STATE OF THE ART

Treacher Collins Syndrome: Current Evaluation, Treatment, and Future Directions

JEFFREY C. POSNICK, D.M.D., M.D., F.R.C.S.(C), F.A.C.S. RAMON L. RUIZ, D.M.D., M.D.
Objective: Treacher Collins syndrome (TCS) is an inherited disorder in which there are bilateral symmetric anomalies of the structures within the rst and second branchial arches. In general, there is complete penetrance and variable expressivity of the trait. The craniofacial rehabilitation of a child with TCS is tailored to the extent of the deformities involved: the orbitozygomatic region, the maxillomandibular region, the nose, facial soft tissues, and external and middle ear structures. Conclusion: This article reviews the range of clinical features and specic dysmorphology observed in TCS. Functional and aesthetic objectives are discussed, and a comprehensive staged reconstructive approach is outlined, which may be used as a roadmap for treatment planning.
KEY WORDS: craniofacial surgery, dysmorphology, reconstruction, syndrome, Treacher Collins

Treacher Collins syndrome (TCS) is an autosomal dominant condition with variable expressivity (Treacher Collins, 1900; Franceschetti and Klein, 1949; Rogers, 1964; Dahl et al., 1975; Poswillo, 1975; Behrents et al., 1977; Tessier and Tulasne, 1985; Marsh et al., 1986; Tulasne and Tessier, 1986; Grandstrom and Kullaa-Mikkonen, 1990; Munro et al., 1990; Jabs et al., 1991, 1993; Kreiborg and Dahl, 1993; Fig. 1). It is generally characterized by bilaterally symmetrical abnormalities of structures within the rst and second branchial arches. Early descriptions are attributed to Berry (1889), Treacher Collins (1900), and Franceschetti and Klein (1949). The physical ndings in 300 to 400 patients with TCS have been published in the world literature (Rogers, 1964). The adult patient with fully expressed TCS has a convex facial prole with a prominent dorsum of the nose above and a retrusive lower jaw and chin (Fig. 2). The eyes are characterized by an antimongoloid slant of the palpebral ssure resulting from colobomata and hypoplasia of the lower lids and lateral canthi, including partial absence of eyelid cilia. The external ears are absent, malformed, or malposed, and hearing is impaired as a result of variable degrees of hypoplasia of the external auditory canals and ossicles of the middle ears. Cleft

palate, with or without cleft lip and choanal atresia, is present variably. The most characteristic nding is hypoplasia of the malar bones, often with clefting through the arches and limited formation of the residual zygomatic complex. The lateral aspects of the orbits are hypoplastic with a resulting inferiorlateral orbital dysplasia (Fig. 2). The maxilla and mandible are also characteristically hypoplastic, with variable effects on the temporomandibular joints (TMJs) and the muscles of mastication. There is an Angle class II anterior open bite malocclusion and a steep (clockwise-rotated) occlusal plane. Patients with TCS have a reduced cranial base angle (basilar kyphosis; Figueroa et al., 1993). Craniosynostosis is not a feature of TCS, but the neurocranium may have an abnormal shapedecreased anterior-posterior length and diminished bitemporal widththat is evident during childhood and remains through adulthood (Pron et al., 1993). The degree of malformation present at birth is believed to be relatively stable and nonprogressive with age (Roberts et al., 1975). INHERITANCE, GENETIC MARKERS,
AND

TESTING

Dr. Posnick is Director Posnick Center for Facial Plastic Surgery and Clinical Professor, Department of (Plastic) Surgery, Pediatrics, Otolaryngology/Head and Neck Surgery, and Oral and Maxillofacial Surgery, Georgetown University, Washington, D.C. Dr. Ruiz is a Fellow, Pediatric Craniofacial Surgery, Posnick Center for Facial Plastic Surgery, Chevy Case, Maryland, and Instructor, Oral and Maxillofacial Surgery, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina. Reprint requests: Dr. Jeffrey C. Posnick, Posnick Center for Facial Plastic Surgery, 5530 Wisconsin Ave., Suite 1250, Chevy Chase, Maryland 20815. jposnick@drposnick.com. Webpage: www.drposnick.com. 483-1

The occurrence of TCS is in the range of 1 in 25,000 to 1 in 50,000 live births (Gorlin et al., 1990). Inheritance is autosomal dominant: males and females are equally affected; inheritance may be from one parent; multiple generations are affected; and when an affected person mates with an unaffected one, each offspring has a 50% chance of inheriting the condition. The gene for TCS was mapped to chromosome 5q31.3q33.3 (Jabs et al., 1991). Application of geneticlinkage and haplotype analysisand physical mappinguorescent in situ hybridization, cosmid, and YAC contiguous construction techniques suggest that the TCS gene resides between the col-

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FIGURE 1 This mother and daughter show the extent of variation of Treacher Collins syndrome (TCS) within a family. The mother (A) was not aware that she carried the TCS gene until after the birth of her daughter (B). Reprinted with permission from Posnick JC. TCS: perspectives in evaluation and treatment J Oral Maxillofac Surg. 1997;55:1120).

ony-stimulating factor receptor gene and the osteorectin gene, a region of less than 1 million base pairs of DNA on chromosome 5 (Jabs et al., 1993). A large number of TCS families have been analyzed. Diagnosis can be performed indirectly by linkage analysis in a family with more than one affected member, with greater than 95% accuracy if relevant DNA markers are informative within the family. A postnatal diagnosis requires a blood sample for DNA isolation from an affected individual and members of his or her family. A prenatal diagnosis requires a blood sample from family members and a specimen for culture and DNA isolation from an amniocentesis or chorionic villous sampling procedure, performed at 16 to 17 weeks or 10 to 11 weeks, respectively. DYSMORPHOLOGY Cranio-orbitozygomatic Region Posnick and colleagues performed 14 reproducible cranioorbitozygomatic measurements taken from each of 26 standard axial computed tomography (CT) scans of unoperated individ-

uals with symmetric forms of TCS and compared them with age-matched controls (Waitzman et al., 1992a, 1992b; Posnick et al., 1995). The intraorbital measurements (medial and lateral orbital wall separations) of the TCS patients were at the mean when compared with their cohort group, whereas the zygomatic measurements were signicantly less than normal, conrming the extent of malar hypoplasia. The congenitally decient lateral aspect of the orbits in TCS patients was conrmed by the greater than normal values measured for globe protrusion and medial orbital wall protrusion in conjunction with diminished lateral orbital wall lengths, all of which use the lateral orbital rim as a reference point. The abnormal shape of the anterior cranial vault in patients with TCS was documented as a diminished intercoronal (bitemporal) distance (width) and decreased cephalic length when compared with normal age-matched controls. In general, the CT measurements referred to above agree with the clinically observed morphology of TCS (Kolar et al., 1985). The measurements of the zygomatic structures conrm the extent of hypoplasia of the zygomas for the group as a whole and in each individual patient. They also document the

