CASE REPORT

Patient with Pfeiffers syndrome treated by midfacial distraction and comprehensive orthodontics
YongJong Park,a Paul C. Hobar,b Douglas P. Sinn,c and Supakit Peanchitlertkajornd 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. (Am J Orthod Dentofacial Orthop 2011;139:260-70)

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 syndrome, and other craniofacial synostoses. General dental characteristics are maxillary hypoplasia, Class III malocclusion, anterior and posterior crossbites, anterior open bite, and severe crowding of the maxillary arch due to hypoplasia. However, Alvarez et al2 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 to psychosocial well-being in children and young adolescents. Children with craniofacial anomalies are reported to have fewer
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 products 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

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 to correct 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 hypoplasia, 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 intracranial 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 surgicalorthodontic plan was developed to address these problems. The facial examination showed a severely concave prole, decreased lower facial height, and decient incisal display on full smile. Dentally, she was in the late mixed dentition. She exhibited Class III molar and canine

260

Park et al

261

Fig 1. Characteristic features of Pfeiffers syndrome.

neurologic complications. Patients with type III are similar to type II except for the cloverleaf skull.
TREATMENT OBJECTIVES

Fig 2. Facial change after hypertelorism correction.

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 broblast 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 fusion of 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

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 wellbalanced 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 interdigitation 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 advancement 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 preparation, followed by LeFort III distraction, and would

American Journal of Orthodontics and Dentofacial Orthopedics

February 2011  Vol 139  Issue 2

262

Park et al

Fig 3. Pretreatment photographs and x-rays.

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 complaint of psychosocial problems related to her midfacial

hypoplasia. The plan aimed to resolve her severe midfacial retrusion as early as possible to improve her psychosocial well-being. The comprehensive orthodontic treatment would then correct any residual malocclusion and maximize her dental esthetics. The orthodontic plan

February 2011  Vol 139  Issue 2

American Journal of Orthodontics and Dentofacial Orthopedics

Park et al

263

Fig 4. Pretreatment dental casts.

Table. Cephalometric analysis

Pretreatement Norm Skeletal measurements N-A-Pg A-B k OP (mm) SNA SNB ANB OP-HP PP-HP MP-HP Y-axis (SGn-FH) UFH (N-ANS/[N-ANS1ANS-Me]) (%) LFH (ANS-Me/[N-ANS1ANS-Me]) (%) Ba-S-N Dental measurements 1/ (HP) /1 (HP) 1/-(UL) (mm) 1/1 /1 (MP) /1 (A-Pg) (mm) /1 (N-Pg) (mm) Soft-tissue measurements Facial convexity (G-Sn-Po) UL protrusion (UL-SnPg) (mm) LL protrusion (LL-SnPg) (mm) Upper lip to E-plane (mm) Lower lip to E-plane (mm) 5.5 0.5 82 80 2 9 0.5 25 60 43 57 130 110 60 2.5 130 90 2.5 3.5 13.5 3.5 2.8 3 2.5 Value 22.6 2.1 69.1 79.9 10.8 8.1 3.7 20.5 57.2 43.5 56.5 122.4 112.5 68.4 0.4 135.9 91.1 8.7 1.6 8.2 2.5 4.6 6.4 1.1 SD 4.5 2 3 4 1.5 2.5 3 5 3 100 100 100 6.5 4.5 1 8 5 2 2.5 5.5 1.8 1.7 2 2.5 Postdistraction Value 0.9 4.2 79.5 78.2 1.3 0 6.5 20.5 55.5 45.6 54.4 120.8 116.3 69 0.6 132.7 90.5 0.6 0.3 16.2 4.8 1.5 2.3 3.2 SD 4.5 2 3 4 1.5 2.5 3 5 3 100 100 100 6.5 4.5 1 8 5 2 2.5 5.5 1.8 1.7 2 2.5 Value 7 3.4 79.7 81.5 1.8 3.9 7.1 18.7 55.9 45.5 54.5 116.6 118.3 70.9 0.5 132.6 90.4 3.1 0.8 8.5 5.3 2.1 5.2 4.3 Final SD 4.5 2 3 4 1.5 2.5 3 5 3 100 100 100 6.5 4.5 1 8 5 2 2.5 5.5 1.8 1.7 2 2.5

American Journal of Orthodontics and Dentofacial Orthopedics

February 2011  Vol 139  Issue 2

264

Park et al

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

Fig 5. Placement of the halo distractor.

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 distraction device (rigid external distraction device) was fabricated. It was then banded to the maxillary rst molars 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 favorable 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

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. Superimposition of the predistraction and postdistraction cephalograms 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 outgoing. The treatment took 49 months for both distraction osteogenesis and orthodontics. After 2 years of retention, the occlusion is stable, and good facial esthetics have been maintained. Cephalometric superimpositions 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 Crouzons disease, Aperts syndrome, and Pfeiffers syndrome

February 2011  Vol 139  Issue 2

American Journal of Orthodontics and Dentofacial Orthopedics

Park et al

265

Fig 6. Postdistraction photographs and cephalogram.

requires an interdisciplinary approach from both 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 neurosurgeon, 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

American Journal of Orthodontics and Dentofacial Orthopedics

February 2011  Vol 139  Issue 2

266

Park et al

Fig 7. Postdistraction dental casts.

