors in determining the final ROM.
Intensive, prolonged physical therapy and use of the CPM
machine are vital after synovectomy.
Massive bleeding may occur in the joint during the
immediate postoperative period after synovectomy or
during the rehabilitation phase of treatment. This may
require aspiration or surgical arthroscopic evacuation of the
hematoma.
Despite these complications, the results reported in the
literature have indicated that chronic recurrent hemarthro-
sis and the pain in chronic hemophilic arthropathy can be
effectively eliminated after open synovectomy, which also
appears to slow the pace of progression of the disease.‡
Synoviorthesis.  A number of methods of synovial ablation
using intraarticular radioactive substances have been
reported. Children have been infrequently treated in this
manner because of unresolved concerns of future oncogen-
esis. Rifampicin injected intraarticularly has been shown
to reduce synovial proliferation and the incidence of
‡
References 15, 23, 32, 65, 88, 97, 100, 106, 109, 118, 142, 146, 147.
e654 SECTION VII  Other Orthopaedic Disorders
hemarthrosis. It seems most effective in younger patients
and in smaller joints.18,19
Radiosynovectomy is minimally invasive, does not require
hospitalization, necessitates only minimal clotting factor
coverage, preserves ROM better than surgical synovectomy,
and is highly cost-effective compared with open surgical or
arthroscopic synovectomy.87,91,139 This procedure can be
accomplished successfully without the simultaneous
co-injection of corticosteroids.42,85 Yttrium has been widely
used for radiation synoviorthesis. Its use has been shown to
result in a significant decrease in the frequency of bleeding
episodes, but reports have differed about an association
with significant rates of reduced ROM in treated joints.55,155
Colloidal 32P-chromic phosphate has also been used to
treat hemarthroses. In one series, all patients had a reduced
incidence of hemarthrosis. Of these patients, 50% retained
ROM and the other 50% gradually lost motion. Radio-
graphic scores worsened, despite a reduction in the rate of
hemarthrosis.124 A reduction in the incidence of hemarthro-
sis of the elbow has been reported with synoviorthesis with
radioactive gold and with rhenium-186.129,155 Chemical and
radioisotope synovectomies have been tried for the treat-
ment of chronic hemophilic arthropathy.3,36,41,130 The results
have been dubious; at present, surgical synovectomy is the
procedure of choice.
Total Joint Replacement and Arthrodesis.  Deciding
between total joint replacement and arthrodesis is difficult,
and the decision should be individualized. Disabling pain is
the prime indication for surgery.
Total Joint Replacement.  In case of bilateral knee involve-
ment, total joint replacement is indicated with stage IV or
V arthropathy when persistent knee pain is definitely caused
by joint derangement; there should be at least 45 degrees
of knee motion. Over the years, reported results have been
good.§
The most recent literature reports have suggested that
with the use of modern, continuous factor replacement
during the perioperative period, clinical outcomes can be
equivalent to those of knee arthroplasty in the nonhemo-
philic population.45
Total hip replacement is indicated for stage IV or V
hemophilic arthropathy when persistent pain with severe
disability is not relieved by conservative measures.28,114 Total
joint replacement has been shown to have no adverse effects
on the course of HIV infection in patients with hemo-
philia.116 Arthroplasty of the elbow has been reported.141
Although the available literature on the use of total elbow
replacement for hemophilic arthropathy contains small
cohorts, most patients in these studies have had more pain
relief, preserved function, and the ability to perform activi-
ties of daily living with minimal difficulty.20,99
Arthrodesis.  Arthrodesis of the ankle, subtalar, and mid-
tarsal joints in the foot and shoulder or knee may be indi-
cated when these joints are destroyed. The surgical
technique is the same as for normal patients, except that
percutaneous pins should not be used in hemophilic patients
because they will need factor replacement at moderate
levels until the pins are removed.59,114 Arthrodesis of the hip
is considered when the patient has a destroyed hip, with
§
References 6, 46, 77, 88, 95, 98, 140.
little involvement of the other joints. The indication is
stronger when the child is unlikely to be compliant with
activity restrictions and likely to overstress a total hip
replacement.
