Jeffrey C. Posnick, DMD, MD

Inheritance, Genetic Markers, and Testing

The occurrence of TCS is in the range of 1 in 25,000 to 1 in 50,000 live births. Inheritance is autosomal dominant, and male and female individuals are equally affected.⁵¹ About 60% of probands with TCS have the disorder as the result of a de novo gene mutation. Each child of an individual with TCS has a 50% chance of inheriting the mutation (Fig. 27-2). Teber and colleagues identified TCOF1 mutations in 28 out of 36 (78%) individuals with a clinically unequivocal diagnosis of TCS.¹⁴⁷ The most frequent clinical findings were downward-slanting palpebral fissures, hypoplasia of the zygomatic complex, hypoplasia of the mandible, conductive deafness, any degree of microtia, and atresia of the external ear canal. Although there were interfamilial and intrafamilial variations that ranged from mild to severe, there were no genotype or phenotype correlations. Four clinically unaffected parents were heterozygous for the TCOF1 mutation. The authors concluded that modifying factors are important for phenotypic expression.

Genetic counseling for TCS is the process of providing individuals and families with information about the nature, inheritance, and implications of the syndrome to help them make informed medical and personal decisions. Molecular testing should be considered for any individual who presents with at least two major features or three minor features of TCS.30,32,34,62,63,72,85,88,89,154,161,165 Until recently, penetrance in TCS was believed to be complete. Marres and colleagues confirmed the absence of clinical and radiographic findings in an individual with a pathogenic TCOF1 mutation. For this reason, testing is acceptable for individuals with any degree of severity of TCS features to confirm or refute the diagnosis.

Prenatal diagnosis for pregnancies that are at increased risk for TCS is possible via the analysis of DNA extracted from fetal cells obtained by amniocentesis; this is usually performed at about 15 to 18 weeks’ gestation. Chorionic villus sampling can also be used for diagnosis at about 10 to 12 weeks’ gestation. The malformation-causing allele of an affected family member must be identified before prenatal testing can be performed.

Considerations during Infancy and into Early Childhood

At the time of the birth of a child with TCS, concerns will center on the adequacy of the airway, swallowing, feeding, hearing, vision (corneal protection), the presence of cleft palate (with or without cleft lip), any other associated malformations, and the psychosocial well-being of the family.8,17,27,31,77,94,95,101,103,104,120,160 The airway may be compromised as a result of multiple factors. The first is maxillary hypoplasia, which occurs with a degree of choanal stenosis or atresia with the blockage of the nasal airway. Second, mandibular micrognathia with a retropositioned tongue that at least partially obstructs the oropharyngeal and hypopharyngeal spaces will be present. In addition, tracheomalacia, vocal cord anomalies, or neuromotor involvement may also negatively affect the upper airway. Depending on the severity of the anomalies, a spectrum of upper airway compromise may necessitate, at a minimum, special infant positioning, an extended hospital stay, and pulse oximetry monitoring. Surgical considerations for the management of airway compromise in the infant or young adult may include tongue–lip adhesion, the use of a custom-made oral appliance, immediate or delayed tracheostomy, or an urgent mandibular advancement procedure.

As a result of any compromise in nasal and oral breathing and associated musculoskeletal malformations, the newborn with TCS may also have difficulty with swallowing and with achieving an adequate lip seal to the extent that urgent gavage-assisted feedings or the placement of a gastrostomy tube may be required to ensure adequate nutrition.

When a cleft of the secondary palate is documented, potential additive effects on the airway before and after repair must be considered. When Nager syndrome is present, the soft palate is both clefted and severely hypoplastic to the extent that the achievement of a functioning palate is not feasible.65,96 A primary pharyngeal flap—although helpful for velopharyngeal function—is rarely indicated, because further obstruction of the airway would likely result. Evaluation by a medical geneticist is indicated to clarify the diagnosis and all presenting anomalies, to discuss family planning issues, and to analyze chromosomal studies.