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FIGURE 2 An adult with fully expressed Treacher Collins syndrome. His eyes are characterized by an antimongoloid slant of the palpebral ssure resulting from colobomata and hypoplasia of the lower lids and lateral canthi, including partial absence of the eyelid cilia and inferolateral orbital dystopia. The malpositioned adnexal structures are a reection of both orbital dystopia and hypoplasia of the soft tissue structures. A: Frontal view. B: Frontal view of craniofacial computed tomography scan with three-dimensional reconstruction (A is reprinted with permission from Posnick JC. TCS: perspectives in evaluation and treatment. J Oral Maxillofac Surg. 1997;55:11201133).

extent of globe protrusion and decreased upper face width in patients with TCS. Maxillomandibular Region Roberts et al. (1975) completed a radiographic cephalometric study of TCS. Serial cephalometric radiographs were available in eight patients who presented with the full range of features characteristic of this syndrome. The expected facial convexity in TCS was substantiated by cephalometric measurements. The extent of convexity was attributed to the severity of mandibular retrognathia (decreased SNB angle) because the relationship of the maxilla to the cranial base (SNA angle) remained within normal limits in the patients measured. On a longitudinal basis, the facial convexity remained relatively constant, conrming that the facial prole of the infant with TCS was remarkably similar to that of the adult. Anterior facial heights were measured as upper facial height (NANS) and total facial height (N-Mn). The N-ANS was found to be relatively normal, but the N-Mn was often exces-

sive and thought to be attributable to a combination of anterior open bite malocclusion, mandibular retrognathism, and chin dysplasia characterized by increased vertical length and horizontal retrusion. The angle between the S-N plane and the palatal plane was obtuse, conrming the steepness (clockwise rotation) of the occlusal plane. The posterior facial height was markedly shorter for TCS patients, with ve or eight patients found to be a minimum of 4 SD below that of the normal cohort group. The effective horizontal length of the mandible was markedly reduced, with six of the eight patients falling below four SD when compared with the normal cohort group. The decreased mandible size was evident in both the ramus height and body length. The gonial angle was conrmed to be obtuse, with values of 2 SD from the mean when compared with control values. The extent of antegonial notching also was documented in the TCS patient and found to be similar to that observed in patients with condylar arrest early in life as observed in juvenile rheumatoid arthritis or those affected by TMJ trauma at a young age.

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Soft Tissues The soft tissue deciencies and deformities in the TCS individual are primarily in four regions: the external ears, the eyelid-adnexal structures, preauricular-cheek skin, and the temporal fossa (Berry, 1889; Treacher Collins, 1900; Bregeat, 1985; Kolar et al., 1985; Farkas and Posnick, 1989; PetersonFalzone and Figueroa, 1989; Marres et al., 1995a). The extent of the soft tissue deciency within the facial soft tissue envelope is variable and to a certain extent reective of the skeletal involvement (Marsh et al., 1986). When discussing the soft tissue deformities in TCS, a key consideration is that each patient is unique and must be evaluated individually. Middle and Inner Ear Structures and Audiologic Findings Relatively symmetric outer and middle ear malformations are characteristic of patients with TCS. Middle ear abnormalities (i.e., hypoplastic or absent cavities and ossicles) are an almost universal nding (Herberts, 1962; Fernandez and Ronis, 1964; Maran, 1964; Hutchinson et al., 1977; Caldarelli et al., 1980; Jahrsdoerfer et al., 1989; Marres et al., 1995a, 1995b). Most patients have a unilateral or bilateral, moderate, or greater conductive hearing loss, with a at or reverse sloping conguration to their audiogram. Most of the hearing loss in these patients is attributable to their malformed middle ears. Pron et al. (1993) reported the results of a large series of pediatric patients with TCS. The objectives of their study were rst to determine the degree and symmetry of the external auditory canal and middle ear abnormalities and hearing loss and second to explore the relationship between hearing loss and external auditory canal and middle ear abnormalities. Data were available from 29 children who had not yet undergone any ear interventions and who had undergone audiometric testing and focused standardized petrous (temporal) bone CT scans. A review of the CT scans allowed for evaluation of the external ear canal and middle ear anatomy. Most patients had largely symmetric (88%) external auditory canal abnormalities that were stenotic (31%), atretic (54%), or normal (15%). Middle ear cavity ossicular deformities were generally symmetric (96%) and hypoplastic (85%). Four percent were missing. Cavities that were hypoplastic were also deformed, assuming a rectangular rather than an oval shape. Ossicle deformities were generally completely symmetrical and largely hypoplastic (46%). Forty-six percent were missing. Ossicles that were hypoplastic also tended to be ankylosed (82%) to either the lateral or the medial wall of the tympanic recess. The morphology of the external auditory canal and middle ear was generally related. Increasing degrees of external ear canal malformation (normal-stenotic-atretic) were directly associated with ossicle and cavity malformations. Of the atretic canals, 67% had missing ossicles and 33% had small or ankylosed ossicles. No abnormalities were noted in the inner ear structures (i.e., cochlea, vestibule, canals, and internal auditory meatus) in the TCS patients studied.

According to Pron et al. (1993), hearing loss (HL) for the TCS patient ranges from mild to moderate (average, 58 dB HL). Most patients (96%) have a moderate or greater degree of hearing loss. Relationships exist between external auditory canal and middle ear morphology and the degree and conguration of hearing loss. Although there is an overall direct association between increasing external ear canal malformation and degree of hearing loss in the TCS patient, hypoplastic, ankylosed, and missing ossicles appear to be associated with increasing, although not clinically signicant, levels of hearing loss: on average 52, 56, and 60 dB, respectively. EVOLUTION
OF

DEFORMITY WITH FACIAL GROWTH

The degree of malformation present at the time of birth in a newborn with TCS is believed to be relatively stable and nonprogressive with age (Figs. 3 and 4). Roberts and colleagues (1975) reviewed serial cephalometric radiographs of TCS patients and documented the stability of the inferior border of the mandible over time. Garner (1967) reported his ndings of the cephalometric analysis of three patients of varied ages conrmed to have TCS. He documented the relative stability of the deformities observed at the various ages. No convincing evidence has been presented conrming a clinically signicant worsening of the TCS dysmorphology with facial growth. CONSIDERATIONS DURING INFANCY INTO EARLY CHILDHOOD At the time of the birth of a child with TCS, concerns will center on the adequacy of the airway; swallowing and feeding; hearing; vision; the presence of cleft palate with or without cleft lip; and any associated malformations. The airway may be compromised as a result of two factors (Posnick, 1997a, 1997b). The rst is maxillary hypoplasia, which tends to constrict the nasal passages and result in a degree of choanal stenosis or atresia. In addition, the presence of mandibular micrognathia and a retropositioned tongue will obstruct the oropharyngeal and hypopharyngeal spaces. Depending on the severity of the deformities, a spectrum of airway difculties may occur and require special infant positioning and an extended hospital stay with pulse oximeter monitoring (Rasch et al., 1986; Argenta and Iacobucci, 1989; Ebata et al., 1991; Kovacs, 1992; Mukhopadhyay et al., 1992; Moore et al., 1994; Walker et al., 1994). A small percentage of TCS infants will present with lifethreatening respiratory distress resulting from their congenitally small mandible. Unless the lower jaw can be surgically lengthened with improved anterior positioning of the tongue and oor of the mouth structures, the child will not be able to maintain adequate oxygenation, leaving tracheostomy as the only alternative. There are other patients in whom a tracheostomy has already been carried out, with an expected need for it to remain at least several years until their lower jaw grows to the extent that decannulation is possible. For this