Neurapraxia
Neurapraxia is treated by factor replacement therapy in a
sufficient dose to attain factor levels of 80% to 100% of
normal for 48 hours after onset of hemorrhage; the dose is
tapered to maintain a level of 40% for 1 to 2 weeks. The
limb is splinted. Gentle physical therapy is performed 7
days after the bleeding episode. Decompression of the
entrapped nerve may occasionally need to be performed.79
Fractures
Fractures usually heal in the normal time.11,12,24,36,67 Factor
replacement should be to the level of 40% to 60% of normal
on the day of fracture and the following day; subsequently,
it should be 20% to 30% for 7 or more days, depending on
the degree of associated soft tissue injury.36 Whenever pos-
sible, fractures are treated by closed reduction and immo-
bilization in a cast. Pins should not be used for skeletal
traction because the patient will need prolonged factor
replacement therapy. External fixators should be avoided.
Open reduction and internal fixation are carried out when
closed methods are not appropriate.
Flexion Contractures
In areas of the world in which home infusion of clotting
factor is not available, recurrent hemarthrosis is the major
source of morbidity, giving rise to joint destruction and
flexion contracture. Large-joint contractures have been
treated successfully by Ilizarov external fixation under such
circumstances, with factor IX levels maintained at 1.0 IU/
mL before and after surgery. In one reported case, fixed
flexion in the knee joint was reduced from 50 to 5 degrees,
and the child walked freely and without pain 4 months after
surgery.70
Pseudotumors
Treatment of pseuodotumors remains controversial. Con-
servative management consists of factor replacement and
close observation. Greene has recommended that pseudo-
tumors be excised whenever they are accessible and stated
that they will continue to expand if left alone.48 Before
surgical intervention, angiography, CT, and MRI should be
performed to provide accurate anatomic detail of adjacent
vessels.152 The pseudotumor itself is avascular.148 The surgi-
cal extirpation of a hemophilic pseudotumor requires careful
preoperative planning and extensive dissection.53,120,132 Sur-
gical excision, although potentially curative, can be associ-
ated with severe intraoperative hemorrhage. The use of
arterial embolization prior to surgical excision has been pro-
posed as a means to limit operative blood loss.75
Radiation therapy has been used to control the expand-
ing hematoma of hemophilic pseudotumors; irradiation
causes new bone formation and sclerosis of the cystic cavity.
Its use may be considered for surgically inaccessible sites.
It is important to shield the physis to avoid causing a growth
disturbance.85 Amputation of a limb may be indicated when
the patient is seen late or the patient has a deformity so
severe that the limb is of no use.10,25,134

Athletic Participation
Guidelines for athletic participation in children with hemo-
philia have begun to emerge.117 Several studies have docu-
mented the benefit of regular exercise in this patient
population, including fewer bleeding episodes, improved
muscle strength and joint stability, and increased bone
mineral density with weight-bearing exercise.16,107 Further-
more, aerobic activity can temporarily improve coagulation
factors in patients with mild and moderate hemophilia.72 A
retrospective study of hemophilia patients receiving pro-
phylaxis found no difference in the frequency of joint
bleeds or injuries between those participating in high-impact
and low-impact sports, and most children developed less
than one bleed or injury per season.133 Current recommen-
dations for athletic participation dictate that children with
hemophilia receive appropriate factor prophylaxis, develop
written strategies to prevent bleeds, undergo close assess-
ment of muscle and joint function in conjunction with a
physician prior to sport selection, especially for contact
sports, and wear protective equipment, with knowledgeable
coaching staff present to see they receive prompt treatment
if they develop an acute bleed.117
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Sickle Cell Disease
Sickle cell disease is a genetic condition that in the
homozygous state, causes the red blood cells (RBCs) to
become distorted into a sickle shape under conditions of
low oxygen tension. The affected cells are dysfunctional,
which causes a variety of symptoms related to reduced
oxygen delivery to tissues. The disorder primarily affects
individuals of African descent, although cases in whites have
occurred in some countries, including Greece, Turkey, Italy,
and India.
