Patient with Pfeiffers syndrome treated by

midfacial distraction and comprehensive

orthodontics
YongJong Park,
a
Paul C. Hobar,
b
Douglas P. Sinn,
c
and Supakit Peanchitlertkajorn
d
Hayward, Calif, and Dallas, Tex
Treatment for patients with craniofacial anomalies always presents a great challenge to orthodontists. Treatment
usually requires both comprehensive orthodontic treatment and orthognathic surgery. In this article, we report on
a patient with Pfeiffers syndrome treated by midfacial distraction and comprehensive orthodontics. (AmJ Orthod
Dentofacial Orthop 2011;139:260-70)
P
feiffers syndrome is a rare autosomal dominantly
inherited disorder that is associated with midfacial
retrusion, craniosynostosis, broad thumbs and
large toes, and partial syndactyly. Hydrocephaly is also
found occasionally, along with severe ocular proptosis,
ankylosed elbows, abnormal viscera, slow development,
signicant upper airway compromise, and obstructive
sleep apnea.
1
Dental characteristics of the syndrome
are similar to those of Aperts syndrome, Crouzons syn-
drome, and other craniofacial synostoses. General dental
characteristics are maxillary hypoplasia, Class III maloc-
clusion, anterior and posterior crossbites, anterior open
bite, and severe crowding of the maxillary arch due to
hypoplasia. However, Alvarez et al
2
reported Pfeiffers
syndrome patients with natal teeth. The incidence of
Pfeiffers syndrome is 1 in 100,000 persons.
3
In addition to these medical and dental problems,
patients with craniofacial synostosis are likely to have
psychosocial problems because of their appearance.
Physical appearance is signicantly related topsychosocial
well-being in children and young adolescents. Children
with craniofacial anomalies are reported to have fewer
social activities, problematic peer relationships, and
psychological adjustment problems.
4-6
It is also believed
that, if correction of the deformities could occur at
a younger age, there would be fewer psychosocial
problems.
7
Distraction osteogenesis has become a popular
treatment of choice tocorrect severe skeletal discrepancies
in the maxillofacial region over the past decade. This
technique has been applied to treat severe midfacial
hypoplasia related to cleft lip and palate or other
syndromes.
8
DIAGNOSIS AND ETIOLOGY
The patient was referred to Childrens Medical Center
of Dallas, Texas, at the age of 2 with a chief complaint
of facial abnormalities. She had marked midfacial hypo-
plasia, mild hypertelorism, broad thumbs, and large toes
(Fig 1). After a thorough examination, she was diagnosed
with Pfeiffers syndrome. The physical examination
showed no signs of neurologic problems or increased in-
tracranial pressure. Neither were there signs or symptoms
of upper airway constriction or obstructive sleep apnea.
Therefore, no treatment was deemed necessary at that
time. At the age of 4, orbital hypertelorism was corrected
by a craniofacial surgeon (Fig 2). The patient recovered
well from the surgery and continued to be followed by
the craniofacial team annually.
At the age of 11 years, the patient began complaining
of both masticatory and psychosocial problems because
of severe midfacial retrusion. Therefore, a surgical-
orthodontic plan was developed to address these prob-
lems. The facial examination showed a severely concave
prole, decreased lower facial height, and decient inci-
sal display on full smile. Dentally, she was in the late
mixed dentition. She exhibited Class III molar and canine
a
Clinical assistant professor, Division of Plastic Surgery, University of Texas
Southwestern Medical Center, Dallas.
b
Clinical associate professor, Division of Plastic Surgery, University of Texas
Southwestern Medical Center, Dallas.
c
Clinical professor, Division of Oral and Maxillofacial Surgery, University of Texas
Southwestern Medical Center, Dallas.
d
Adjunct Clinical Assistant Professor, Department of Plastic Surgery, Stanford
University, Palo Alto, CA.
The authors report no commercial, proprietary, or nancial interest in the prod-
ucts or companies described in this article.
Reprint requests to: Supakit Peanchitlertkajorn, 1866 B St, Site 201, Hayward, CA
94541; e-mail, supakit@att.net.
Submitted, October 2008; revised and accepted, June 2010.
0889-5406/$36.00
Copyright 2011 by the American Association of Orthodontists.
doi:10.1016/j.ajodo.2010.06.020
260
CASE REPORT
relationships, a negative overjet of 10 mm, an overbite
of 50%, and severe maxillary and mandibular anterior
crowding. Cephalometrically, she had a retrusive maxilla
with an ANB angle of 1

, a at mandibular plane angle,

a relatively normal anteroposterior position of the
mandible, and proclined mandibular incisors (Figs 3
and 4, Table).