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FIGURE 3 An infant with a severe form of Treacher Collins syndrome shown at (A) 2 months and (B) 2 years of age without treatment intervention. There has been no progression of the deformity, and longitudinal computed tomography scans at 2 months (C) and 2 years (D) show growth of the condyle, coronoid process, and ascending ramus of the mandible (from Posnick JC. TCS: perspectives in evaluation and treatment. J Oral Maxillofac Surg. 1997;55:11201133).

unfortunate group of patients, a rst-stage mandibular reconstruction may be a justied option for a family to select. At the present time, a popular approach to lengthen the lower jaw is by using the Ilizarov technique (Diner et al., 1997; Roth et al., 1997; Cohen et al., 1998; Hollier et al., 1999). With current technology, this represents a relatively crude and labor intensive method of lengthening the mandible. It has its own set of complications and shortcomings, but with patient and family cooperation and surgical persis-

tence, early decannulation of the tracheostomy dependent patient is often a realistic objective. Before embarking on a mandibular procedure in childhood, a meticulous and thorough evaluation of the entire airway (lungs, larynx, and nasal and oral cavities) is essential. If the objective is to avoid or remove a tracheostomy, this is important because many of the affected children will have a multifocal breathing problem. If a more complex airway problem goes unrecognized and a mandibular lengthening procedure

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FIGURE 4 A child born with Treacher Collins syndrome followed up longitudinally without treatment intervention. No progression of the deformity has occurred with growth. Mouth breathing due to nasal obstruction results in vertical maxillary excess. A: Frontal view at 10 months of age. B: Frontal view at 4 years of age. C: Prole view at 2 months of age. D: Prole view at 4 years of age. E: Occlusal view in primary dentition. F: Three-dimensional computed tomography scan views of craniofacial region without treatment intervention (Type IIB mandibular deformity). (Reprinted with permission from Posnick JC. TCS: evaluation and treatment. In: Posnick JC. Craniofacial and Maxillofacial Surgery in Children and Young Adults. Philadelphia: W.B. Saunders; 2000:391418).

is carried out in isolation, the hoped-for benet of airway independence may go unrealized. It must also be realized that to achieve maximum long-term improvements in facial aesthetics, a mandibular lengthening procedure carried out early in life will not avoid the need for either maxillary and chin

surgery or further mandibular reconstruction planned closer to the time of skeletal maturity. The extent of musculoskeletal malformations in TCS may also result in difculty with effective swallowing of liquids and the attainment of adequate nutrition. For these children

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FIGURE 5 Kaban et al. (1980) designed a classication system to dene the degree of temperomandibular joint deciency observed in hemifacial microsomia. The same classication system is used for Treacher Collins syndrome. Three-dimensional craniofacial computed tomography scans demonstrate the classication system. A: Type I mandibular deformity. B: Type IIA mandibular deformity. C: Type IIB mandibular deformity. D: Type III mandibular deformity (Reprinted with permission from Posnick JC. TCS: evaluation and treatment. In: Posnick JC. Craniofacial and Maxillofacial Surgery in Children and Young Adults. Philadelphia: W.B. Saunders; 2000:399).

gavage-assisted feedings or, in the extreme, the placement of a gastrostomy tube to ensure adequate caloric intake and hydration may be required. When a cleft palate is documented in the TCS patient, special attention must be given to the timing of closure and its additive effects on the airway. When Nager syndrome is present, the soft palate is not only clefted but severely hypoplastic to the extent that inadequate soft tissue is available to achieve a functioning palate (Nager and deRaynier, 1948; Jackson et al., 1989; Fig. 4). A primary pharyngeal ap, although helpful for velopharyngeal function, will rarely be indicated because marked obstruction of the airway would likely occur. Soon after birth, examination by an experienced pediatric otolaryngologist, in combination with formal audiologic testing, will give an indication of the extent of conductive hearing loss and allow for the early tting of hearing aids to assist the infant with the acquisition of communication skills and encourage the normal bonding process with the family. At some point during the rst 6 months of life, a full craniofacial CT scan (axial and coronal slices) from the top of the skull through the cervical spine, with three-dimensional

reformation, will be useful to document the extent of craniofacial skeletal dysmorphology. Special, focused cuts through the petrous temporal bones are also required to document external auditory canal and middle and inner ear anatomy (Herberts, 1962; Hutchinson et al., 1977; Jahrsdoerfer et al., 1989). A pediatric neuro-ophthalmologic assessment is useful to assess extraocular muscle function, corneal exposure, and visual acuity (Berry, 1889). Evaluation by a medical geneticist is indicated for documenting other possible malformations and for family-planning issues (Roberts et al., 1975). In addition, we have found that family-to-family support is of great psychological value. It has been the subjective impression of many clinicians that the TCS patient has a tendency toward short stature and a thin body type, at least early in life, and that average or aboveaverage intelligence is generally observed. CLASSIFICATION
OF

TMJ-MANDIBULAR DEFICIENCY

The extent of TMJ-mandibular deciency will greatly inuence the timing and techniques of mandibular reconstruction.

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Imprecise denitions for each type of mandibular deciency have prevented the consistent categorization of the glenoid fossa/TMJ/ascending ramus malformation and resulted in much confusion and miscommunication. Kaban and colleagues (1980) designed a classication system to dene the degree of TMJ-mandibular deciency observed in hemifacial microsomia. This classication is also useful for dening the mandibular morphology in the TCS patient. We have attempted to further clarify the Kaban classication (Fig. 5). A Type I mandible has minimal hypoplasia of the glenoid fossa and the condyle-ascending ramus. There is mandibular rethrognathia and a mild anterior open bite, but TMJ function is normal. A Type IIA mandible has a moderate degree of glenoid fossa and condyle-ascending ramus hypoplasia, but there remains good TMJ function. The location of the TMJ is somewhat anterior and medially located. The Type IIB mandible has moderate to severe hypoplasia of both the glenoid fossa and the condyle-ascending ramus. The TMJ-ascending ramus complex is anteriorly and medially located, but there is a posterior stop to the mandible, with a condyle that is seated in a hypoplastic glenoid fossa. The TMJ functions with an acceptable degree of rotation of each condyle within the fossa. There is severe mandibular retrognathia and anterior open bite. The Type III mandible is free oating, with no posterior stop of the lower jaw against the cranial base. The condyle and ascending ramus are not present; the disk, TMJ capsule, and glenoid fossa are not developed. There is severe mandibular dysmorphology, including (horizontal) retrognathia and decreased posterior facial (ramus) height. A tracheostomy is generally required shortly after birth to manage the airway and a gastrostomy for feeding. STAGING
OF