Within a few days of birth, the results of an examination by an experienced pediatric otolaryngologist in combination with formal audiology testing will clarify the extent of conductive hearing loss and allow for the early fitting 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 early in life, a complete craniofacial computed tomography (CT) scanning from the top of the skull through the cervical spine with three-dimensional reformation will be useful to document the extent of craniofacial skeletal anomalies. Special focused cuts through the petrous temporal bones are also required to document external auditory canal and middle and inner ear anatomy. Appropriate craniofacial, maxillofacial, cleft lip and palate, and auricular reconstructive surgeons should also be consulted, as indicated.

An assessment by a pediatric ophthalmologic is necessary to determine associated eye anomalies, extraocular muscle function, corneal exposure difficulties, and visual acuity. Ophthalmologic issues may include vision loss (37%), amblyopia (33%), refractive errors (58%), anisometropia (17%), and strabismus (37%). Interestingly, it has been the impression of many clinicians and scientists that the individual with TCS has a tendency toward a short stature, at least early in life, and that above-average intelligence is generally observed.

Dysmorphology with Treacher Collins Syndrome

Facial Growth Potential with Treacher Collins Syndrome

The degree of malformation present at the time of birth in a newborn with TCS is believed to be relatively stable and non-progressive with age (Figs. 27-3 through 27-6).^{53,102,109,114,115,124} Roberts and associates reviewed serial cephalometric radiographs from individuals who were known to have TCS.¹²⁴ They documented the stability of the mandible, which continued to grow but not to catch up. Through independent research, Garner reported findings of the cephalometric analysis of three patients of varied ages who were confirmed to have TCS.⁴⁹ He also documented the relative stability of the anomalies without the progression of deformity at various ages.

To date, no convincing evidence demonstrates a clinically significant worsening of the TCS dysmorphology with facial growth. Early surgical interventions with mandibular osteotomies involving the use of either osteodistraction or standard orthognathic techniques are believed to adversely affect growth, thereby necessitating revision osteotomies at maturity. For this reason, waiting until the majority of jaw growth is complete before reconstructing the maxillomandibular components is recommended, if feasible. In any case, early mandibular surgery should not be expected to prevent the need for definitive maxillofacial reconstruction at maturity.

Classification of Temporomandibular Joint and Mandibular Malformation

The extent of TMJ–mandibular malformation in patients with TCS will influence the timing and techniques of reconstruction.69,137 A lack of clinically relevant definitions of the presenting glenoid fossa–condyle–ascending ramus malformations has resulted in confusion and miscommunication. Kaban and colleagues revised and clarified the previously described Pruzansky classification system for the degree of TMJ–mandibular malformation observed in patients with hemifacial microsomia.^69,119 This classification is also useful to define the presenting anomalies and then to direct reconstruction in the patient with TCS (Fig. 27-7).

A Type I TMJ–mandibular malformation involves minimal hypoplasia of the glenoid fossa and the condyle–ascending ramus on each side. All of the skeletal components are present (see Fig 27-7, A). Mandibular retrognathia and a mild anterior open bite are likely to be present, but TMJ function is essentially normal. The muscles of mastication are intact, and the condyle and the glenoid fossa are also fully intact. There is no need or advantage to constructing a neo-condyle or neo-glenoid fossa.

A Type IIA TMJ–mandible malformation involves a moderate degree of glenoid fossa and condyle–ascending ramus hypoplasia (see Fig. 27-7, B, C, and D). The anatomic location of each joint is anterior and medial, but TMJ function remains satisfactory. One or more of the paired muscles of mastication are likely to be hypoplastic. By definition, in Type IIA malformations, the condyle and the glenoid fossa have function that is at a level deemed better than could reliably be achieved through TMJ replacement. Even in patients with more severe Type IIA malformations, when applying superior and posterior pressure to the chin, the condyles can be seated into a consistent location against the skull base–glenoid fossa. By completing ramus osteotomies, the proximal segments can be positioned into a stable location against the skull base, and the distal mandible can then be reoriented into the preferred location. This will avoid the need to construct neo-condyles (e.g., costochondral grafts). Coronoidectomies may be required to accommodate the short condyles.