Fig 8. Superimposed tracings (black, initial; blue, postdistraction).

February 2011  Vol 139  Issue 2

American Journal of Orthodontics and Dentofacial Orthopedics

Park et al

267

Fig 9. Posttreatment photographs and x-rays.

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.

American Journal of Orthodontics and Dentofacial Orthopedics

February 2011  Vol 139  Issue 2

268

Park et al

Fig 10. Posttreatment dental casts.

Fig 11. Superimposed tracings (black, initial; red, posttreatment).

February 2011  Vol 139  Issue 2

American Journal of Orthodontics and Dentofacial Orthopedics

Park et al

269

Fig 12. Retention photographs.

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, additional wires attaching from the nasal bone or the zygomatic 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, orbital, 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 distractors. Internal devices are less conspicuous and more accepted by patients than external devices. However, the distraction vector cannot be adjusted during activation, 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 Fearon11 reported that the maxilla remained stable after LeFort III halo distraction without relapse, and no anterior growth was observed up to 5 years postoperatively. Therefore, most patients will probably avoid another LeFort III advancement. Bu et al16 reported

American Journal of Orthodontics and Dentofacial Orthopedics

February 2011  Vol 139  Issue 2

270

Park et al

CONCLUSIONS

This case report demonstrates that a patient with severe midfacial hypoplasia, caused by Pfeiffers syndrome, can be successfully treated with midfacial distraction osteogenesis and comprehensive orthodontics.
REFERENCES 1. Moore MH, Cantrell SB, Trott JA, David DJ. Pfeiffer syndrome: a clinical review. Cleft Palate Craniofac J 1995;32:62-70. 2. Alvarez MP, Crespi PV, Shanske AL. Natal molars in Pfeiffer syndrome type 3: a case report. J Clin Pediatr Dent 1993;18:21-4. 3. Vogels A, Fryns JP. Pfeiffer syndrome. Orphanet J Rare Dis 2006;1:19. 4. Kapp-Simon KA, Simon DJ, Kristovich S. Self-perception, social skills, adjustment, and inhibition in young adolescents with craniofacial anomalies. Cleft Palate Craniofac J 1992;29:352-6. 5. Kapp-Simon KA, McGuire DE. Observed social interaction patterns in adolescents with and without craniofacial conditions. Cleft Palate Craniofac J 1997;34:380-4. 6. Pope AW, Ward J. Self-perceived facial appearance and psychosocial adjustment in preadolescents with craniofacial anomalies. Cleft Palate Craniofac J 1997;34:396-401. 7. Pertschuk MJ, Whitaker LA. Social and psychological effects of craniofacial deformity and surgical reconstruction. Clin Plast Surg 1982;9:297-306. 8. Van Sickels JE. Distraction osteogenesis versus orthognathic surgery. Am J Orthod Dentofacial Orthop 2000;118:482-4. 9. Lo LJ, Chen YR. Airway obstruction in severe syndromic craniosynostosis. Ann Plast Surg 1999;43:258-64. 10. Perkins JA, Sie KC, Milczuk H, Richardson MA. Airway management in children with craniofacial anomalies. Cleft Palate Craniofac J 1997;34:135-40. 11. Fearon JA. Halo distraction of the Le Fort III in syndromic craniosynostosis: a long-term assessment. Plast Reconstr Surg 2005;115: 1524-36. 12. Figueroa AA, Polley JW. Management of severe cleft maxillary deciency with distraction osteogenesis: procedure and results. Am J Orthod Dentofacial Orthop 1999;115:1-12. 13. Iannetti G, Fadda T, Agrillo A, Poladas G, Filiaci F. LeFort III advancement with and without osteogenesis distraction. J Craniofac Surg 2006;17:536-43. 14. Fearon JA. The Le Fort III osteotomy: to distract or not to distract? Plast Reconstr Surg 2001;107:1091-103. 15. William H, Bell CAG. Distraction osteogenesis of the facial skeleton. Hamilton, Ontario, Canada: BC Decker; 2007. 16. Bu BH, Kaban LB, Vargervik K. Effect of Le Fort III osteotomy on mandibular growth in patients with Crouzon and Apert syndromes. J Oral Maxillofac Surg 1989;47:666-71.

Fig 13. Superimposed tracings (red, nal; blue, 2-year postretention).

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 mandible also continued to grow throughout orthodontic treatment. There was no clockwise rotation of the mandible 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.

February 2011  Vol 139  Issue 2

American Journal of Orthodontics and Dentofacial Orthopedics