and cranial vault graft donor sites are repaired with xed splitthickness autogenous cranial bone. Another option for repair of the full-thickness posterior cranial vault donor site defects is with the use of a hydroxyapetite bone cement (BoneSource). Lateral canthopexies are completed through the coronal incision and secured to the inside of the new lateral orbital rims. In the study by Posnick et al. (1993), CT scans obtained before and immediately after surgery demonstrated signicant increases in lateral orbital wall length, lateral orbital rim distance (width), interzygomatic arch distance (width), and zygomatic arch length for the TCS patient. The late (1 year or more) postoperative scans documented that these changes were maintained. In their study group, no complications occurred during surgery, and repaired skull donor sites healed without a clinical defect. Zygomatic and orbital morphologic improvement was achieved in all patients, with follow-up ranging from 24 to 50 months (mean, 35 months) at the close of the study. Posnick et al. (1993, 2000) believe that reconstructing the malar and orbital deciencies before 5 years of age is not indicated unless uncontrolled corneal exposure problems occur and are thought to be the result of the skeletal deformity. By 5 to 7 years of age, the cranio-orbitozygomatic bony development is nearly complete (Waitzman et al., 1992b). Therefore, adult-sized cheekbones may be constructed and placed with limited concern about how further growth will alter the initial result achieved (Fig. 6). Other surgeons have recommended varied methods and timing for correction of the zygomatic and orbital deformities associated with TCS (Van der Meulen et al., 1984; Tessier and Tulasne, 1985, 1989; Fuente del Campo et al., 1994; Hurwitz, 1994; Zanini et al., 1994). Maxillomandibular Reconstruction The rst consideration in the timing and technique of jaw reconstruction is to dene whether the TMJ-mandibular deformity is a Kaban Type I, IIA, IIB, or III (Fig. 5). The Type I, IIA, and IIB mandibular deformities do not benet from TMJ construction. In these patients, adequate TMJ function and condyle/ascending ramus form is present to allow for mandibular reconstruction through ramus osteotomies, with preservation of the working TMJ. The basic dysmorphology of the maxillomandibular complex that requires reconstruction is the altered facial heights increased anterior lower facial height and decreased posterior facial height; the horizontal mandibular deciency; and the chin dysplasiaincreased vertical length and horizontal retrusion (Herring et al., 1979; Kreiborg, 1986). These malformations result in an excessive clockwise rotation of the occlusal plane and an Angle class II anterior open-bite malocclusion, both of which must be corrected to restore facial balance (Herring et al., 1979; Kreiborg, 1986; Posnick, 1993, 2000; Zanini et al., 1994). It has been our clinical impression that the most favorable aesthetic results will be achieved in those patients who undergo their reconstructive jaw surgery at the time of early skeletal maturity (on average, at age 13 to 15 years in girls and 15 to

CRANIOFACIAL RECONSTRUCTION TIMING AND TECHNIQUES

The craniofacial rehabilitation of a child with the Treacher Collins malformation must address unique and specic components of the individuals deformity, including the zygomatic and orbital region, maxillomandibular region, nasal region, the soft tissues, external ears, and auditory canals and middle ear structures (Posnick, 1997a, 1997b, 2000). Zygomatic and Orbital Reconstruction Posnick et al. (1993) have documented the efcacy of reconstructing the malar and orbital deciencies for moderate to severe forms of TCS using full-thickness autogenous calvarial bone grafts contoured three-dimensionally and stabilized with microplate and screw xation to form a new zygomatic complex and to reconstruct the dysmorphic orbits. Exposure for reconstruction is provided by a coronal (scalp) incision without the need for periorbital incisions (Figs. 6 and 7). It is important to consider the eventual external ear reconstruction when selecting the location of the scalp incisions. Orbital oor defects

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16 in boys) and when performed in combination with effective orthodontic treatment (Posnick, 1993, 2000; Figs. 8 through 11). Mandibular and possibly maxillary rst premolar extractions may be advantageous to orthodontically unravel dental crowding and normalize the inclination of the incisor teeth in preparation for the aesthetic repositioning of the jaws to restore the occlusion, facial heights, and projection. Types I and IIA mandibular deformities are best reconstructed at the time of early skeletal maturity (13 to 16 years of age) using sagittal ramus osteotomies of the mandible in combination with a Le Fort I osteotomy and an osteoplastic genioplasty. Type IIB deformities may be severe enough that the family, once fully informed and educated, decide to go forward with rst-stage mandibular reconstruction either through intraoral sagittal ramus osteotomies with immediate repositioning or with ramus osteotomies and gradual distraction techniques over several month (Diner et al., 1997; Roth et al., 1997; Cohen et al., 1998; Hollier et al., 1999). When a rststage mandibular procedure is performed in the mixed dentition for the Type IIB patient, the need for additional mandibular osteotomies, in conjunction with a Le Fort I osteotomy and an osteoplastic genioplasty, should be anticipated at the time of skeletal maturity. The Type III glenoid fossa and condyle-ascending ramus deformity will require surgical construction of the congenitally missing parts. Osteotomies alone, with either immediate or delayed repositioning of the mandibular segments, will not be adequate. Construction of the glenoid fossa is best performed in conjunction with the zygomatic and orbital reconstruction. For the Type III deformity, rst-stage mandibular reconstruction with a costochondral graft remains the best alternative. At operation, the distal mandible is repositioned anteriorly and held in place through a prefabricated, interocclusal acrylic splint securing the mandible to the maxilla in the preferred occlusion. The proximal mandible on each side is then constructed with an autogenous costochondral graft. Fixation of the rib graft to the native (distal) mandible is done with an extended miniplate from the graft forward along the inferior border of the body of the mandible on each side. Graft placement and xation are performed through an extraoral (Risdon) neck incision. The avoidance of intraoral incisions and dissections during this procedure is important to minimize the incidence of infection, with subsequent graft loss or TMJ ankylosis. First-stage mandibular reconstruction for the Type III deformity is generally performed when the child is 6 to 10 years of age. Unfortunately, this will not resolve the mandibular deformity long term. Problems with costochondral graft overgrowth, undergrowth, and asymmetrical growth continue to plague the reconstructive surgeon (Ellis and Carlson, 1986; Daniels et al., 1987; Henning et al., 1992). Final orthognathic surgery of the upper jaw, lower jaw, and chin will later be required at the time of early skeletal maturity. The rationale for postponing correction of the orthognathic deformity until the time of early skeletal maturity is the same as that for orthognathic deformities in other syndromal, cleft lip and palate, or more standard orthognathic patients. The

