Radial Deficiency
Radial longitudinal deficiency (RLD) is also known as radial
hemimelia, radial meromelia, and radial dysplasia. The con-
dition is also referred to by the uncomplimentary term radial
club hand. Radial longitudinal deficiency is a component of
radial preaxial deficiencies that affect the upper extremity and
vary from minor involvement of the thenar muscles to com-
plete absence of all preaxial structures [1]. Radial deficiency
is the most common congenital longitudinal deficiency in the
upper extremity occurring in 1/30,000 live births [2]. Radial
longitudinal deficiency is associated with a large spectrum of
preaxial abnormalities ranging from mild deficiency of the
radial digits to complete loss of the radial half of the forearm,
wrist, and thumb, and digits. The pathology may involve the
elbow, forearm, wrist and digital joints and bones, muscles,
and peripheral nerves and vessels.
In a partial radial hypoplasia or complete radial aplasia
the hand appears clubbed and deviated radially, the forearm
is short, the ulna may be curved, the radial carpal bones are
deficient and there are varying degrees of thumb hypoplasia
the most common of which is complete absence. The natural
history of a hand with complete absence of the radius is pre-
dictable (. Fig. 9.1). If nothing is done the carpus and hand
will be pulled into severe flexion and radial deviation into a
clubbed hand posture. Without the distal radius there is no
adequate platform or support for the hand. If the hand and
carpal bone are surgically positioned (as a centralization or
radialization) on top of the ulna, the compression loading and
motion at the ulnocarpal articulation will stimulate growth and
the distal ulna will widen with time. In these cases motion will
never be normal and the major deforming forces will remain
toward flexion and radial deviation. In neglected or recurrent
cases among adolescents, conventional surgical treatment of
centralization or radialization will no longer be options and
salvage ulnocarpal arthrodesis will be indicated [3].
G. M. Rayan, J. Upton III, Congenital Hand Anomalies and Associated Syndromes,
DOI 10.1007/978-3-642-54610-5_9, © Springer-Verlag Berlin Heidelberg 2014
The radiographic classification system includes four types
[4,5]: Type I (15 %) is a short radius due to delayed appear-
ance of the distal radial epiphysis, defined as a distal radial
physis > 2 mm proximal to the distal ulnar physis; Type II is
a grossly short radius with deficient growth of both proximal
and distal epiphyses; Type III is partial absence of the radius
with absence of the distal physis; Type IV (27 %) is complete
absence of the radius (. Fig. 9.2). A more recent modified
classification system [2] has described two additional types
that accounted for 52 % of the patients in their series: type N
has a normal length radius and carpus with thumb hypopla-
sia, type O has a normal length radius and radial side carpal
abnormalities.
Goldfarb et al [6]. studied the incidence of RLD and
found that approximately one third of these patients have
isolated deformities and the remaining 67 % of patients are
either syndromic or have associated systemic or musculo-
skeletal abnormalities, the most common being scoliosis.
Other associated upper limb anomalies include humeral
hypoplasia, proximal radioulnar synostosis, congenital ra-
dial head dislocation, and digital stiffness. The latter, which
is most often termed camptodactyly, is more severe on the
radial side of the hand. The most radial digit is stiff at the
interphalangeal joints and often very close to the adjacent
digit in a flexed position. The most ulnar digit in these pa-
tients is usually the most mobile and functional digit on
the hand (. Fig. 9.3). An association was noted between
increasing severity of RLD and the percentage of patients
with other associated conditions. Additionally, one-third of
patients had syndromic RLD, including thrombocytopenia
absent radius (TAR) syndrome, Holt-Oram syndrome, VAC-
TERL, and Fanconi anemia. Although many strides have
been made in the treatment of these limbs, they are never
normal (. Fig. 9.4).
121
122
Fig. 9.1 Growth of the radial club hand. At age one this child with
complete agenesis of the radius, had a centralization of the hand and
wrist over the distal ulna. An index finger pollicization was completed
on the same hand a year later. At age 5 years, an osteotomy of the dis-
tal radius was performed to correct bowing and club hand posturing.
The interosseous wire used to secure the closing wedge osteotomy can
be used to document longitudinal growth of both proximal and distal
portions of the ulna over a 12 year period. Note the persistent ulnar
9 Radial Deficiency
bowing that developed over time and the widening of the distal ulna,
which looks more like a radius than ulna at skeletal maturity. With time
and growth, the hand has moved into more radial deviation and slight
flexion. The muscular imbalance caused by the strong pull of the extrin-
sic flexors is responsible for the persistent distortion with growth. This
marker demonstrates the programmed growth at both ends of the radius
has been deficient in comparison to the opposite, unaffected forearm,
which was 16 cm longer at skeletal maturity
9 Radial Deficiency 123

Fig. 9.2 Classification of radial club hand (from [4]). The most com-
monly used classification system for radial forearm deficiencies has five
categories. Type I: The radius is short but the elbow, wrist, and hand are
normal. Type II: Miniature radius, which is short with proximal and
distal epiphyses, the ulna may be slightly bowed and the hand and wrist
are radially deviated. Type III: The radius is partially absent, the ulna
bowed, and the hand and wrist postured in radial deviation, pronation,
and flexion. Type IV: The radius is completely absent, the ulna may be
bowed, and the hand and wrist are in the same posture as Type III. Each
X-ray corresponds to the illustration above. Although this system does
not incorporate associated proximal limb deficiencies, there is a direct
correlation between the severity of the forearm and hand deficiency and
malformations of the elbow, humerus, shoulder, and, in many children,
the ipsilateral neck and chest wall. A moderate or marked amount of
radial deviation may be present with types II, III, IV. (With kind per-
mission from Mathes, SJ, Hentz, VR. (2006) Plastic Surgery, Vol. 8.
Saunders; 2nd. Edition, p. 64, Illustration by Jean Biddl)

Fig. 9.3 Radial aplasia/hypoplasia. In these hand molds, two variants

of “clubbed hand” posturing are seen: Type IV (complete absence) on
the left and Type II (radius in miniature) on the right. Both have a com-
plete absence of the thumb. Note that both radial digits are character-
istically flexed, have diminished flexion creases and the smaller web
spaces. The deviation on the left is a complete dislocation of the carpus
and hand. On the right the deviation is secondary to a short radius and
deficient or absent carpal bones, specifically trapezium, scaphoid, and
lunate. There is a direct relationship between the length of the radius
and the degree of radial deviation and flexion. All degrees of variation
exist in both syndromic and nonsyndromic patient groups
124
Fig. 9.4 Aplasia of thumb and radius a This child with a Type IV radial
deficiency was treated with a stretching and night splinting program
29 years ago. b A standard centralization was performed at 5 months
of age. The large pin was removed 6 months later. The location of the
centralized extensor muscle tendon units is seen in their centralized po-
sition. c With wrist motion and dynamic compression, the distal ulna
rapidly widened. Note the hypertrophy of the long metacarpal caused
by the Steinman pin. d An index pollicization was performed at age
9 Radial Deficiency
2 years. Because the preoperative motion of this digit was diminished in
all three joints, the position of the new thumb is in less abduction than
normal. His postoperative motion was also diminished. e Within a year,
the third metacarpals remodeled. The left hand remained in a central-
ized position. On the opposite upper limb, his radius was normal and
a Type IIIA hypoplastic thumb reconstruction was performed. In col-
lege, he excelled in athletics as a midfielder on the varsity lacrosse team
9 Radial Deficiency 125