The Type IIB TMJ–mandibular malformation involves severe hypoplasia of the condyles. The mandible is without a stable centric relation. The glenoid fossa may be hypoplastic, but they are deemed functional. The hypoplastic condyles do not consistently seat in the glenoid fossa, and the mandible functions within a limited range of motion. The extent of mandibular retrognathia and anterior open bite is marked. With Type IIB TMJ–mandibular malformations, the rudimentary condyles are deemed too far medially and anteriorly displaced to be useful. The construction of a neo-condyle ascending ramus with the use of a bone graft is required (see discussion to follow). Coronoidectomies and recontouring of the surgically advanced mandible may be required. Fortunately, this pattern of malformation occurs in only a small percentage of patients with TCS.

The Type III glenoid fossa–mandibular malformation involves deficiency to the extent that no posterior stop of the lower jaw against the cranial base is possible (see Fig. 27-7, E). The condyles and the ascending rami are not present. The disc, the TMJ capsule, and the glenoid fossa on each side are also not developed. Severe mandibular dysmorphology is present, including horizontal retrognathia and decreased posterior ramus height. A tracheostomy is generally required shortly after birth to manage the airway. Eventual construction of both a neo-glenoid fossa and a neo-condyle ascending ramus will be required on each side. Reconstruction with bone grafts (e.g., cranial grafts for the zygomatic complex and either costochondral or a vascularized fibula flap for the mandible) will be required (see discussion to follow).

Staging of Skeletal Reconstruction: Timing and Techniques

The reconstruction and rehabilitation of the Treacher Collins malformation must address unique and specific components of the anomalies, including the following: 1) the zygomatic and orbital region; 2) the maxillomandibular region; 3) the nasal region; 4) the soft-tissue envelope; 5) the external ears; 6) the external auditory canals; and 7) the middle-ear structures (Figs. 27-8 through 27-10).*

Indications for First-Stage Mandibular Reconstruction in the Newborn

TCS is a clefting syndrome that involves both sides of the face (i.e., the first and second branchial arches) in which upper airway anomalies occur with both regularity and variation. Hypoplasia of the mandible is one of the constant but variable components of the syndrome.* Individuals with TCS are known to be at risk for sleep apnea, which has been reported to occur in more than 25% of affected individuals. For those with OSA who are tracheostomy dependent, an alternative method of treatment may include the sagittal advancement of the mandible to bring the tongue forward, to create space in the oral cavity, and to open up the retromandibular airway. DO techniques to gradually advance and then hold the mandibular segments until consolidation occurs have been used to improve the airway for almost two decades.* The use of this technique has been reported by several authors as an effective method of decannulating otherwise tracheostomy-dependent individuals with TCS. The implications of this early mandibular advancement approach for long-term airway success and as a definitive jaw reconstruction option for patients with TCS have undergone little critical analysis.³⁷