Pfeiffers syndrome is caused by a mutation of a bro-
blast growth factor receptor gene, FGFR1 or FGFR2. A
mutation of either FGFR1 or FGFR2 causes prolonged
signaling, which can promote early maturation of bone
cells and premature fusionof bones.
3
Maxillary hypoplasia
causes severe maxillary arch crowding and crossbite. A at
mandibular plane angle and decreased lower facial height
also are caused by overclosure of the mandible due to
a hypoplastic maxilla. There are 3 types of Pfeiffers
syndrome.
3
Type I, or classic Pfeiffers syndrome, involves
mild manifestations including brachycephaly, midface
hypoplasia, nger and toe abnormalities, and normal
intelligence. Patients with type I generally have a good
prognosis. Patients with type II have a cloverleaf skull,
extreme proptosis, nger and toe abnormalities, elbow
ankylosis or synostosis, developmental delays, and
neurologic complications. Patients with type III are similar
to type II except for the cloverleaf skull.
TREATMENT OBJECTIVES
The general treatment objectives for patients with
craniofacial synostosis are to achieve favorable facial
balance and dental occlusion. It was also reported that
patients with a severe craniofacial anomaly can often
experience airway problems.
9,10
Therefore, the airway
must be considered when planning treatment if the
patient suffers from breathing problems or sleep
apnea. Since this patient had no airway problems, the
treatment objectives for her were to (1) create a well-
balanced facial prole by advancing her midface,
(2) eliminate her ocular proptosis, (3) slightly increase
her nasal bone projection, (4) increase her maxillary
incisal display, (5) create proper overjet and overbite,
(6) align her dentition, and (7) establish maximal inter-
digitation of her teeth.
TREATMENT ALTERNATIVES
Treatment options for patients with craniosynostosis
vary depending on the severity of the skeletal and dental
problems and the patients psychosocial condition. If the
midfacial hypoplasia is mild, the treatment usually
involves conventional LeFort III or monobloc advance-
ment along with comprehensive orthodontic treatment
in the permanent dentition.
11
For patients with more
severe dental and skeletal conditions, LeFort III midfacial
distraction is usually required for a more stable outcome
in addition to comprehensive orthodontic treatment.
Unlike orthognathic surgery, distraction osteogenesis
can be performed on younger patients whose growth
has not been completed.
11,12
Two treatment plans were presented to the patient
and her parents. Both involved distraction osteogenesis
because of the severity and the patients age. The rst
plan would begin with preoperative orthodontic prepa-
ration, followed by LeFort III distraction, and would
Fig 1. Characteristic features of Pfeiffers syndrome.
Fig 2. Facial change after hypertelorism correction.
Park et al 261
American Journal of Orthodontics and Dentofacial Orthopedics February 2011 Vol 139 Issue 2
nish with postoperative orthodontic treatment. The
second plan would start with LeFort III distraction and
be followed by comprehensive orthodontic treatment.
The second plan was chosen based on the patients com-
plaint of psychosocial problems related to her midfacial
hypoplasia. The plan aimed to resolve her severe midfa-
cial retrusion as early as possible to improve her psycho-
social well-being. The comprehensive orthodontic
treatment would then correct any residual malocclusion
and maximize her dental esthetics. The orthodontic plan
Fig 3. Pretreatment photographs and x-rays.
262 Park et al
February 2011 Vol 139 Issue 2 American Journal of Orthodontics and Dentofacial Orthopedics
Fig 4. Pretreatment dental casts.
Table. Cephalometric analysis
Pretreatement Postdistraction Final
Norm Value SD Value SD Value SD
Skeletal measurements
N-A-Pg 5.5 22.6 4.5 0.9 4.5 7 4.5
A-B k OP (mm) 0.5 2.1 2 4.2 2 3.4 2
SNA 82 69.1 3 79.5 3 79.7 3
SNB 80 79.9 4 78.2 4 81.5 4
ANB 2 10.8 1.5 1.3 1.5 1.8 1.5
OP-HP 9 8.1 2.5 0 2.5 3.9 2.5
PP-HP 0.5 3.7 3 6.5 3 7.1 3
MP-HP 25 20.5 5 20.5 5 18.7 5
Y-axis (SGn-FH) 60 57.2 3 55.5 3 55.9 3
UFH (N-ANS/[N-ANS1ANS-Me]) (%) 43 43.5 100 45.6 100 45.5 100
LFH (ANS-Me/[N-ANS1ANS-Me]) (%) 57 56.5 100 54.4 100 54.5 100
Ba-S-N 130 122.4 100 120.8 100 116.6 100
Dental measurements
1/ (HP) 110 112.5 6.5 116.3 6.5 118.3 6.5
/1 (HP) 60 68.4 4.5 69 4.5 70.9 4.5
1/-(UL) (mm) 2.5 0.4 1 0.6 1 0.5 1
1/1 130 135.9 8 132.7 8 132.6 8
/1 (MP) 90 91.1 5 90.5 5 90.4 5
/1 (A-Pg) (mm) 2.5 8.7 2 0.6 2 3.1 2
/1 (N-Pg) (mm) 3.5 1.6 2.5 0.3 2.5 0.8 2.5
Soft-tissue measurements
Facial convexity (G-Sn-Po) 13.5 8.2 5.5 16.2 5.5 8.5 5.5
UL protrusion (UL-SnPg) (mm) 3.5 2.5 1.8 4.8 1.8 5.3 1.8
LL protrusion (LL-SnPg) (mm) 2.8 4.6 1.7 1.5 1.7 2.1 1.7
Upper lip to E-plane (mm) 3 6.4 2 2.3 2 5.2 2
Lower lip to E-plane (mm) 2.5 1.1 2.5 3.2 2.5 4.3 2.5
Park et al 263
American Journal of Orthodontics and Dentofacial Orthopedics February 2011 Vol 139 Issue 2
included extraction of the maxillary and mandibular rst
premolars because of severe crowding.