Cause and Pathophysiology
Sickle cell disease is caused by an autosomal dominant gene
that results in the production of an abnormal hemoglobin
termed hemoglobin S. This hemoglobin differs from normal
adult hemoglobin by the substitution of valine for glutamic
acid in the sixth amino acid position in each of the two
β-polypeptide chains.24 Individuals with sickle cell trait
receive the abnormal hemoglobin S gene from one parent
and a normal hemoglobin A gene from the other. Sickle cell
trait occurs in approximately 10% of African Americans.
Sickle cell disease is the homozygous state and occurs in
2.5% of the African American population.
Sickle cell disease also includes conditions in which
the abnormal hemoglobin S is combined with other
abnormal hemoglobin entities, such as hemoglobin C,
D, or E.7 These are termed mixed hemoglobinopathies.
Hemoglobin S may also be associated with other types of
hereditary diseases, such as thalassemia, spherocytosis, or
ovalocytosis.
Orthopaedic Manifestations and Treatment
Bone Infarction
Bone infarction occurs in sickle cell disease when vessels are
occluded by the sickled RBCs. Infarction manifests as
sudden, often severe pain in an extremity, with swelling
over the affected bone. Local warmth, erythema, and
decreased motion of adjacent joints may also occur. The
most commonly affected bones are the humerus, tibia, and
femur. Although bone infarction is far more common than
osteomyelitis in this patient population (50 times more
common in one study16), distinguishing between these two
entities can be difficult, and therefore infection must be
ruled out. To confuse the clinical picture further, the eryth-
rocyte sedimentation rate (ESR) and other inflammatory
markers are often mildly elevated in the setting of a bone
infarction. Fever, however, is uncommon. Technetium scans
may show increased or decreased uptake, and gallium scans
often show increased activity.16
The treatment of bone infarction is supportive and
limited to analgesic administration for pain and aggressive
oral or IV hydration. Antibiotics are often given until the
diagnosis of osteomyelitis has been ruled out.16

Osteomyelitis
Osteomyelitis is a frequent problem in children with sickle
cell disease. In one study, the annual incidence for a patient
was estimated at 0.36%.25 This increased incidence, in com-
parison to that in the normal population, is believed to be
caused by the disruption of small vessel blood flow, which
generates areas of relative tissue ischemia susceptible to
bacterial colonization while also impairing the delivery
of host immunologic cells to the infectious nidus.1 Bone
infarction and osteomyelitis are characterized by localized
erythema, tenderness, and swelling. Both may also be
accompanied by elevation in the ESR and C-reactive protein
levels and a high leukocyte count. One study attempting to
use clinical predictors to differentiate between infarction
and osteomyelitis found that a longer duration of fever and
pain prior to presentation, along with swelling of the
affected limb, were significant predictors of osteomyelitis.
The risk of osteomyelitis was reduced in patients with more
than one site of pain.2 An ill-appearing patient with fever
higher than 38.2° C and localized pain and swelling should
prompt the physician to aspirate or sample the affected area
rather than rely on diagnostic studies, which may be unreli-
able in discriminating between these two diseases.6 Infec-
tion is confirmed by aspirating purulent material from the
bone or by a positive blood culture.6,8
Radiographic studies may help the clinician differentiate
between sepsis and infarction, but careful interpretation is
essential. Plain radiographs in the early stages of either
condition are negative or show only soft tissue swelling.8 At
approximately 2 weeks, both conditions exhibit destruction
of bone and periosteal reaction. Technetium and gallium
scans may help make the differentiation, but both may also
be misleading.16,18 A combination of sequential bone marrow
and bone scintigraphy can help make the diagnosis. Normal
uptake on the bone marrow scan and abnormal uptake on
the bone scan at the site of pain is suggestive of osteomy-
elitis.27 Radionuclide scintigraphy is most useful in locating
multiple sites of infection, especially in the pelvis and spine.