Anderson and colleagues reported the long-term results of mandibular lengthening with a DO approach that was carried out during the patient’s childhood for the management of airway obstruction in an individual with TCS.² They documented that the airway improved in a 6-year-old patient with TCS after DO of the mandible to the extent that decannulation and the early resolution of airway obstruction were achieved. They showed that the minimum cross-sectional airway in this patient increased during the period of distraction but did not reach age-adjusted normal values. Subsequent serial scans over 10 progressive years of growth demonstrated that the minimal cross-sectional airway did not increase further. Specifically, measurements of the cross-sectional area that were taken at a fixed point of the upper airway (i.e., the base of the C2 vertebral body) demonstrated no increase in the cross-sectional area during growth. The published longitudinal case study from these authors demonstrates a failure of a sustained satisfactory cross-sectional area of the upper airway with chronologic age. They also used three-dimensional CT scans to document that mandibular growth continued in the same dysmorphic TCS pattern as it had before the distraction intervention. This resulted in an abnormally steep (clockwise rotated) mandibular plane angle. The combination of an increasingly steep mandibular plane angle and the failure of the distraction procedure to produce long-term positive horizontal projection was believed to have created the skeletal basis for ongoing upper airway obstruction. The authors conclude that a mandibular DO procedure carried out in a child with TCS who is experiencing OSA maybe useful for opening the retromandibular airway. However, the initial improvement in the upper airway did not continue during chronologic growth. The clinical consequences were the reemergence of the symptoms of OSA that required further treatment (i.e., continuous positive pressure airway mask at night or tracheostomy). It is also known that a mandibular lengthening procedure carried out during early childhood will have other detrimental effects, including injury to the developing teeth; deformational growth of the mandible; facial soft-tissue scarring; injury to the inferior alveolar nerve; a significant incidence of TMJ ankylosis (both bony and fibrous); perioperative cardiovascular and respiratory complications in some patients; expense to the family and medical health care system; and the need for definitive jaw reconstruction at maturity.⁷ Despite almost two decades of accumulated worldwide experience, the role of mandibular DO in the treatment protocol for infants and children with TCS remains to be determined through long-term outcome studies. In the absence of sound data, the use of mandibular osteotomies and lengthening procedures—by whatever means—during infancy and childhood should be used cautiously and selectively.

Indications for First-Stage Mandibular Reconstruction during the Mixed Dentition

When a first-stage mandibular reconstruction during the mixed dentition for the Type IIB condylar malformation is felt to be indicated, it is preferably carried out after the child is 7 to 10 years old and only after the eruption of the mandibular permanent first molars.105–110,112,114,115 Unfortunately, a first-stage early mandibular reconstruction will not provide a long-term resolution of the mandibular and other maxillofacial deformities.* Problems with costochondral graft overgrowth, undergrowth, and asymmetrical growth as well as with infection and TMJ ankylosis continue to plague the reconstructive surgeon (see Chapter 26). The final orthognathic correction of the upper jaw, the lower jaw, and the chin region will be required later, after early skeletal maturity (i.e., after 13 to 15 years of age).

The rationale for postponing the correction of the maxillomandibular deformity until the time of early skeletal maturity (i.e., 13 to 15 years of age) is the same as that for patients with standard dentofacial deformities, for those with other associated syndromes, and for those with a cleft lip and palate jaw deformity. The reasons that mandibular surgery during the mixed dentition is generally not preferred include the following: 1) to avoid injury to the developing permanent dentition and the inferior alveolar nerves7,164; 2) to avoid soft-tissue (cutaneous) scarring; 3) to limit perioperative airway and infection complications; 4) to limit the patient’s negative psychosocial memories; and (5) to avoid any iatrogenic deformity of the TMJs and the mandible that may add difficulty to the achievement of a long-term favorable reconstruction.

In addition, safe and effective osteotomies in the malformed upper jaw and chin are not carried out during childhood as a result of the position of the developing teeth and the expected induced growth restrictions that would occur. The literature now confirms a lack of continued horizontal maxillary growth after early Le Fort I osteotomy. In addition, the favorable surgical placement of the jaws during the mixed dentition to ensure long-term functional occlusion and enhanced aesthetics is not realistic.