TREATMENT PROGRESS
Orthodontic and surgical records were obtained to
plan for anterior movement of the midface and the
maxillary dentition. The dental casts showed that the
maxillary and mandibular arches were coordinated. It
was also determined that the maxillary teeth, when
brought forward, would t the mandibular teeth in
a stable position. A surgical stent for a halo-type distrac-
tion device (rigid external distraction device) was
fabricated. It was then banded to the maxillary rst mo-
lars and bonded to the lingual surfaces of the maxillary
teeth before surgery. During the surgery, the LeFort III
osteotomy was made to mobilize the midfacial complex,
and then the distraction device was placed and attached
to the surgical splint and the nasal bone (Fig 5). After
a 7-day latency period, the activation began. The rate
of distraction was 1 mm of advancement per day. The
patients midface was distracted anteriorly until a favor-
able facial prole was obtained and the ocular proptosis
was eliminated.
After distraction, a Class II molar relationship and 4 mm
of overjet were achieved for overcorrection to compensate
for future mandibular growth (Figs 6 and 7). The maxilla
was advanced 15 mm. No anterior open bite was
observed. The patient continued to wear the distractor
for another 3 months to allow for consolidation.
Orthodontic treatment began after the distractor was
removed. The maxillary and mandibular rst premolars
were extracted because of the severe anterior crowding.
Fixed appliances consisting of 0.018-in slot brackets
were placed on the maxillary and mandibular anterior
teeth, and 0.022-in slot brackets were bonded to the
posterior teeth. After initial leveling and aligning, the
maxillary and mandibular extraction spaces were closed
with sliding mechanics by using elastomeric chains. A
gingivectomy was performed on all second molars to
increase crown length for banding. Once all the
orthodontic treatment objectives were achieved, the
orthodontic appliances were removed, and maxillary and
mandibular removable Hawley retainers were delivered.
TREATMENT RESULTS
A well-balanced facial prole was obtained. The
patients ocular proptosis was eliminated. Class I canine
and molar relationships were obtained. The dentition
was well aligned. Appropriate overjet and overbite were
achieved (Table). The nal panoramic radiograph shows
good root parallelism with no root resorption. Superim-
position of the predistraction and postdistraction cepha-
lograms demonstrated that the patients midface was
moved forward without tipping of the maxillary
incisors. No clockwise rotation of the mandible was
observed (Figs 8-10). Her mandible continued to grow
in a normal range after distraction and during
orthodontic treatment. A favorable prole was achieved
despite a negative posttreatment ANB angle. The
negative ANB could have been due to the forward
displacement of the nasal bone (nasion point) during
the distraction osteogenesis. The superimposition of
the predistraction and postorthodontic cephalograms
showed the following changes as a result of treatment
(Fig 11): (1) correction of the midfacial hypoplasia by
midfacial advancement, (2) correction of the negative
overjet by maxillary advancement, (3) maintenance of
the mandibular plane angle after distraction, (4) normal
mandibular growth after distraction, and (5) good
stability of the maxilla after distraction.
The patient was satised with both the facial and
dental treatment outcomes. Her parents also reported
that she became more condent and socially outgo-
ing. The treatment took 49 months for both distrac-
tion osteogenesis and orthodontics. After 2 years of
retention, the occlusion is stable, and good facial es-
thetics have been maintained. Cephalometric superim-
positions showed no noticeable change in skeletal
pattern with a slight increase in the proclination of
the maxillary and mandibular incisors (Figs 12 and
13).
DISCUSSION
Treating patients with craniosynostosis such as Crou-
zons disease, Aperts syndrome, and Pfeiffers syndrome
Fig 5. Placement of the halo distractor.