References
Associated Syndromes
1. Upton J III. Management of transverse and longitudinal deficien-
cies (Failure of formation). Chapter 203;51–138, in Mathes Plastic TAR syndrome
Surgery vol 8. Hentz V (editor). Saunders Elsevier 2006. VACTERL association
2. Green DP, Hotchkiss RN, Pederson WC, et al. Operative hand sur-
gery. 5th ed. New York: Churchill Livingstone; 2005. Nager syndrome
3. Rayan GM. ulnocarpal arthrodesis for recurrent radial club hand de- Goldenhar syndrome
formity in adolescents. JHS 1992; 17 A 24–7. Duane syndrome
4. Bayne LG, Klug MS. Long-term review of the surgical treatment of Hemifacial microsomia and radial dysplasia
radial deficiencies. J Hand Surg [Am]. 1987; 12: 169–79.
5. James MA, McCarroll HR Jr Manske PR. The spectrum of radial Baller-Gerold syndrome
longitudinal deficiency: a modified classification. J Hand Surg [Am]. 
1999; 24: 1145–55. Fanconi pancytopenia syndrome
6. Goldfarb CA, Wall L, Manske PR. Radial longitudinal deficiency: Holt-Oram syndrome
the incidence of associated medical and musculoskeletal conditions.
J Hand Surg [Am]. 2006; 31: 1176–82. Juberg-Hayward syndrome
Levy-Hollister (LADD) syndrome
Keutel-Kindermann syndrome
Thalidomide syndrome
Cat eye syndrome
Aase syndrome (Diamond-Blackfan anemia)
Microgastria-limb reduction complex
Cornelia de Lange syndrome
Goldenhar syndrome
Roberts s syndrome
Rothmund-Thompson syndrome
Trisomy 18
Laurin-Sandrow syndrome
Townes-Brocks syndrome
Steinfeld syndrome
126
TAR Syndrome
AKA
Thrombocytopenia-absent radius syndrome
Thrombocytopenia-radial aplasia syndrome
Thrombocytopenia-phocomelia syndrome
Hallmarks Thrombocytopenia, bilateral absence of radius
and ulna hypoplasia.
Background TAR is an acronym for thrombocytopenia ab-
sent radius. Gross et al [1]. in 1956 were probably the first to
describe this condition. Hall et al. [2] from McKusick group
at Johns Hopkins Hospital gave the syndrome its TAR des-
ignation in 1969. This is a rare condition within the group of
Fig. 9.5 Clinical appearance a Typical appearance of a TAR baby with
bilateral clubbed hand posturing, intact thumbs, and short arms and
forearms. Note the brachycephalic cranium, mandibular retrognathia,
and turned-up nasal tip. The chest wall is normal. b There is a com-
plete absence of the radius. The forearm is very short and the hand rests
within the antecubital fossa. An intact biphalangeal thumb rests in an
adducted position across the palm
9 Radial Deficiency
radial dysplasia or radial longitudinal deficiency groupings.
The incidence of TAR is 0.42 per 100,000 live births.
Etiology It is an autosomal recessive condition due to mi-
crodeletion in chromosome 1q21.1, a mutation in the RNA-
binding motif protein 8 A gene.
Presentation At birth a child with bilateral complete absence
of the radii with what appear to be intact thumbs should be
diagnosed as a TAR baby until proven otherwise (. Figs. 9.5,
9.6, 9.7, 9.8 and 9.9). The diagnosis can be suspected at birth
in some patients because of Cow’s milk allergies or intol-
erance which gives rise to hematologic abnormalities. Ap-
proximately half of the patients have cow’s milk intolerance,
Fig. 9.6 Clinical appearance. A 1-year-old infant with TAR syndrome
has developed bimanual hand function following centralization. The
shoulders are very narrow with intact glenohumeral joints. Thumb flex-
ion and extension is present
TAR Syndrome
Fig. 9.7 Anatomic structures a There is a complete absence of the ra-
dius and an intact ulnohumeral joint. Radial carpal bones, not ossified
at this age, are also deficient. The thumb metacarpal is present with an
intact TM joint. b Extensor tendons in the 3rd, 4th, and 5th compart-
[3] which precipitates eosinophilia, leukemoid reaction, and
contributes to thrombocytopenia.
Hematologic abnormalities in TAR are in the form of
thrombocytopenia, which is usually present at birth and is
most likely the result of a dysmegakaryocytosis that has been
attributed to a viral illness. Thrombocytopenia with deficient
megakaryocytes leads to easy bruising, recurrent bleedings
including nose bleeds and hemorrhages. Intracranial bleeding
can be life threatening. Bone marrow is hypocellular. Hema-
tologic findings are present at birth and most severe in early
infancy but decrease after one year and continue to improve
later in childhood. Adults with TAR do not have these per-
sistent hematologic problems. All major sequelae including
intracranial bleeding, severe neurologic deficits and death
occur early in life. Approximately 40 % of these children die
within the newborn period.
In contrast, Fanconi anemia with pancytopenia symptoms
appear later and the thumb is more affected than the radius.
The thumbs may be hypoplastic but are always present in
127
ments are shown and the EPL tendon is typically present as seen on the
far left. c A large radial nerve in the median position known also as the
“radian nerve” is always seen as a tight structure on the radial side of
the forearm
these patients [4]. This is the only condition in which one
sees a Type IV (Blauth classification) radial aplasia can be
seen that has a well-formed thumb including a metacarpal
and intact TM joint.
General musculoskeletal The patient may have short stat-
ure. Developmental milestones may be normal unless there
are hematologic, neurologic, or cardiac problems.
Upper extremity The shoulders are hypoplastic (. Fig. 9.6),
the humerus is smaller than normal and the elbow well seg-
mented and often with normal flexion and extension. There
is bilateral dysplasia of the radius (100 %) and hypoplasia of
the ulna in 100 % of cases. The ulna may be absent bilaterally
in 20 %, or unilaterally in 10 % [5]. The classic posture of
these limbs is the radial clubbed hand with an intact thumb.
Thumbs are always present, vary tremendously in their posi-
tion and function, and are not always mirror images (enan-
tiomorphic) of one another. Compared to normal published
128
Fig. 9.8 Hand and digit posture a At birth the hand and carpus are dis-
located radial to the distal ulna with the “clubbed hand” posture. Note
the extension of the border index and fifth rays due to the presence of an
intact proprius extensor tendon. The thumb cannot be seen but is posi-
tioned within the palm. The radial digits are stiffer than the ulnar digits.
values for length, width, and girth, these thumbs are much
broader and flatter. Pulp girth is diminished. Flexion and ex-
tension at the IP joint varies but can be noticeably absent. The
MP joint is usually flexed and the thumb is positioned across
the palm (. Fig. 9.5). However, these are not the same as
“clasped thumb” deformities seen in arthrogryposis. These
thumbs are not normal but can be functional because the
child adapts and can use them in large object grasping and
key pinching. Thenar intrinsic muscles are usually present
but weak and do enhance IP joint extension and MP flexion.
Digital hypoplasia decreases from radial to ulnar with the
fifth finger being the most normal in the hand (. Figs. 9.7,
9.8 and 9.9). Ulnar deviation clinodactyly of the index finger
is common. Thumb extrinsic muscles, which normally arise
from the radius and interosseous membrane, are typically ab-
sent. Extensor tendons within the 3rd through 6th dorsal com-
partments are present, notably the extensor pollicis longus
(EPL) in the 3rd compartment (. Fig. 9.7). Digital extension
when present is better than flexion.
Occasionally there may be phocomelia, shoulder hypopla-
sia, phalangeal or carpal coalitions, syndactyly, and clinodac-
tyly [6,7]. An abnormal muscle, assumed to be a brachiocar-
palis muscle, extends from the upper portion of the humerus
to the carpus and hand and acts as a deforming force which
accentuates the radial club hand posture [8]. Although this
muscle is present in some non-TAR radial longitudinal defi-
ciencies, it is present in most, if not all TAR patients. Another
tight structure that prevents passive stretching of the hand into
a neutral position is a contracted “radian” nerve.
9 Radial Deficiency
The skin is redundant and expanded over the distal ulna. b X-ray shows
absence of the radius and bowing of the ulna. c Extensor tendons are
realigned during a surgical centralization. Note the intact, independent
EPL leading to the thumb
Lower extremity The following anomalies may be encoun-
tered: hip dislocations, knee subluxation, knee ankylosis,
genu varum, coxa valga, and patella dislocation. The foot
may have talipes equinovarus deformity and an overlapping
fifth toe [6].
Spine Spina bifida and scoliosis.
Craniofacial The patient may have micrognathia, a promi-
nent forehead, and low-set ears, cleft palate, and intracranial
vascular malformations. The head can be brachycephalic, the
mandible retruded, and the nose turned up.
Systemic Thrombocytopenia, absence or hypoplasia of
megakaryocytes, leukemoid granulocytosis, eosinophilia,
and anemia are the most common systemic anomalies. Kid-
ney anomalies were reported along with gonadal hypoplasia
in males and females [7]. Congenital heart problems may
include tetralogy of Fallot VSD, ASD, and coarctation of the
aorta. Gastrointestinal bleeding often precipitates the need
for transfusions during the first two years of life. There is no
susceptibility to viral or bacterial infections but in one case
hypogammaglobulinemia was noticed [3].
TAR Syndrome 129