In individuals with TCS, a Le Fort I osteotomy will be required to correct vertical, horizontal, and transverse maxillary deformities. The maxillomandibular complex invariably benefits from counterclockwise rotation for the correction of pitch orientation. Intrusion of the anterior maxilla is generally needed to establish a more normal upper-lip–to–tooth relationship during smile and in repose. The posterior maxillary height may require lengthening, but more frequently it can remain close to a neutral position. The planned maxillary plane change (i.e., pitch orientation) is carried out to achieve appropriate counterclockwise rotation of the mandible and the chin. The objectives are 1) to normalize the anterior facial height; 2) to open the upper airway; and 3) to establish an aesthetically improved A-point–to–B-point relationship when the patient is viewed in profile. In 1993, Rosen documented the long-term stability of the counterclockwise rotation of the lower jaw when this is required to improve function and enhance the facial aesthetics in patients with mandibular micrognathia. Others have carried out similar clinical studies that have confirmed the long-term skeletal stability of mandibular counterclockwise rotation as part of an orthognathic correction.127,168

For the Type I and IIA mandibular malformations, bilateral intraoral sagittal split osteotomies are generally the preferred ramus procedures, because they allow for effective horizontal advancement, counterclockwise rotation of the mandible (without the need to actually lengthen the posterior facial height); and sufficient bone contact across each osteotomy site (see Fig. 27-8, C). Stabilization at each mandibular osteotomy site is accomplished with titanium plates and screws as needed. Interposed (e.g., autogenous iliac) corticocancellous bone graft is used when required.

For the Type IIB and Type III rib or fibula graft-constructed mandible that was created earlier during the patient’s life, splitting in the ramus region at the time of definitive reconstruction is preferred when feasible. The degree of bone contact across the osteotomy site after the advancement of the distal mandible is generally limited in these circumstances. The need for an interpositioned corticocancellous bone graft (e.g., autogenous iliac) should be anticipated (see Chapter 28).

For most patients with TCS, DO osteogenesis techniques have failed to demonstrate lower morbidity or improved soft-tissue response as compared with standard osteotomies.* Data have indicated significant relapse during the consolidation phase of DO techniques and no ongoing jaw growth when the procedure is carried out during childhood. Kaban and colleagues and others continue to refine the application of curvilinear DO for the correction of the complex mandibular deformities of severe forms of TCS.⁶⁹ Despite their best efforts when using DO techniques, reliable three-dimensional vector control to achieve preferred proportions and symmetry of the osteotomized skeletal segments remains a work in progress. For these reasons, until DO technology and its clinical applications improve, we prefer the standard orthognathic correction of the maxillomandibular imbalance in patients with TCS when feasible.

Nasal Reconstruction

The bridge of the nose in the adult with TCS often has mild to moderate increased width, and a mid-dorsal hump is always present. The length of the nose is usually normal, but it seems long as a result of the imbalance with the upper and lower skeletal thirds of the face; Also, the tip often droops and lacks the preferred projection. Most patients benefit from a rhinoplasty that includes osteotomies with in-fracture; the conservative reduction of the skeletal and cartilaginous dorsal hump; the removal of the cephalic portions of the lower lateral cartilages; and septal cartilage grafting (i.e., a caudal strut) sutured to the anterior septum to improve tip projection and definition. To achieve the most favorable aesthetic results, it is best to postpone the rhinoplasty until after effective orthognathic procedures have been performed. Exposure is provided through an open (i.e., columella-splitting incision) technique (see Chapter 38 and Fig. 27-9).

Facial Soft-Tissue Reconstruction

Despite several decades of well-intentioned surgical attempts to improve the soft-tissue deficiencies of the eyelid–adnexal regions, few aesthetically pleasing soft-tissue eyelid reconstructive results in patients with TCS have been reported.64,82,83,129,135,143,148,156 The transposition of pedicled upper-eyelid-skin–muscle flaps to deficient regions of the lower eyelid is not technically difficult; unfortunately, the adnexal scarring that inevitably occurs often 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 option. It predictably leaves a “patchy” look, and it should be reserved only for patients with recalcitrant corneal exposure problems. The lateral canthi are inferiorly displaced as a result of both orbital dystopia and hypoplasia of the lateral canthi and other components of the eyelid structures. Although the correction of the orbital dystopia and direct lateral canthopexies are helpful and should be carried out, they rarely normalize the multilevel soft-tissue hypoplasia of the specialized adnexal structures (i.e., skin, cartilage, eyelashes, ligament, fascia, and tendon). For these reasons, it is best to consult with an experienced oculoplastic surgeon when considering even minor eyelid procedures for patients with TCS.