264 Park et al
February 2011 Vol 139 Issue 2 American Journal of Orthodontics and Dentofacial Orthopedics
requires an interdisciplinary approach fromboth medical
and dental specialties. These specialists participated in
interdisciplinary care to optimize the treatment. The
team, referred to as a craniofacial team, usually consists
of an orthodontist, a pediatric dentist, a prosthodontist,
a plastic surgeon, a maxillofacial surgeon, a neurosur-
geon, an ophthalmologist, a geneticist, a pediatrician,
a psychologist, and a speech pathologist. This patient
was evaluated and treated by the craniofacial team
at the Dallas Childrens Medical Center. Distraction
Fig 6. Postdistraction photographs and cephalogram.
Park et al 265
American Journal of Orthodontics and Dentofacial Orthopedics February 2011 Vol 139 Issue 2
Fig 7. Postdistraction dental casts.
Fig 8. Superimposed tracings (black, initial; blue, postdistraction).
266 Park et al
February 2011 Vol 139 Issue 2 American Journal of Orthodontics and Dentofacial Orthopedics
osteogenesis is usually indicated for severe skeletal
hypoplasia, and conventional orthognathic surgery is
indicated for mild or moderate conditions. Distraction
can also be performed in younger patients, whereas
conventional orthognathic surgery is usually performed
when facial growth is complete.
13
In this patient, the
midface could be distracted without orthodontic
preparation; this allowed us to address the patients
psychosocial problems earlier than with conventional
orthognathic surgery.
Fig 9. Posttreatment photographs and x-rays.
Park et al 267
American Journal of Orthodontics and Dentofacial Orthopedics February 2011 Vol 139 Issue 2
Fig 10. Posttreatment dental casts.
Fig 11. Superimposed tracings (black, initial; red, posttreatment).
268 Park et al
February 2011 Vol 139 Issue 2 American Journal of Orthodontics and Dentofacial Orthopedics
When midfacial distraction is planned, clinicians
should consider the nal positions of other midfacial
structures, such as inferior orbital rim, malar bone, and
nasal bone. As the midface is distracted forward, an
anterior open bite could occur by counterclockwise
rotation of the midface. To prevent such a rotation, ad-
ditional wires attaching fromthe nasal bone or the zygo-
matic arch to the distractor are often used to control the
midface as it comes forward. However, these wires can
cause some changes to the structures to which they
are attached. In this patient, wires were attached to the
distractor from the nasal bone and the intraoral stent.
Superimposition of pretreatment and postdistraction
cephalograms shows no counterclockwise rotation of
the maxilla. An increased nasal projection was also
achieved by forward movement of the nasal bone.
LeFort III advancement is usually indicated for
hypoplasia of the upper midfacial structures (malar, or-
bital, and nasal bones). When performed alone, it is
sometimes inadequate to correct the discrepancy at the
dentoalveolar level. Therefore, patients and parents
should be advised of possible LeFort I orthognathic
surgery after facial growth to maximize the occlusal
relationships.
14
Some clinicians reported the use of internal distrac-
tors. Internal devices are less conspicuous and more
accepted by patients than external devices. However,
the distraction vector cannot be adjusted during activa-
tion, unlike the external type. They are also harder to
place because of the anatomy and poor bone quality
of the maxilla. As a result, external devices are used
more frequently because of their easier placement and
removal. However, scarring of the scalp, created by
transcutaneous pins, sometimes causes an unpleasant
appearance and can be a disadvantage.
15
Fearon
11
reported that the maxilla remained stable
after LeFort III halo distraction without relapse, and no
anterior growth was observed up to 5 years postopera-
tively. Therefore, most patients will probably avoid
another LeFort III advancement. Bu et al
16
reported
Fig 12. Retention photographs.
Park et al 269
American Journal of Orthodontics and Dentofacial Orthopedics February 2011 Vol 139 Issue 2
that the mandible was not affected by the LeFort III
osteotomy and continued to grow after distraction.
Superimposition of the patients cephalograms shows
good stability of the maxilla after distraction. The man-
dible also continued to grow throughout orthodontic
treatment. There was no clockwise rotation of the man-
dible after distraction. The correction of overjet was
achieved mostly by skeletal movement of the midface,
since the inclination of the maxillary incisors did not
change throughout the distraction osteogenesis.
CONCLUSIONS
This case report demonstrates that a patient with se-
vere midfacial hypoplasia, caused by Pfeiffers syndrome,
can be successfully treated with midfacial distraction
osteogenesis and comprehensive orthodontics.
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Fig 13. Superimposed tracings (red, nal; blue, 2-year
postretention).
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February 2011 Vol 139 Issue 2 American Journal of Orthodontics and Dentofacial Orthopedics