References

1. Gross H, Groh C, Weippl G. Kongenitale hypoplastische Thrombo-

penie mit Radius-Aplasie, ein Syndrom multipler Abartungen. Neue
Oest. Z. Kinderheilk. 1: 574 only, 1956.
2. Greenhalgh KL, Howell RT, Bottani A, et al. Thrombocytopenia-
absent radius syndrome: a clinical genetic study. J Med Genet. 2002;
39: 876–81.
3. Hall JG, Levin J, Kuhn JP, et al. Thrombocytopenia with absent
radius (TAR). Medicine 48: 411–439, 1969.
4. Goldfarb CA, Wustrack R, Pratt JA, et al. Thumb function and ap-
pearance in thrombocytopenia: absent radius syndrome. J Hand Surg
Am. 2007. Feb; 32 (2): 157–61.
5. Jones K. Smith’s recognizable patterns of human malformation,
6th edition. 2006. Elsevier Saunders Philadelphia Pennsylvania.
Page 364–5.
6. Poznanski A. The hand in radiographic diagnosis, 2nd edition. WB
Saunders, 1984, page 587–9.
7. Temtamy S and McKusick V. The genetics of hand malformations.
1978; Alan R. Liss Inc., New York. Page 106–13.
8. Oishi S, Carter P, Bidwell T, et al. Thrombocytopenia absent radius
syndrome: presence of a brachiocarpalis muscle and its importance.
J Hand Surg, 34 A: 1696–1699, 2009