The observed temporal fossa hollowing that is frequently encountered with TCS is also a reflection of multilevel hypoplasia that includes the skin, the temporoparietal fascia, the temporalis muscle, and the decreased bitemporal width of the anterior cranial vault. For this reason, transposing pericranial or temporoparietal congenital hypoplastic flaps will have limited utility for the management of either temporal or adnexal region subcutaneous deficiency.

When the procedure is meticulously designed and expertly executed, the transfer of soft-tissue flaps from other body regions, with microvascular reanastomosis, should be considered for reconstruction of TCS.64,82,83,129,135,143,148,156 When this level of facial soft tissue replacement is required, parascapular free flaps have become the workhorse since they were first described by Dos Santos. Siebert and colleagues found that the parascapular flap allows for the reasonable correction of contour defects in the lateral aspects of the face; this yields improved aesthetic results in selected patients with TCS by providing vascularized soft tissue in the subcutaneous plane while minimizing scarring.¹³⁵ Fortunately, hypoplasia of the centrally located soft tissues of the face (i.e., forehead, nose, upper and lower lips, chin, and submental region) is not seen in patients with TCS. Dermal fat grafts, autogenous fat injections, and other forms of soft-tissue augmentation have gained popularity. The results of autogenous fat injection are variable and considered technique sensitive; they are generally not harmful, and they are clearly promising. Tanna and colleagues investigated the use of serial autologous fat grafting to restore soft-tissue contour in patients with hemifacial microsomia.¹⁴⁴ Patients with moderate to severe hemifacial microsomia were divided into two groups: Group I included those undergoing microvascular free-flap reconstruction (i.e., inframammary extended circumflex scapular flaps; n = 10); Group II included those undergoing multiple staged autogenous fat grafting (n = 21). The two patient groups had similar OMENS scores (2.4 and 2.3, respectively) and similar pre-reconstruction facial symmetry scores (74% and 75%, respectively). At the final evaluation, facial symmetry scores were 121% for the microvascular free-flap group and 99% for the fat-grafting group. Furthermore, no statistically significant difference between the microvascular and fat-graft groups in either patient or physician rating of overall satisfaction was noted. The extrapolation of these study results to the individual with TCS is appropriate.^52,73,144

External Ear Reconstruction

The surgical reconstruction of the auricle can be satisfactorily achieved through a staged approach in the hands of a few experts.12–15,19,40,74,75,86,111,130,140,145,146,155,162 The methods described by Brent represent the reference standard for external ear reconstruction.^12–15 The successful grafting of a well-sculpted cartilage framework is the foundation for sound auricular repair. According to Brent, most children have adequate rib cartilage for the repair by 6 years of age. At that time, the synchondrotic region of ribs 6 and 7 will provide an ample cartilage block to form the framework of the ear; this is taken from the side contralateral to the ear being constructed. With the use of the preoperatively determined measurements and a prefabricated template, the position of the ear is determined, and a small preauricular incision is made. Unusable vestigial cartilage is excised. A thin-skinned pocket is developed, with the dissection carried beyond the marked auricular outline to recruit sufficient tension-free skin coverage. For patients with bilateral microtia, Brent prefers that the harvesting of cartilage grafts for each ear be separated by several months. Simultaneous bilateral auricular reconstruction would necessitate bilateral chest wounds with severe splinting and the potential for respiratory distress. Other stages of the auricular construction include lobule transposition; the detachment of the auricle with a skin graft; the management of the hairline; and tragus construction. Brent suggests that bilateral microtia repair be completed with five procedures that are carried out at 3-month intervals.