reasons mandibular surgery in the mixed detention is generally not performed are to avoid injury to the developing permanent detention and the inferior alveolar nerves; to avoid soft tissue and skeletal scarring that may limit the nal overall functional and aesthetic result achievable at the time of skeletal maturity; to avoid the perioperative complications associated with an additional general anesthetic and surgical procedure; to limit postoperative cooperation difculties and negative psychological memories that may occur when this procedure is performed in childhood; and to avoid iatrogenic deformation of the mandible that could add to the overall mandibular dysmorphology. In addition, safe and nal reconstruction of the upper jaw and chin will not be possible because of the position of developing teeth and the potential of inducing growth restrictions. The orthodontic alignment of the teeth in the mixed dentition would be incomplete, and the ideal long-term surgical placement of the lower jaw is unpredictable. Le Fort I osteotomy in segments will be required in most affected individuals to correct vertical, horizontal, and transverse maxillary deformities (Figs. 8 through 11). The occlusal plane invariably benets from counterclockwise rotation. Intrusion of the anterior maxilla is generally needed to establish a more normal upper lip to tooth relationship with smile and in repose and to idealize incisor inclination. The posterior maxillary height may either require extrusion or remain in a neutral position, depending on the extent of counterclockwise rotation required to achieve adequate horizontal advancement of the mandible and chin (Pogonion) and to normalize the anterior and posterior facial heights. For the Type I, IIA, and IIB mandible, bilateral (intraoral) sagittal split osteotomies (BSSO) are the preferred ramus procedure because it allows for horizontal advancement and counterclockwise rotation of the mandible. Stabilization at each mandibular osteotomy site is accomplished with miniplates and screws and an interposed autogenous corticancellous (iliac) bone graft, when required. For the Type III rib graft constructed mandible, a BSSO in the ramus region is also preferred. An oblique osteotomy of the chin is performed to vertically shorten and horizontally advance the distal chin segment. Stabilization of the chin is done with microplates and screws. Rosen (1993) documented the long-term cephalometric stability of counterclockwise occlusal plane rotation when performed to enhance the facial aesthetic results in patients with mandibular micrognathia. We have not found higher-level maxillary osteotomies (i.e., Le Fort II or III), other forms of mandibular ramus osteotomies (C or inverted L), or extraoral approaches (neck incisions) to be either technically useful nor aesthetically advantageous. Nasal Reconstruction The bridge of the nose in the adult with TCS will have a mild to moderately increased width, and a middorsal hump (bone and cartilage) is always present (Farkas et al., 1989). The length of the nose is normal or long, whereas the tip is often drooped and lacks anterior projection. Most patients will benet from a rhinoplasty that includes osteotomies with in-

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FIGURE 6 Continued.

fracture, reduction of the skeletal and cartilaginous dorsal hump, removal of the cephalic portions of the lower lateral cartilages, and septal cartilage grafting (as a columella strut) to improve tip projection and denition. It is best to postpone the rhinoplasty until after the orthognathic procedures. Exposure is provided through an open (columella spitting incision) technique (Figs. 8 and 9). SOFT TISSUE RECONSTRUCTION Despite several decades of well-intended surgical attempts to improve the soft tissue deciencies of the eyelid-adnexal regions, few aesthetically pleasing soft tissue eyelid reconstructive results have been reported in patients with TCS. The transposition of pedicled upper eyelid skin-muscle aps to the lower eyelid decient regions is not technically difcult; un

fortunately, the inevitable adnexal scarring results in an operated look that generally detracts from any positive advantages of the procedure. The placement of full-thickness skin grafts to the lower eyelids is another frequently mentioned procedure. When performed in the TCS patient, it predictably leaves a patchy look and should be reserved only for patients with unresolved corneal exposure problems. The fact that the lateral canthi are inferiorly displaced is a reection of both orbital dystopia and hypoplasia of the lateral canthi and other components of the eyelid structures. Although correction of the orbital dystopia and direct lateral canthopexies are helpful, and should be performed, they will rarely normalize the complex hypoplasia of the adnexal structures. The observed temporal fossa hollowing frequently encountered in TCS is a reection of multilevel hypoplasia that includes the skin, temporoparietal fascia, temporalis muscle, and

FIGURE 6 A 6-year-old boy born with Treacher Collins syndrome is shown before and after zygomatico-orbital reconstruction carried out using the technique described in Figure 7. Frontal view in repose before (A) and after (B) surgery. Frontal view with smile before (C) and after (D) surgery. Oblique view before (E) and after (F) surgery. Worms eye view before (G) and after (H) surgery. I: Comparison of three-dimensional computed tomography (CT) scans of craniofacial region before and after reconstruction (oblique view). Comparison of three-dimensional CT scans (oblique view) before and after reconstruction (J: oblique view; K: frontal view; L: worms eye view). (A, B, G, H, J, L reprinted with permission from Posnick JC. TCS: evaluation and treatment. In: Posnick JC. Craniofacial and Maxillofacial Surgery in Children and Young Adults. Philadelphia: W.B. Saunders; 2000;391418; C, D, E, F, I, K reprinted with permission from Posnick JC. treacher collins syndrome. In Grabb and Smiths Plastic Surgery, Fifth Edition, Aston SJ, Bealey RW, Thorne CHM, Eds. Philadelphia: Lippincott-Raven, 1997).

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FIGURE 7 7 Intraoperative and computed tomography (CT) scan views demonstrating the operative technique for orbitozygomatic reconstruction in a 5year-old child with Treacher Collins syndrome. With access through a coronal (scalp) incision, the zygomatic and orbital structures are exposed; fullthickness cranial bone grafts are harvested; and each zygoma is constructed, inset, and stabilized. The orbital defects are reconstructed with cranial bone grafts, and the orbital rims are reshaped with a rotary drill. Lateral canthopexies are completed through the coronal incision and attached to the new frontozygomatic suture regions. A: View of dissected rudimentary zygomatic remnant. B: A metal template of the proposed zygomatic complex has been made. C: The template is taken to the temporoparietal region of the skull, and its outline is marked out for a craniotomy. D: Through a craniotomy, a fullthickness cranial bone graft is harvested. The exact procedure is carried out on the contralateral side. E: The two full-thickness cranial bone grafts have been crafted for bilateral zygomatic complex reconstruction. F: A demonstration of the metal templates and crafted bone grafts/zygomatic complexes. G: Additional cranial bone grafts are inset to reconstruct defects of the lateral orbital wall and roof. H: Cranial bone graft is inset to orbit. I: Full-thickness cranial bone graft is xed in place with titanium microscrews. J: The temporalis muscle has been advanced anteriorly. The lateral canthus is identied through the coronal ap and a 28-gauge stainless steel wire is passed through it. K: The lateral canthus is pexed to the new frontozygomatic region. L: Frontal and (M) worms eye view three-dimensional CT scans of bilateral zygomatic complexes before and after full-thickness cranial bone graft reconstruction (A, B, D, F reprinted with permission from Posnick JC, Goldstein JA, Waitzman A. Surgical correction of Treacher Collins malar deciency: quantitative CT scan analysis of long-term results. Plast Reconstr Surg. 1993;92:12).

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FIGURE 7 Continued.