Fig. 9.9 TAR wrist and hand. The mold of this TAR hand contains all
the classic features: The patient had complete absence of the radius
and total dislocation of the carpus and hand. The mold shows extended
border digits with flexed central digits, an intact biphalangeal thumb in
a flexed position, and moderate deficiency of the first web space
130
VACTERL Association
AKA
VATER association
VACTERR association
Hallmarks VACTERL is an acronym for Vertebral defects,
Anal atresia, Cardiovascular anomalies, Tracheoesophageal
fistula, Renal atresia, and preaxial Limb anomalies. An asso-
ciation is a nonrandom propensity for certain malformations
to occur more often than would be expected by chance with-
out being an element of a syndrome. The original acronym
of VATER has been expanded to VACTERL. It is important
to note that VACTERL is not in itself a specific diagnosis or
syndrome, rather a nonrandom association of defects.
Background The above-mentioned combination of associ-
ated malformations was described by Quan and Smith in 1972
[1]. The incidence is 1/6,000 live births.
Etiology The condition is sporadic and has increased fre-
quency in offspring of diabetic mothers. Mutation has been
localized to the homeobox D13 gene (HOXD13) [2].
Presentation The original VATER acronym stood for ver-
tebral, anal, tracheoesophageal, and radial dysplasia. In
VATERR the additional R is for renal. The additional C in
Fig. 9.10 VACTERL. This infant presented with bilateral radial ab-
sence and three-fingered hands. She had multiple reconstructions of her
TE fistula and a colostomy for her anal atresia. She is on constant oxy-
9 Radial Deficiency
VACTERL is for cardiac. There is nonrandom association
of these described anomalies [3] and the diagnosis can be
made if three of seven major factors are present. The chil-
dren may initially fail to thrive but they have normal cogni-
tion. The presence of anomalies in the gastrointestinal and
genitourinary systems makes this clinical distinction more
likely than the Holt-Oram syndrome. In general these patients
present with many systemic problems more serious than their
musculoskeletal problems, which are normally deferred, un-
til the life-threatening cardiac, gastrointestinal, and/or renal
anomalies are corrected (. Figs. 9.10, 9.11 and 9.12). These
children are typically referred to tertiary care centers because
their care is difficult and they need a multidisciplinary team
of specialty physicians.
Upper extremity Radial dysplasia is present in 65 % of pa-
tients and often bilateral, including thumb or radial hypopla-
sia. If one examines the opposite extremity carefully subtle
deficiencies such as hypoplasia of the thenar musculature are
often found. Hypoplasia of carpal bones is not unusual which
becomes evident with growth.
A Sprengel deformity of the shoulder and humeral hy-
poplasia occur in less than 10 % of children [4]. The fore-
arm is the site of the most common deformities with all
degrees of radial hypoplasia and aplasia (. Fig. 9.10). In
contrast to the TAR syndrome, no specific type of radial
deficiency is characteristic for this association. The forearm
gen for her hypoplastic lungs. Vertebral and scapular anomalies are also
present. Radiographs of both upper extremities on the far left and right
show total absence of the radius, thumb, and index rays
VACTERL Association
Fig. 9.11 VACTERL a Another child with this association shows bi-
lateral absence of thumb and index finger with no forearm bones on
the right and a small ulna on the left. She does have a torticollis and
and hand deficiencies are not symmetric and growth delay
is programmed since birth. Major arm and forearm length
discrepancies seen at birth will persist until skeletal matu-
rity. Many surgical options are available for these hands
(. Fig. 9.13, 9.14).
All degrees of thumb hypoplasia/aplasia are also seen in
these patients. Those with severe longitudinal radial deficien-
cies of the hand and forearm will have more proximal abnor-
malities in the elbow, arm, and shoulder (. Fig. 9.11). An
extended elbow with no skin flexion crease heralds absence
of the elbow flexors, biceps, and brachialis muscles. This de-
ficiency must be addressed prior to any distal limb surgical
manipulation (. Fig. 9.10).
131
a unilateral deformational plagiocephaly. b A marked spinal deformity
is secondary to hemivertebrae at the midthoracic level
Radial polydactyly and syndactyly may be present on the
limb opposite the radial deficiency [5]. Ulnar polydactyly
has been encountered but only in pedigrees with a very high
penetrance for this ulnar polydactyly. Ipsilateral syndactyly is
common and involves the 1st and 2nd interdigital web spaces.
In these hands the thumb is usually absent. The webbing is
always simple without bony synostosis and may be either
complete or incomplete. Triphalangeal thumb and nail dys-
plasia may also be present.
Lower extremity Lower limb anomalies are less common
and these include absent fibula, absent great toe, and club-
foot.
132
Fig. 9.12 VACTERL a The discrepancy in forearm length has re-
mained disproportionately great in this 35-year-old lady with VAC-
TERL. Pronation and supination of the longer right forearm has been
restricted due to subtle radial head changes and slight bowing of the
radius. Centralization of the left hand and carpus required the removal
of many existing carpal bones. b Absence of thenar muscles of the
Spine Vertebral anomalies (70 %) [5] (. Fig. 9.11) can be
encountered such as hemivertebrae and malformed or absent
sacrum [6]. The scoliosis or kyphoscoliosis in these children
is often severe.
Craniofacial Hydrocephalous and torticollis were reported
[7]. Deformational plagiocephaly is not a distinct part of this
association but has been noted in many patients labeled as
VACTERL (. Fig. 9.10).
9 Radial Deficiency
right hand has been treated with abductor digiti quinti muscle (Huber)
transfer, collateral ligament reconstruction, and web space widening.
c The radiograph shows a stiff left index digit that has been placed
into the thumb position to function as a static post. She had adapted to
these limb deformities but continues to suffer from laryngeal strictures,
esophageal strictures, and cardiac anomalies
Systemic Anal atresia with or without fistula (80 %), T–E
fistula with esophageal atresia (70 %), cardiac defects
(53 %), renal anomaly (53 %), and single umbilical artery
(35 %) were reported. [5] Cardiovascular defects include
patent ductus arteriosus, ASD, VSD, transposition of the
great vessels, and tetralogy of Fallot. Genitourinary anoma-
lies include: aplasia, dysplasia, ectopic kidneys, ureteral re-
flux, and uteropelvic junction obstruction and hypospadias
in males.
VACTERL Association 133

References

1. Quan L., Smith D. W. The VATER association: vertebral defects,

anal atresia, tracheoesophageal fistula with esophageal atresia, radial
dysplasia. Birth Defects Orig. Art. Ser. 8(2): 75–78, 1972.
2. Garcia-Barcelo MM, Wong KK, Yuan Z, et al. Identification of
a HOXD13 mutation in a VACTERL patient. Am J Med Genet
146 A:3181–3185, 2008
3. Barnes JC, Smith WL. The VATER Association. Radiology. 1978
Feb; 126 (2): 445–9.
4. Fernbach SK, Glass RB. The expanded spectrum of limb anomalies
in the VATER association. Pediatr Radiol. 1988; 18 (3): 215–20.
5. Jones K. Smith’s recognizable patterns of human malformation,
6th edition. 2006. Elsevier Saunders Philadelphia Pennsylvania.
Page 756–9.
6. OMIM #192350. Online Mendelian Inheritance in Man. Johns Hop-
kins University. 2007
7. Al Kaissi A, Ben Chehida F, Safi H, Nassib N, et al. Progressive
congenital torticollis in VATER association syndrome. Spine (Phila
Pa 1976). 2006 May 20;31(12):E376–8.

Fig. 9.13 Serial X-rays of forearm growth in VACTERL. Within the

first year of life, the radiograph of this infant shows complete agenesis
of the radius and the outcome of a centralization of the hand and wrist
over the distal ulna without carpal bone excisions. An index polliciza-
tion was completed on the same hand one year later. At age 5 years and
6 months, an osteotomy of the distal radius was performed to correct
bowing and club hand posturing. The interosseous wire used to secure
the closing wedge osteotomy can be used to document longitudinal
growth of both proximal and distal portions of the ulna over a twelve-
year period. Note the persistent ulnar bowing that developed over time
and the widening of the distal ulna, which appears like a radius at skel-
etal maturity. With time and growth, the hand has moved into more
radial deviation and slight flexion. The muscular imbalance caused by
the strong pull of the extrinsic flexors is responsible for the persistent
distortion with growth. This marker demonstrates the programmed
growth at both ends of the radius to be deficient in comparison to the
contralateral unaffected forearm, which was 16 cm longer at skeletal
maturity (With kind permission from Mathes, SJ, Hentz, VR. (2006)
Plastic Surgery, Vol. 8. Saunders; 2nd. Edition, p. 66)
134
Fig. 9.14 Radialization and distraction lengthening a Serial radiographs
of a child with a Type IV radial deficiency demonstrate the character-
istic pattern of development. Following an aggressive stretching pro-
gram, radialization without carpal resection was performed at 4 months
of age. After five weeks, the longitudinal pin was removed and active
motion started. Pollicization was completed at age 18 months. Radi-
alization and the tendon rebalancing procedures prevented recurrent
radial deviation with growth and the distal ulna widened so much that
9 Radial Deficiency
it resembled a radius more than an ulna. b As a teenager, he requested
distraction lengthening of his short forearm. Distraction using a unipla-
nar device produced a 95.0 mm gap over 12 weeks. The intercalated gap
was then filled with a demineralized cadaveric bone graft secured with
a plate and screws (below). Of note, with slow distraction, his forearm
flexors and extensors were not weakened. Size is proportional to age
(With kind permission from Mathes, SJ, Hentz, VR. (2006) Plastic Sur-
gery, Vol. 8. Saunders; 2nd. Edition, p. 131)
Nager Syndrome 135