On ultrasonography, a subperiosteal fluid depth more than
4 mm is highly suggestive of osteomyelitis, but patients
with a subperiosteal fluid depth less than 4 mm require
further imaging or aspiration to establish the diagnosis.30
Gadolinium-enhanced MRI remains the preferred
imaging modality when attempting to distinguish between
infarction and osteomyelitis. Sequestration of red blood
cells in the bone marrow can be readily visualized on unen-
hanced T1 fat-saturated sequencing. Because this is the
feature that results in bony infarction, T1 fat-saturated
sequencing may be diagnostic of bone infarction. This
should not demonstrate any contrast enhancement, whereas
regions of acute osteomyelitis would show significant con-
trast enhancement following the administration of gado-
linium.15 Characteristically, children with osteomyelitis in
the setting of sickle cell disease demonstrate elongated,
serpiginous central medullary enhancement, with evident
periostitis.28
The treatment of osteomyelitis must take into account
the altered immune status of the patient and impaired
blood flow to the bone. Prompt operative decompression of
any abscess is essential, and parenteral antibiotic therapy
should be continued for 6 to 8 weeks.5 The most common
CHAPTER 43  Hematologic Disorders e659
organisms causing osteomyelitis in these patients are Staph-
ylococcus aureus and Salmonella spp., with Salmonella spp.
being the causative agent in 60% to 80% of cases.3 Younger
patients are more likely to have Salmonella osteomyelitis.8,26
Septic arthritis in this patient group may also be caused by
Salmonella spp.14 Osteomyelitis caused by vancomycin-
resistant Enterococcus faecium and the anaerobe Fusobacte-
rium nucleatum has also been reported.3,21 In the latter case,
infection did not respond completely to antibiotic therapy
and resolved only after surgical débridement and hyperbaric
oxygen therapy.
Hand-Foot Syndrome
Hand-foot syndrome is characterized by swelling and ten-
derness of the hands and feet of children with sickle cell
disease who are younger than 6 years (Figs. 43-7 and 43-8).
It occurs in up to 58% of children with the disease and may
be the presenting symptom. It appears after approximately
6 months of age, when fetal hemoglobin (hemoglobin F) has
been replaced by hemoglobin S.12 It does not occur after
the disappearance of the hematopoietic marrow from the
hands and feet, at approximately 6 years of age. The clinical
findings of hand-foot syndrome resemble those of osteomy-
elitis and include soft tissue swelling, limited motion, ten-
derness, and pain in the hands and feet of small children.8,12
Although osteomyelitis is rare in the hands and feet of
young children, the disorder must be considered in the dif-
ferential diagnosis. In both conditions, the white blood cell
count and infectious indices are elevated. Higher elevations
in the presence of significant fever suggest an infection.
Blood cultures and aspiration of involved areas may provide
the diagnosis. Antibiotic coverage should include coverage
for Salmonella infection.12
Vertebral Involvement
Hyperplasia of the bone marrow in response to the hemo-
lytic anemia of sickle cell disease causes radiographic changes
in the vertebrae. The height of the vertebrae may be reduced,
and bulging of intervertebral disks into the bodies may be
seen (Fig. 43-9). Compression fractures may cause shorten-
ing of the trunk or the development of a kyphosis.
Vertebral collapse may be caused by AVN of the verte-
bra.26 Spinal osteomyelitis must always be considered in the
differential diagnosis when spinal symptoms appear. In one
center, 24% of patients evaluated for spinal disorders had
osteomyelitis of the vertebrae.26 Surgical decompression
and anterior strut grafting are usually required to eradicate
infection and preserve spinal alignment.