When completing microtia reconstruction in the patient with TCS, eventual external auditory canal and middle-ear surgery must be considered. Auricular construction should precede any middle-ear surgery because, after an attempt is made to open the canal, the chances of obtaining a satisfactory auricular repair are severely compromised as a result of the scarring of the skin envelope. When middle-ear surgery is an option, Brent suggests that the cartilaginous framework be sculpted with a wider concha to accommodate a future surgically created canal.

Other options for external ear reconstruction include the use of alloplastic and homologous frameworks. Alloplastic materials that are currently in use include silicone and Medpor (Porex Surgical, Inc., College Park, Ga). These foreign substances are more susceptible to infection, soft-tissue wound dehiscence, and susceptibility to minor trauma, even decades after reconstruction. Innovative techniques of tissue engineering involving bovine cartilage cells that are grown in the laboratory and seeded on a synthetic biodegradable ear template that is then implanted beneath the skin of an immunocompetent mouse have shown promise for the future. Unfortunately, until tissue engineering evolves beyond the currently encountered immunogenic problems, sculpted autogenous rib cartilage will remain the material of choice for the surgical repair of the ear.

At the same time, unless the option of sculpted autogenous rib cartilage is carried out by an experienced auricular reconstructive surgeon, the chance of achieving an aesthetically acceptable result is slim. For this reason, the use of a prosthetic external ear or no reconstruction at all in most individuals with TCS should not be discounted automatically.

External Auditory Canal and Middle-Ear Reconstruction

Although some of the hearing loss in the patient with TCS is attributable to external auditory canal stenosis or atresia, most of the loss (i.e., an average of 44 dB) is attributable to hypoplastic middle-ear cavities and ankylotic or missing ossicles.18,58,66 Ankylosed or non-functioning ossicles appear to limit hearing conduction to the same extent as if they were absent.⁵⁵ Attempting reconstruction of the middle ear in patients with TCS can be expected to result in gains in hearing. However, even if the ossicles are mobilized, middle-ear dysmorphology remains; this results in residual hearing loss and leaves the patient dependent on some form of amplification. Jahrsdoerfer reported on a group of patients with TCS who underwent surgery for hearing rehabilitation.⁶⁶ He confirmed the generally unsuccessful attempts to satisfactorily improve “non-aided” long-term hearing. A form of bone-conduction hearing aid is required for proper amplification in most patients, including those who have undergone reconstruction as well as those who have not. The bone-conduction hearing aid may be a traditional unit, a modified amplification system, or a bone-anchored conduction unit.

According to Brent, for the gains from any middle-ear surgery to outweigh the risks and complications of the procedure, it should be reserved for selected patients with bilateral and unilateral microtia in whom personal motivation is high, in whom the favorable radiologic evidence of middle-ear development is present, and in whom a favorable outcome is expected according to an experienced otologist.12–15 Furthermore, it must be planned through a team approach with an otologist and an auricular/reconstructive 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/reconstructive surgeon initiates the procedure by lifting the reconstructed ear from its bed while carefully preserving both the connective tissue on the framework’s undersurface and the overall circulation of the flap. The otologist proceeds by drilling a bony external auditory canal, completing ossiculoplasty, and then repairing the tympanum with a temporal fascia graft. The auricular/reconstructive surgeon then 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

The current approach to the correction of malformations associated with TCS is to stage the reconstruction to coincide with facial growth patterns, visceral function (i.e., vision, breathing, chewing, swallowing, speech, hearing), and psychosocial needs. Precise morphologic analysis of each patient and the recognition of the need for a staged reconstructive approach serve to clarify the objectives at each interval for both the clinicians and the family. By continuing to define a rationale for the timing, methods, and extent of surgical, medical, and dental interventions and then objectively evaluating head and neck function, facial aesthetics, and psychosocial outcomes, the outlook for individuals affected by TCS will be greatly improved.

References