Nager Syndrome

AKA
Acrofacial dysostosis (AFD 1)
Mandibulofacial dysostosis
Split hand deformity-mandibulofacial dysostosis
Treacher-Collins-like syndrome

Hallmarks Radial hypoplasia, malar hypoplasia, and ear

malformations. A suggested acronym is MER for mandibu-
lofacial dysostosis, ear anomalies and radial hypoplasia.

Background Felix R. Nager was an otolaryngologist

(. Fig. 9.15) from Zurich who in 1948 in collaboration with
deReynier [1] reported a case with mandibulofacial dysosto-
sis and radial defects and suggested the name acrofacial dys-
ostosis for the condition. The eponym was added by Temtamy
[2]. The condition is rare with less than 100 cases reported.

Etiology Most cases are sporadic but autosomal dominant

inheritance was suggested.[3 A] specific gene has not been
identified, some believe that it is caused by changes in a par-
ticular region of chromosome 9q32.

Presentation Nager syndrome is due to abnormal develop-

ment of the first and second branchial arches. The first arch
produces the nerves and muscles responsible for chewing,
lower jaw, two middle ear bones, and a portion of the auricles.
The second arch produces the nerves and muscles responsible
for facial expression, one middle ear bone, most of the exter-
nal ears, and parts of the palate. Gender distribution of Nager
syndrome is equal. There is 20 % perinatal mortality but later
in life normal growth and stature are expected and the patient
usually has a normal level of intellect. Facial anomalies lead
to airway obstruction and feeding difficulty. The limb ab-
normalities distinguish this entity from the Treacher-Collins
syndrome, which may also have all degrees of hypoplasia of
the mandible and zygoma.
Upper extremity The severity of the limb malformations is
proportional to the severity of the mandibular and maxillary
deformities. These patients have varying degrees of radial
dysplasia often in the form of bilateral absence of the radius
along with secondary malformed ulna. Humeroradial synos-
tosis is present in severely affected children (. Fig. 9.16).
This causes the forearm to be short. If an elbow joint is
present, motion may not be normal. Proximal radioulnar
synostosis is common (. Fig. 9.17). There is often thumb
hypoplasia or aplasia and when missing the most radial ray
is often joined to the next ray at the metacarpal level giv-
ing the appearance of a synostosis (. Fig. 9.16). Other less
frequently occurring anomalies include: thumb polydactyly,
triphalangeal thumb, simple complete and incomplete syn-
Fig. 9.15 Felix R. Nager (1877–1959)
dactyly, clinodactyly, and metacarpal synostoses. The most
common limb presentation at the clinic of one of this book’s
editors (J.U.; Boston Children’s Hospital) has been Types
IIB, IV, and V thumb hypoplasia and a proximal radioulnar
synostosis (. Fig. 9.17).
Lower extremity There may be missing or hypoplastic toes,
congenital hip dislocation, soft tissue toe syndactyly, broad
hallux, and clubfeet.
Spine Scoliosis and cervical vertebral anomalies are occa-
sionally encountered.
Craniofacial Ear abnormalities include bilateral atresia of
the external ear canal, malformed auricles and defects of the
external auditory canal causing conductive deafness, low-set
posteriorly rotated ears, and preauricular tags. There is an
antimongoloid slant to the eyes, notched lower eyelid (colo-
boma), and absent lower eyelashes. There is often hypoplasia
of facial bones and mandibular ramus and temporomandibu-
lar joint aplasia, macrostomia and micrognathia. There is ex-
tension of scalp hair to cheeks and may be microphthalmia,
cleft palate, palatal aplasia, choanal atresia, and high nasal
bridge [3,4] (. Fig. 9.16). There is moderate to severe hear-
ing loss due to inner ear abnormality.
136
Fig. 9.16 Nager syndrome a Marked facial deformities caused by
the absence of zygomas and mandible are seen in this patient who has
had a tracheostomy since birth. He has severe hearing loss due to poor
development of the inner ear, low-set ears, and no malar eminences.
Note the diminutive mandible in the 3-D CT scan. b Both shoulders are
hypoplastic and arms/forearms fused at the elbow level. Ulnohumeral
synostosis is present on the left side. His arms and hands can be posi-
9 Radial Deficiency
tioned behind his back as well as in front. Radius is completely absent
on the right and partially absent on the left. c Multiple digits are missing
on both hands. The right hand shows clinodactyly and triphalangeal
digits. The small digit on the radial border is either an index finger or
a polydactyly of the middle ray. On his left side three rays are present
and the most ulnar is the smallest. The thumb and index rays are absent
Nager Syndrome 137

Fig. 9.17 Nager syndrome a Three views of this girl’s face show se- tosis. c Both thumbs were absent and index fingers were moved into the
vere malar and mandibular hypoplasia. She is unable to open her mouth thumb position during pollicization procedures (With kind permission
due to ankylosis of her temporomandibular joint. She has a tracheos- from Mathes, SJ, Hentz, VR. (2006) Plastic Surgery, Vol. 8. Saunders;
tomy and is wearing conductive hearing aids. b The trochlear notch is 2nd. Edition, p. 62)
poorly developed and there is limited forearm motion and severe elbow
flexion contractures. A proximal radioulnar synostosis is present bilat-
erally. The biceps and brachialis muscles attach directly onto the synos-
138 9 Radial Deficiency

Systemic The patient may have cryptorchism, cardiac defect,

or Hirschsprung disease. [4]

References

1. Nager F. R., de Reynier J. P. Das Gehoerorgan bei den angeborenen

Kopfmissbildungen. Pract. Otorhinolaryng. 10 (suppl. 2): 1–128,
1948.
2. Temtamy S and McKusick V. The genetics of hand malformations.
1978; Alan R. Liss Inc., New York. Page 92.
3. Aylsworth A. S., Friedman P. A., Powers S. et al. New observations
with genetic implications in two syndromes: (1) father to son trans-
mission of the Nager acrofacial dysostosis syndrome; and (2) paren-
tal consanguinity in the Proteus syndrome. Am. J. Hum. Genet. 41:
A43 only, 1987.
4. OMIM #154400. Online Mendelian Inheritance in Man. Johns Hop-
kins University. 2007. Available at: http://www.omim.org/.
Goldenhar Syndrome 139

Goldenhar Syndrome

AKA
Oculoauriculovertebral spectrum (OAVS)
Oculoauriculovertebral dysplasia
Facioauriculovertibral sequence

Hallmarks Hemifacial microsomia, vertebral defects, and

epibulbar dermoid and occasional radial ray deficiency.