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FIGURE 8 Continued.

decreased bitemporal width of the anterior cranial vault. It is for this reason that the congenital hypoplastic pericranial or temporoparietal aps have limited utility for adnexal region subcutaneous augmentation. When meticulously planned and executed, the transfer of soft tissue aps from other body regions, with microvascular reanastomosis, may be the alternative of choice for augmen-

tation of the adnexal, temporal, and cheek soft tissues (Siebert et al., 1996). External Ear Reconstruction Surgical reconstruction of the auricle can be satisfactorily achieved through a staged approach in the hands of a few

FIGURE 8 Patient demonstrating the typical stigmata of Treacher Collins syndrome TCS. She was referred at age 17 and underwent staged reconstruction in three phases. Initial preoperative orthodontic treatment including extraction of mandibular rst premolar teeth and retraction of the incisors to remove dental compensations. Orthognathic surgery included a Le Fort I osteotomy (counterclockwise rotation) to intrude the anterior maxilla and extrude the posterior maxilla, bilateral sagittal split osteotomies of the mandible (advancement and counterclockwise rotation), and an osteoplastic genioplasty (vertical reduction and advancement). Next she underwent cheekbone reconstruction with xed full-thickness autogenous cranial bone grafts as described in Figure 7. This was followed by a septorhinoplasty procedure (open approach) with cartilage graft in order to reduce the dorsal hump and improve nasal tip rotation and projection. A: Longitudinal full face and (B) prole views of patient without treatment intervention. C: Right prole view before surgery. D: Right prole view after reconstruction. E: Left prole view before surgery. F: Left prole view after reconstruction. G: Oblique and (H) worms eye view 3 years after reconstruction. I: Occlusal view before treatment. J: Occlusal view early after reconstruction. K: Occlusal view 3 years after reconstruction indicating a mild degree of maxillary relapse but with a stable occlusion. L: Articulated dental casts before surgery. M: Articulated dental casts after model surgery (A, B, C, D reprinted with permission from: Posnick JC. TCS: Perspectives in evaluation and treatment. J Oral Maxillofacial Surgery 55:11201133, 1997).

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FIGURE 9 Cranial grafts used in patient depicted in Figure 8, with radiographic images showing reconstruction results. A: Frontal view of crafted autogenous cranial grafts. B: Birds eye view of crafted full-thickness cranial grafts. C and D: Crafted cranial grafts inset to zygomatic defects and stabilized with microplates and screws with advancement of (hypoplastic) temporalis muscles. E: Lateral cephalometric radiograph before surgery. F: Lateral cephalometric radiograph after reconstruction. G: Consecutive axial computed tomography (CT) slices after orthognathic surgery and before malar reconstruction showing measurement of hypoplastic (a) interzygomatic buttress width, (b) interzygomatic arch width, and (c) zygomatic arch length. H: Consecutive axial CT images of patient after malar reconstruction showing measurement of (a) interzygomatic buttress width, (b) interzygomatic arch width, and (c) zygomatic arch length (A, B, G, H reprinted with permission from Posnick JC, Goldstein JA, Waitzman A. Surgical correction of Treacher Collins malar deciency: quantitative CT scan analysis of long term results Plast Reconstr Surg. 1993;92:12).

experts. The methods described by Brent (1999) represent the current standard of autogenous reconstruction. The successful grafting of a well-sculpted cartilage framework is the foundation for a sound auricle repair. According to Brent, there is adequate rib cartilage for the repair in most children by age 6. The syncondrotic region of ribs 6 and 7 will then provide an ample cartilage block to form the framework of the ear. This is taken from the side contralateral to the ear being constructed. Using the preoperatively determined measurements and a

prefabricated template, the position of the ear is determined, and a small preauricular incision is made. Unusable vestigal cartilage is excised. A thin-skinned pocket is developed, with the dissection carried beyond the marked auricular outline to recruit sufcient tension-free skin coverage. In bilateral microtia, Brent (1999) prefers that the cartilage grafts harvesting for each ear be separated by several months. Simultaneous bilateral auricular reconstruction would necessitate bilateral chest wounds, with splinting and the potential for respiratory dis-

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FIGURE 9 Continued.

tress. Other stages of the auricular construction include lobule transposition, detachment of the auricle with a skin graft, management of the hairline, and tragus construction. When treating microtia in the Treacher Collins patient, the option of middle ear surgery must be considered. Auricular construction should precede any middle ear surgery because once an attempt is made to do such surgery, the chances of obtaining a satisfactory auricular repair are severely compromised because of scarring of the skin envelope. When middle ear surgery is an option, Brent suggests that the cartilaginous framework be sculpted with wider conchae to accommodate a future surgical canal. External Auditory Canal and Middle Ear Reconstruction Although some of the hearing loss in the TCS patient is attributable to external auditory canal stenosis or atresia, most

of the loss (on average, 44 dB) is attributable to hypoplastic middle ear cavities and ankylotic or missing ossicles. Ankylosed or nonfunctioning ossicles appear to limit hearing conduction to the same extent that they would if they were absent (Jahrsdoerfer et al., 1989). Middle ear reconstruction in some patients with TCS has resulted in signicant gains in hearing (Jahrsdoerfer et al., 1989). However, even if the ossicles are mobilized, there remains middle ear dysmorphology for most, which results in residual hearing loss and leaves the patient dependent on some form of amplication. Jahrsdoerfer et al. (1989) reported on a group of TCS patients who underwent surgery for hearing rehabilitation, and they conrmed the generally unsuccessful attempts to satisfactorily improve nonaided long-term hearing. A form of bone conduction hearing aid is required for proper amplication in most reconstructed or nonreconstructed patients. The bone conduction hearing aid

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FIGURE 10 A 16-year-old born with Treacher Collins syndrome that was followed longitudinally and then underwent orbitozygomatic and orthognathic reconstruction. Orthodontic treatment included maxillary rst bicuspid extractions with retraction of the incisors and correction of arch form. Orthognathic surgery included a maxillary Le Fort I osteotomy (vertical intrusion and horizontal advancement); bilateral sagittal split osteotomies of the mandible (horizontal advancement); and an osteoplastic genioplasty (horizontal advancement). A: Frontal view before and (B) after surgery; prole view (C) before

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FIGURE 10 Continued. and (D) after surgery; occlusal view (E) before and (F) after reconstruction; right oblique occlusal view (G) before and (H) after reconstruction; left oblique occlusal view (I) before and (J) after reconstruction; palatal view (K) before and (L) after reconstruction (Reprinted with permission from Posnick JC. TCS: evaluation and treatment. In: Posnick JC. Craniofacial and Maxillofacial Surgery in Children and Young Adults. Philadelphia: WB Saunders; 2000:412413).