Avascular Necrosis
Avascular necrosis of the femoral head eventually occurs in
19% to 31% of patients with sickle cell disease.10 The
humeral head may also undergo AVN, and this is usually
better tolerated than AVN in the hip.31 Several options for
surgical management of the pediatric sickle cell patient with
AVN have been proposed; these include core decompres-
sion with or without internal fixation, vascularized bone
grafting, pelvic rotational osteotomy, and proximal femoral
osteotomy.19,23,32,33 Although some studies have found that
core decompression with cancellous grafting show favorable
short-term results with regard to halting the progression of
AVN in patients with lower grade lesions, recent studies
e660 SECTION VII  Other Orthopaedic Disorders
C
FIGURE 43-7  Hand-foot syndrome in sickle cell disease. The hands and feet were painful and swollen for 2 weeks. A and B, Radiographs
of the right hand and both feet show patchy areas of bone destruction. C, Radiograph of the left foot obtained 2 months later. Repair is
taking place by creeping substitution.
have found no difference in clinical improvement at 3-year
follow-up between patients undergoing core decompression
and those treated solely with physical therapy.19,29 Total hip
replacement is the eventual treatment for most patients
with AVN. Unfortunately, the results are compromised by
the disease, and complications are frequent.10 In one series,
five of eight arthroplasties required early revision. In addi-
tion, the investigators noted excessive blood loss, prolonged
hospitalization, and medical or surgical complications in all
patients, including those with sickle cell trait. They reported
a failure rate of 50% by 5 years after surgery.13
Surgical Considerations
The operative care of patients with sickle cell disease should
be conducted with focused perioperative optimization,
preferably in conjunction with a hematologist. Preoperative
hydration, oxygen supplementation, and transfusions are all
helpful in limiting intraoperative and postoperative compli-
cations. One study has found that aggressive preoperative
transfusion to raise the hemoglobin level to 9 to 11 g/dL
and lower the hemoglobin S level to less than 30% resulted
in lower rates of postoperative complications and
transfusions.20
The use of a tourniquet in patients with sickle cell trait
or sickle cell disease is considered undesirable by most
investigators because the hypoxia beyond the tourniquet
induces RBC sickling. One author has reported using a
tourniquet in 19 patients with sickle cell disease. The
patients with sickle cell disease had more complications
than those in a control group, and these included bone pain,
severe postoperative pain, jaundice, and tissue edema. All
complications resolved within 2 weeks.22
Autologous blood can be used, as well as blood salvaged
from the surgical field, but both are difficult to store because
of the potential for hemolysis and sickling.9
Miscellaneous Bone Changes
A lower bone mineral density of between 6% and 21% is
usually found in patients with sickle cell anemia.4 Deficits
in whole body bone mineral content seem to persist, even
following adjustments for poor growth and decreased lean
body mass that are common in this patient population.5
Furthermore, children with sickle cell disease have been
noted to have significant deficits in dietary calcium and
circulating levels of vitamin D.17 These children may there-
fore be at risk for insufficiency fractures. Lucencies in the
skull may produce a ground-glass appearance, with loss of
trabecular pattern. Changes in trabecular patterns of the
long bones appear in younger children, corresponding to the
location of active bone marrow.11

A 6. Chambers JB, Forsythe DA, Bertrand SL, et al: Retrospective
B 13. Hanker GJ, Amstutz HC: Osteonecrosis of the hip in the sickle-
FIGURE 43-8  Hand-foot syndrome in sickle cell disease in an
8-month-old infant. Radiographs of the hands (A) and feet (B)
reveal diffuse involvement of the short tubular bones, with patchy
areas of destruction and some periosteal reaction.
FIGURE 43-9  Sickle cell disease in an 11-year-old girl. This lateral
radiograph of the spine shows reduction in the height of the
vertebrae.
CHAPTER 43  Hematologic Disorders e661
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