Background The first documentation of this disorder was

in 1952 by Maurice Goldenhar. [1] He was an American
ophthalmologist and general practitioner, who came to the
United States from Belgium in 1940 and returned to Europe
after World War II for additional medical studies. He later
returned to America and described the syndrome that car-
ried his name. Prevalence of occurrence is estimated to be 1
in 3,000 to 1 in 5,000 live births. There is a slight male (3:2)
predominance.

Etiology Most cases are sporadic but it can have an auto-

somal dominant mode of transmission. [2] Up to 2 % of first
degree pedigree may have related anomalies.

Presentation These children are born with combinations of

a large spectrum of defects involving the first and second
branchial arches. All gradations of hemifacial microsomia
(. Fig. 9.18a), vertebral defects, renal anomalies, and ocular
malformations including epibulbar dermoids are seen. The
ipsilateral hand may have a radial longitudinal deficiency and
some may be bilateral. In a study of 294 patients, Rollnick
et al. [3] found slight male prevalence and more than two
thirds were Caucasians.
General musculoskeletal Although most children appear to
be smaller than siblings, growth is well within normal lim-
its. There is normal intelligence and cognitive development.
However, mental deficiencies can occur (13 %).
Fig. 9.18 Goldenhar syndrome (Oculoauriculovertebral spectrum).
a This child has hypoplasia of the right maxilla, mandible and overly-
ing soft tissues, a small eye, a broad nasal bridge, malocclusion, bilat-
eral auricular malformations, and hearing loss on the left side. The epi-
bulbar dermoid makes the Goldenhar designation possible. b A Type
IIIA (German classification) thumb hypoplasia is present on the right
upper limb. Median nerve innervated intrinsic muscles are very hypo-
plastic and the first web space is deficient. c On the opposite left side
there is a complete absence of the radius, radial club hand posturing,
and absence of the thumb and presumably the scaphoid and trapezium.
It is unusual to see bilateral facial and upper limb involvement

Upper extremity Radial dysplasia seen on the ipsilateral
side to the hemifacial anomalies is encountered in some
cases. Complete or partial absence of the radius with ra-
dial club hand posturing (. Fig. 9.18b, c) is observed
along with noticeable minor radial deficiency on the op-
posite hand. Thumb anomalies such as hypoplasia [4] and
radial polydactyly may be encountered especially when ra-
dial dysplasia is present. Thumb aplasia may also be seen
(. Fig. 9.19b). Acro-osteolysis of the terminal phalanges
has been observed. [5]
Lower extremity No foot or toe anomalies are typically
present.
Spine Hemivertebrae or hypoplasia of vertebrae are most
common at the cervical level and also seen at the thoracic and
lumbar levels. Fused cervical vertebrae and spina bifida oc-
culta of multiple lumbar vertebrae may be encountered along
with torticollis.
Craniofacial Features of hemifacial microsomia with resul-
tant facial asymmetry include hypoplastic maxilla, mandible,
impaired temporomandibular joint development, delayed
eruption of teeth and accompanying soft tissue deficiencies
(. Fig. 9.19a). There may be occasional facial nerve weak-
ness. The full spectrum of auricular anomalies ranging from
preauricular tags to complete microtia [6] and hearing loss
140 9 Radial Deficiency

References

1. Goldenhar M. Associations malformatives de l’oeil et de l’oreille. J

Genet Hum 1:243, 1952.
2. Regenbogen L., Godel V., Goya V., et al. Further evidence for an
autosomal dominant form of oculoauriculovertebral dysplasia. Clin.
Genet. 21: 161–167, 1982.
3. Rollnick BR, et al: Oculoauriculovertbral dysplasia and variants:
phenotypic characteristics of 294 patients. Am J Med Genet 26:631,
1987.
4. OMIM # 164210 Online Mendelian Inheritance in Man. Johns Hop-
kins University. 2007. Available at: http://www.omim.org/.
5. Das A, Ray B, Das D, Das S. A case of Goldenhar-Gorlin syndrome
with unusual association of hypoplastic thumb. Indian J Ophthalmol.
2008;56(2):150–2.
6. Derbent M., Yilmaz Z., Baltaci V, et al. Chromosome 22q11.2 dele-
tion and phenotypic features in 30 patients with conotruncal heart
defects. Am. J. Med. Genet. 116 A: 129–135, 2003.
7. Digilio M. C., Calzolari F., Capolino R., et al. Congenital heart de-
fects in patients with oculo-auriculo-vertebral spectrum (Goldenhar
syndrome). Am. J. Med. Genet. 146 A: 1815–1819, 2008.
8. Ozdemir O, Arda K, Turhan H, et al. Goldenhar’s Syndrome. Asian
Cardiovasc Thorac Ann. 2002 10(3):267–9.

Fig. 9.19 Goldenhar syndrome (Oculoauriculovertebral spectrum).

a Despite soft tissue correction the soft tissue asymmetry and deficien-
cies include the entire left side of the face. The left orbital socket is
small, zygoma absent, maxilla hypoplastic, temporomandibular joint
absent, and hemimandible very hypoplastic. Cervical hemivertebrae are
present. Only the lobule of the auricle is present and many preauricular
nubbins have been removed. There is a major malocclusion with cross
bite. b A Type IIIB thumb hypoplasia is present on the ipsilateral hand
to the facial anomalies

may be present. One study [3] showed that the majority of

patients had bilateral symmetric microtia. There may be a hy-
poplasia of parotid gland and decreased oral saliva formation.
Patients have epibulbar dermoid, lipodermoids, and a notch
in the upper eyelid (. Figs. 9.18a and 9.19a).
Other occasional anomalies include: cleft lip and palate,
coloboma of the upper eyelid, ear malformation, heminostril,
and tracheoesophageal fistula with or without esophageal
atresia [5].