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FIGURE 11 Dental casts and computed tomography (CT) scans of patient in Figure 10. A and B: Articulated dental casts (frontal and prole views) after model surgery. C: Comparison of axial CT slices of patient before and after malar reconstruction. D: Comparison of three-dimensional CT scans (oblique view) of craniofacial region before and after malar reconstruction (prior to orthognathic surgery). (Reprinted with permission from Posnick JC. TCS: evaluation and treatment. In: Posnick JC. Craniofacial and Maxillofacial Surgery in Children and Young Adults. Philadelphia: WB Saunders; 2000:414).

may be a traditional unit, modied amplication system, or bone-anchored conduction unit. According to Brent (1999), for the gains for any middle ear surgery to outweigh the risks and complications of the procedure, it should be reserved for bilateral microtia and selected unilateral microtia patients in whom there is a high personal motivation and favorable radiologic evidence of middle ear development. Furthermore, it must be planned through a team approach with an otologist and auricular-plastic surgeon who are competent and experienced with ear canal atresia, middle ear malformations, and microtia repair. At the time of middle ear surgery, the auricular-plastic surgeon initiates the procedure by lifting the ear from its bed while carefully preserving

the connective tissue on the framework under the surface. The otologist then proceeds, rst by drilling a bony canal and completion of ossiculoplasty and then by repairing the tympanum with a temporal fascia graft. The auricular-plastic surgeon excises the soft tissues to exteriorize the meatus through the chondral region and harvests a skin graft that the otologist uses to line the new external auditory canal. CONCLUSIONS
AND

FUTURE DIRECTIONS

The current approach to the correction of the deformities associated with TCS is to stage the reconstruction to coincide with facial growth patterns, visceral function, and psychosocial

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needs. Precise morphologic, aesthetic analysis of each patient and the recognition for the need of a staged reconstructive approach serve to clarify the objectives of each phase of treatment both for the clinicians and the family. Future management of TCS will be inuenced by advances in molecular genetics. Improved genetic testing will identify the individual at risk and prenatal diagnosis during the rst trimester of fetal development will be available. For families at risk, the selection of unaffected genetic material may one day allow for avoidance of the problem altogether. At the present time, there are many obstacles to the successful reconstruction of the individual with TCS. In the future it is hoped that the techniques of tissue engineering will facilitate the construction of autogenous external ears. Advances in the management of hearing loss associated with inner and middle ear anomalies are desperately needed to facilitate the communication skills of individuals with TCS. Effective and reliable bone substitutes will one day simplify the reconstruction of the congenitally absent and dysmorphic zygomatic-orbital complex. Improved ways of replacing the congenitally absent condyle/ascending rami of the mandible and glenoid fossa/ TMJ complex must be sought. The engineering of the soft tissues to replace the severely hypoplastic upper and lower eyelids and lateral canthal complexes will be a major advance. For those infants with breathing difculties, a simplied, safe, and improved way of delivering supplemental oxygen rather than by a traditional tracheostomy, which interferes with speech and often results in subglottic scar tissue and stenosis, must be developed. In the meantime, by continuing to think through a logical rationale for the timing, methods, and extent of surgical intervention and then objectively evaluating functional, morphologic (aesthetic), and psychosocial outcomes, the outlook for patients affected by this malformation will continue to improve. REFERENCES
Argenta LC, Iacobucci JJ. TCS: present concepts of the disorder and their surgical correction. World J Surg. 1989;13:401409. Behrents RG, McNamara JA, Avery JK. Prenatal mandibulofacial dysostosis (TCS). Cleft Palate J. 1977;4:1334. Berry GA. Note on a congenital defect colobomata of the lower lid. R Lond Ophthalmic Hosp Rep. 1889;12:255. Bregeat P. Thirty-six years after a mandibulofacial dysostosis operation. Ophthalmic Paediatr Genet. 1985;6:313316. Brent B. Technical advances in ear reconstruction with autogenous rib cartilage grafts: Personal experience with 1200 cases. Plast Reconstr Surg. 1999;104: 319334. Caldarelli DD, Hutchinson JG Jr, Pruzansky S, Valvassori GE. A comparison of microtia and temporal bone anomalies in hemifacial microsomia and mandibulofacial dysostosis. Cleft Palate J. 1980;17:103110. Cohen SR, Ross DA, Burstein FD, Lefaivre JF, Riski JE, Simms C. Skeletal expansion combined with soft-tissue reduction in the treatment of obstructive sleep apnea in children: physiologic results. Otolaryngol Head Neck Surg. 1998;119:476485. Dahl E, Kreiborg S, Bjork A. A morphologic description of a dry skull with mandibulofacial dysostosis. Scand J Dent Res. 1975;83:257266. Daniels S, Ellis E III, Carlson DS. Histologic analysis of costochondral and

sternoclavicular grafts in the TMJ of the juvenile monkey. J Oral Maxillofac Surg. 1987;45:675683. Diner PA, Kollar E, Martinez H, Vasquez MP. Submerged intraoral device for mandibular lengthening. J Craniomaxillofac Surg. 1997;25:116123. Ebata T, Nishiki S, Masuda A, Amaha K. Anesthesia for TCS using a laryngeal mask airway. Can J Anaesth. 1991;38:10431045. Ellis E III, Calson DS. Histologic comparison of the costochondral, sternoclavicular, and temporomandibular joints during growth in macaca mulata. J Oral Maxillofac Surg. 1986;44:312321. Farkas LG, Posnick JP. Detailed morphology of the nose in patients with TCS. Ann Plast Surg. 1989;22:211219. Farkas LG, Posnick JC, Winemaker MJ. The orbital protrusion in TCS: a tool for determining the degree of soft tissue damage. Dtsch Z Mund Kiefer Gesichtschir. 1989;13:429432. Fernandez AO, Ronis ML. The TCS patient. Arch Otolaryngol. 1964;80:505. Figueroa AA, Peterson-Falzone SJ, Friede H, Begole EA. Neurocranial morphology in mandibulofacial dysostosis (TCS). Cleft Palate Craniofac J. 1993;30:369375. Franceschetti A, Klein D. The mandibulofacial dysostosis: A new hereditary syndrome. Acta Ophthalmol (Scand). 1949;27:143. Fuente del Campo A, Martinez Elizondo M, Arnaud E. TCS (mandibulofacial dysostosis). Clin Plast Surg. 1994;21:613623. Garner LD. Cephalometric analysis of Berry-TCS. Oral Surg Oral Med Oral Pathol. 1967;23:320327. Gorlin RJ, Cohen MM Jr, Levin LS. Syndromes of the Head and Neck. 3rd ed. New York. Oxford University Press; 1990;649652. Granstrom G, Kullaa-Mikkonen A. Experimental craniofacial malformations induced by retinoids and resembling branchial arch syndromes. Scand J Plast Reconstr Surg Hand Surg. 1990;24:312. Henning TB, Ellis E III, Carlson DS. Growth of the mandible following replacement of the mandibular condyle with the sternal end of the clavicle: an experimental investigation in Macaca mulatta. J Oral Maxillofac Surg. 1992;50:11961206. Herberts G. Otological observations on the TCS. Acta Otolaryngol. 1962; 54:457. Herring SW, Rowlett UF, Pruzansky S. Anatomical abnormalities in mandibulofacial dysostosis. Am J Med Genet. 1979;3:225229. Hollier LH, Kim JH, Grayson B, McCarthy JG. Mandibular growth after distraction in patients under 48 months of age. Plast Reconstr Surg. 1999;103: 3611370. Hurwitz DJ. Long-term results of vascularized cranial bone grafts. J Craniofac Surg. 1994;5:237241. Hutchinson JC Jr, Caldarelli DD, Valvassori GE, Pruzansky S, Parris PJ. The otologic manifestations of mandibulofacial dysostosis. Trans Am Acad Ophthalmol Otolaryngol. 1977;84:520528. Jabs EW, Li X, Coss CA, Taylor EW, Meyers DA, Weber JL. Mapping the TCS locus to 5q31.33-q33.3. Genomics. 1991;11:193198. Jabs EW, Li X, Lovett M, Yamaoka LH, Taylor E, Speer MC, Coss CA, Cadle R, Hall B, Brown K. Genetic and physical mapping of the TCS locus with respect to loci in the chromosome 5q3 region. Genomics. 1993;18:713. Jackson IT, Bauer B, Saleh J, Sullivan C, Argenta LC. A signicant feature of Nager syndrome: palatal agenesis. Plast Reconstr Surg. 1989;84:219226. Jahrsdoerfer RA, Aguilar EA, Yeakley JW, Cole RR. TCS: an otologic challenge. Ann Otol Rhinol Laryngol. 1989;98:807812. Kaban LB, Moses ML, Mulliken JB. Surgical correction of hemifacial microsomia in the growing child. Plast Reconstr Surg. 1980;82:919. Kolar JC, Farkas LG, Munro IR. Surface morphology in TCS: an anthropometric study. Cleft Palate J. 1985;22:266274. Kovacs AL. Use of the Augustine stylet anticipating difcult tracheal intubation in TCS. J Clin Anesth. 1992;4:409. Kreiborg S. Discussion: the skeletal anatomy of mandibulofacial dysostosis (Treacher Collins syndrome). Plast Reconstr Surg. 1986;78:469. Kreiborg S, Dahl E. The cranial base and face in mandibulofacial dysostosis. Am J Med Genet. 1993;47:753760. Maran AGD. The TCS patient. J Laryngol Otol. 1964;78:135. Marres HA, Cremers CW, Marres EH. TCS: management of major and minor anomalies of the ear. Rev Laryngol Otol Rhinol (Bord). 1995a;116:105108.