Systemic Reported congenital heart defects include membra-

nous or muscular ventricular septal defect, atrial septal defect,
and tetralogy of Fallot along with pulmonary atresia. [7,8]
Duane Syndrome 141

Duane Syndrome

AKA
Duane’s retraction syndrome
Duane’s radial dysplasia syndrome
Duane-radial ray syndrome
Congenital retraction syndrome
Okihiro syndrome
Stilling-Turk-Duane syndrome

Hallmarks Eye movement disorder and radial dysplasia.

A suggested acronym is ER for eye movement disorder and
radial dysplasia.

Background Alexander Duane (. Fig. 9.20) was an Amer-

ican ophthalmologist. He was not the first to describe the
condition but in 1905 he reported 54 cases, summarized all
the clinical findings, reviewed previous work, and offered
theories on the pathogenesis and treatment of the condition
[1]. Okihiro et al. in 1977 reported a family with Duane syn-
drome and hypoplasia of the thenar muscles in five persons
from three generations [2].
Etiology The syndrome maps to chromosome 8q13 or
to chromosome 2q31 and is caused by mutations in the
CHN1 gene.
Presentation The condition is due to failure of abducens
cranial nerve VI to develop normally leading to restriction
or absence abduction, adduction, or both, and narrowing of
the palpebral fissure with retraction of the globe on attempted
eye adduction.
Upper extremity Radial dysplasia and thumb hypoplasia
(. Fig. 9.21a) are common upper extremity findings and can
be bilateral. Although the localized abducens nerve paralysis
may be unilateral, there is no specific correlation between the
severity of the radial dysplasia and the side of the extraocular
nerve palsy. Bilateral radial ray defects are often symmetric.
The entire limb may be affected with a distal to proximal
severity. Occasionally there may be pectoral muscle hypo-
Fig. 9.20 Alexander Duane (1858–1926)
plasia, syndactyly, camptodactyly, radioulnar synostosis, and
polydactyly [3]. Thumb duplication has been reported [4]and
thumb hypoplasia is predominant. The hand malformations in
this syndrome are distinctly different compared to the Moe-
bius and Poland syndromes, where the whole spectrum of
symbrachydactyly may be seen.
Spine A Klippel-Feil cervical anomaly may be present. Sco-
liosis and kyphoscoliosis may be present.
Craniofacial The condition is manifested in the eye as a
strabismus pattern (. Figs. 9.21b and 9.22c) characterized
by congenital horizontal ophthalmoplegia or lack of eye
movement in abduction or adduction or both. Ear malfor-
mation and cleft palate may be present. We have also seen
deformational plagiocephaly, which has not been previously
described.
Systemic Deafness, and kidney and heart abnormalities may
be encountered [3,5].
142 9 Radial Deficiency

Fig. 9.21 Duane syndrome a An infant with bilateral thumb hypopla- is present in the right eye. c Pollicization was done after excision of the
sia classified as Type IIIA on the right and Type IIIB on the left. Note hypoplastic thumb
intact pectoralis muscles and normal lower extremities. b Mild ptosis
Duane Syndrome 143

Fig. 9.22 Duane syndrome a The same boy as in . Fig. 9.21 at the age hypoplastic thumbs have been resected and index pollicizations per-
of 6 years. He is small for his age. The left shoulder is depressed and formed. c With forward gaze both eyes are straight. (Left) Unilateral
both upper limbs shorter than normal. The torticollis and plagiocephaly ptosis is present. (Center) Abducens palsy is evident in the right eye
are improved. Mild scoliosis is being treated with serial casting. b The with lateral gaze to the patient’s right (Right)

References

1. Duane A. Congenital deficiency of abduction, associated with im-

pairment of adduction, retraction movements, contraction of the
palpebral fissure and oblique movements of the eye. 1905. Arch
Ophthalmol. Oct 1996;114(10):1255–6; discussion 1257.
2. Okihiro MM, Tasaki T, Nakano KK, et al. Duane syndrome and
congenital upper-limb anomalies: a familial occurrence. Arch. Neu-
rol. 34: 174–179, 1977.
3. Temtamy S and McKusick V. The genetics of hand malformations.
1978; Alan R. Liss Inc., New York. Page 133–134.
4. Parentin F, Perissutti P. Solitary median maxillary central inci-
sor Duane retraction syndrome, growth hormone deficiency and
duplicated thumb phalanx: a case report. Clin Dysmorphol. 2003
12(2):141–2.
5. OMIM # 126800 Online Mendelian Inheritance in Man. Johns Hop-
kins University. 2007. Available at: http://www.omim.org/.
144
Hemifacial Microsomia with Radial Defect
AKA
Goldenhar syndrome with ipsilateral radial defect
Hemifacial microsomia with ipsilateral radial defect
Oculoauriculovertebral spectrum with radial defect
Hallmarks It is a defect involving first and second branchial
arch derivatives along with radial dysplasia, including hemi-
facial microsomia, unilateral deformity of the external ear,
a small ipsilateral half of the face, and vertebral anomalies.
Background Gorlin [1] in 1963 proposed the term oculoau-
riculovertebral dysplasia. Hodes et al. [2] described a patient
with the clinical features of Goldenhar syndrome and an ip-
silateral radial defect. Craniofacial and oromaxillofacial sur-
geons prefer the terms hemifacial microsomia or craniofacial
microsomia. Hemifacial microsomia is a common group of
malformations involving derivatives of the first and second
branchial arches. In addition to maxillary and mandibular
defects there may be cranial anomalies, cardiac, vertebral,
central nervous system, and ocular anomalies. Vendramini
et al. [3] postulate that radial defects associated with oculo-
auriculovertebral spectrum might represent a subset within
this spectrum.
Etiology Most reported cases are sporadic, but there are fa-
milial cases that exhibit autosomal dominant inheritance due
to trisomy 7 mosaicism.
Presentation There may be a history of the mother taking
birth control pills and antihistamines during the first trimester
of pregnancy. The syndrome is reported among Brazilian pa-
tients [3,4]. All but the subtlest malformations are present at
9 Radial Deficiency
birth. Many patients will be first diagnosed by the pediatrician
and then sent to the craniofacial or maxillofacial specialist for
correction of facial deformities and to the limb surgeon for
the radial ray defects.
General musculoskeletal The patient may be of low weight
and short.
Upper extremity An ipsilateral radial defect is the salient
feature of this syndrome. Triphalangeal thumbs, thumb du-
plication, thumb hypoplasia, and absent thumb have been
reported. [1,4,5] When present the radial dysplasia may be
bilateral but is more severe on the same side as the major
facial anomalies. When severe deformity such as a radial
clubbed hand, shortened forearm or absent thumb is present
on one side, some degree of radial dysplasia will be found on
the opposite side (. Fig. 9.23). Transverse deficiency in the
form of congenital limb amputation was reported but is rare
[3]. Aphalangia and scapular abnormalities may be present
and shortness of the arm and to a lesser extent the forearm
is common.
Spine Torticollis and hemivertebrae may be present.
Craniofacial The degree of craniofacial anomalies is not di-
rectly related to the severity of the limb defects (. Fig. 9.24).
Facial asymmetry, cleft lip and palate (. Fig. 9.25), bifid
tongue, oral cleft, preauricular ear tags and pits, skin tags
along with a hypoplastic mandible may be encountered.
Many intraoral and extraoral deformities are seen including
malocclusions, microsomia, and contractures.
Systemic Patent ductus arteriosus, narrowing of the thoracic
aorta, and hypoplastic right pulmonary artery [7].
Hemifacial Microsomia with Radial Defect 145

Fig. 9.23 HFM with radial dysplasia a Facial and skeletal appearance reconstructed Type IIIA thumb. Note the absent scaphoid and slight
in a young girl with Type II HFM (OMIM classification). Mandible and radial deviation. More severe dysplasia is present on the left aide where
maxilla on the left side are severely constricted. Panorex radiograph the index digit has been moved into a thumb position. There is widen-
shows crowded teeth and absent molars. b Her right hand shows a well- ing of the distal ulna ten years after formal centralization
146 9 Radial Deficiency

Fig. 9.24 HFM with thumb hypoplasia and absence a This 20-year-old
man shows minimal deformity of the left side of his face where both
maxilla and mandible have been augmented. Orthodontic manipulation
was all that was needed to correct intraoral occlusal problems. b A Type
IIIA thumb hypoplasia was present on the right side and corrected sur-
gically. The radius is shorter and narrower than normal and the scaphoid
is absent. These teenagers typically present during adolescence with
wrist problems relating to ulnar impaction and triangular fibrocartilage
complex tears. A well-performed pollicization was completed on the
left hand when the patient was 2 years old. Similar wrist problems have
occurred on contralateral side. Though present, the scaphoid is sclerotic

Fig. 9.25 HFM, cleft lip and radial dysplasia a This teenaged girl has
References: a very well repaired cleft lip and palate, which were associated with
hypoplasia of both maxilla and mandible. She also had a microtia and
hearing loss on the same side. Missing incisor tooth is related to the
1. Gorlin RJ, Jue KL, Jacobsen V, et al. Oculoauriculovertebral dyspla-
cleft deformity. b A severe radial dysplasia with absence of the thumb
sia. J. Pediat. 63: 991–999, 1963
and index digits was present on the right side and a Type IIA thumb hy-
2. Hodes ME, Gleiser S, DeRosa G, et al. Trisomy 7 mosaicism and
poplasia on her left side. c Despite wrist centralization as a 1-year-old
manifestations of Goldenhar syndrome with unilateral radial hypo-
child, her radial deviation recurred and both wrist and elbow autofused
plasia. J. Craniofac. Genet. Dev. Biol. 1: 49–55, 1981
after the adolescent growth spurt. d On her right side her first web space
3. Vendramini S, Richieri-Costa A, Guion-Almeida ML. Oculoau-
was released and thumb palmar abduction (opposition) restored with
riculovertebral spectrum with radial defects: a new syndrome or an
a muscle transfer
extension of the oculoauriculovertebral spectrum: report of four-
teen Brazilian cases and review of the literature. Europ. J. Hum.
Genet. 15: 411–421, 2007
4. Van Bever Y, van den Ende JJ, Richieri-Costa A. Oculo-auriculo-
vertebral complex and uncommon associated anomalies: report on
8 unrelated Brazilian patients. Am. J. Med. Genet. 44: 683–690, 1992
5. Moeschler J., Clarren S. K. Familial occurrence of hemifacial mi-
crosomia with radial limb defects. Am. J. Med. Genet. 12: 371–375,
1982
6. OMIM # 141400 and 164210 Online Mendelian Inheritance in Man.
Johns Hopkins University. 2007. Available at: http://www.omim.org/.
Baller-Gerold Syndrome 147

Baller-Gerold Syndrome References

AKA
Craniosynostosis-radial aplasia syndrome
Hallmarks Coronal craniosynostosis with brachycephaly
and radial aplasia. A suggested acronym is CBR for cranio-
synostosis brachycephaly and radial aplasia.
Background The condition was described separately by
two German physicians Friedrich Baller [1] in 1950 and M.
Gerold [2] in 1959. The condition is very rare perhaps at an
incidence of 1 in a million live births.
1. Baller F. Radiusaplasie und Inzucht. Z Mens Vererb Konst. 1950; 29:
782–90.
2. Gerold M. Frakturheilung bei einem seltenen Fall kongenitaler
Anomalie der oberen Gliedmassen. Zentralbl Chir. 1959; 84: 831–4.
3. Jones K. Smith’s recognizable patterns of human malformation,
6th edition. 2006. Elsevier Saunders Philadelphia Pennsylvania.
Page 492–3.
4. Anoop P, Sasidharan CK. Baller-Gerold syndrome. Indian J Pediatr.
2002 Dec; 69 (12): 1097–8.
5. Ceylan A, Peker E, Dogan M, et al. Baller-Gerold syndrome associ-
ated with dextrocardia. Genet Couns. 2011;22(1):69–74.
6. OMIM #218600 Online Mendelian Inheritance in Man. Johns Hop-
kins University, 2007. Available at: http://www.omim.org/.

Etiology Autosomal recessive mutations in DNA helicase,

RecQ-like, type 4 (RECQL4) gene on chromosome 8q24.3.
The condition seems to be related to Rothmund-Thomson
syndrome (RTS) and RAPADILINO syndrome.

Presentation Approximately 20 % of live-born infants die

unexpectedly during the first year of life. Intelligence is usu-
ally normal but the child may have mental retardation.

General musculoskeletal Growth retardation and short stat-

ure.

Upper extremity Radial aplasia/hypoplasia (70 %) which

can be bilateral, short, curved ulna (68 %), absent or hypo-
plastic thumbs (100 %), carpal synostosis, and absent carpals,
metacarpals, or phalanges especially of the radial digits.

Lower extremity Absent or hypoplastic patella may be pres-

ent along with occasional toe polydactyly.

Craniofacial Craniosynostosis (100 %), low-set, poste-

riorly rotated ears (64 %), micrognathia (50 %), prominent
nasal bridge (42 %), down-slanting palpebral fissures (32 %),
microstomia (32 %), epicanthal folds (27 %), and a flattened
forehead (27 %) [3]. Other anomalies include cleft palate and
nystagmus.

Systemic Anal anomalies (40 %) such as ectopic anus [4]

and imperforate anus, urogenital anomalies (35 %), cardiac
defects especially atrial septal defect and dextrocardia [5].
Skin discoloration and atrophy may be present and poikilo-
derma may develop in infancy.