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Marres HA, Cremers CW, Marres EH, Huygen PL. Ear surgery in TCS [review]. Ann Otol Rhinol Laryngol. 1995b;104:3141. Marsh JL, Celin SE, Vannier MWS, Gado M. The skeletal anatomy of mandibulofacial dysostosis (TCS). Plast Reconstr Surg. 1986;78:460470. Moore MH, Guzman-Stein G, Proudman TW, Abbott AH, Netherway DJ, David DJ. Mandibular lengthening by distraction for airway obstruction in TCS. J Craniofac Surg. 1994;5:2225. Mukhopadhyay P, Mukherjee P, Adhikary M. Problems in the anesthetic management of Pierre Robin and TCS. Indian Pediatr. 1992;29:1120. Munro IR, Kay PP, Randall P, Ruff GL, Siebert JW. Craniofacial syndromes. In: McCarthy JG Jr, ed. McCarthys Plastic Surgery. Vol. 4. Philadelphia. WB Saunders; 1990:31013160. Nager FR, deRaynier JP. Das Gehoerorgan bei den angeborenen Kopfmissbildungen. Pract Otolaryngol (Basel). 1948;10(suppl 2):1. Peterson-Falzone S, Figueroa AA. Longitudinal changes in cranial base angulation in mandibulofacial dysostosis. Cleft Palate J. 1989;26:3135. Posnick JC. Occlusal plane rotation: aesthetic enhancement in mandibular micrognathia [discussion]. Plast Reconstr Surg. 1993;91:1241. Posnick JC. TCS. In: Aston SJ, Beasley RW, Thorne CAM, eds. Grabb and Smith Plastic Surgery. 5th ed. Philadelphia: Lippincott-Raven; 1997a:313 319. Posnick JC. TCS: evaluation and treatment. In: Posnick JC. Craniofacial and Maxillofacial Surgery in Children and Young Adults. Philadelphia: WB Saunders; 2000;391418. Posnick JC. TCS: perspectives in evaluation and treatment. J Oral Maxillofac Surg. 1997b;55:11201133. Posnick JC, Al-Qattan MB, Moffat SM, Armstrong D. Cranio-orbito-zygomatic measurements from standard CT scans in unoperated TCS patients: comparison with normal controls. Cleft Palate Craniofac J. 1995;32:2024. Posnick JC, Goldstein JA, Waitzman A. Surgical correction of the Treacher Collins malar deciency: quantitative CT scan analysis of long-term results. Plast Reconstr Surg. 1993;92:1222. Poswillo D. The pathogenesis of the TCS (mandibulofacial dysostosis). Br J Oral Surg. 1975;13:126. Pron G, Galloway C, Armstrong D, Posnick JC. Ear malformation and hearing loss in patients with TCS. Cleft Palate Craniofac J. 1993;30:97103.

Rasch DK, Browder F, Barr M, Greer D. Anesthesia for Treacher Collins and Pierre Robin syndromes: a report of three cases. Can Anaesth Soc J. 1986; 33:364370. Roberts FG, Pruzansky S, Aduss H. An x-radiocephalometric study of mandibulofacial dysostosis in man. Arch Oral Biol. 1975;20:265281. Rogers BO. Berry-TCS: a review of 200 cases. (Mandibulofacial dysostosis, Franceschetti-Zwahleen-Klein syndromes). Br J Plast Surg. 1964;17:107. Rosen HM. Occlusal plane rotation: aesthetic enhancement in mandibular micrognathia. Plast Reconstr Surg. 1993;91:12311240. Roth DA, Gosain AK, McCarthy JG, Stracher MA, Lefton DR, Grayson BH. A CT scan technique for quantitative volumetric assessment of the mandible after distraction osteogenesis. Plast Reconstr Surg. 1997;99:12371247. Siebert JW, Goesel A, Longaker MT. Microsurgical correction of facial asymmetry in 60 consecutive cases. Plast Reconstr Surg. 1996;97:353363. Tessier P, Tulasne JF. Stability in the correction of hypertelorbitism and TCSs. Clin Plast Surg. 1989;16:195204. Tessier P, Tulasne J. TCS. In: Marchac D, ed: Craniofacial Surgery. New York: Springer Verlag; 1985. Treacher Collins ET. Cases with symmetrical congenital notches in the outer part of each lower lid and defective development of malar bones. Trans Ophthalmol Soc U K. 1900;20:190. Tulasne JF, Tessier PL. Results of the Tessier integral procedure for correction of TCS. Cleft Palate J. 1986;23(Suppl 1):4049. Van der Meulen JC, Hauben DJ, Vaandrager JM, Birgenhager-Frenkel DH. The use of a temporal osteoperiosteal ap for the reconstruction of malar hypoplasia in TCS. Plast Reconstr Surg. 1984;74:687693. Walker JS, Dorian RS, Marsh NJ. Anesthetic management of a child with Nager syndrome. Anesth Analg. 1994;79:10251026. Waitzman AA, Posnick JC, Armstrong D, Pron GE. Craniofacial skeletal measurements base on computed tomography. Part 1: accuracy and reproducibility. Cleft Palate Craniofac J. 1992a;29:112117. Waitzman AA, Posnick JC, Armstrong D, Pron GE. Craniofacial skeletal measurements base on computed tomography. Part 2: normal values and growth trends. Cleft Palate Craniofac J. 1992b;29:118128. Zanini S, Viterbo F, Parro F, Tershakowec M. Bone graft of the zygoma in a patient with TCS. J Craniofac Surg. 1994;5:270.