plastic and reconstructive surgery || craniofacial clefts and craniofacial syndromes

AbbreviationsOMENS Orbit asymmetry, Mandibular hyp-

oplasia, Ear deformity, Nerve dysfunc-tion, Soft tissue defi ciency

SAT Skeletal, Auricle, soft TissueTMJ Temporomandibular jointTNM Tumor, Node, Metastasis

IntroductionComposed of different aesthetic units, the face represents an outward projection of our inner

self, making it the focal point of our social identity. We can only imagine how distressing it would be for parents when their child comes into this world with a severe facial distortion. Improper treatment of the deformities can have a huge impact on the child’s social and mental develop-ment. Fortunately, craniofacial clefts are rare. However, due to the wide variability of the physi-cal phenomena and the lack of understanding with regard to their embryology, classifi cation remains problematic. Therefore, the surgical management of facial clefts requires a thorough knowledge of the craniofacial anatomy and the specifi c characteristics of each anomaly. In addi-tion, careful surgical planning with a multidisci-plinary team is essential to achieve both functional and aesthetic goals.

Craniofacial CleftsCraniofacial clefts have a multitude of clinical presentations with different levels of severity. There is a substantial amount of data to report with confi dence the incidence of the common clefts of the lip and palate with their associated racial variations. The common cleft is more likely to occur within the Asian population versus Caucasians and African Americans with incidences of 2.1 in 1,000 live births, 1 in 1,000 live births, and 0.4 in 1,000 live births, respec-tively.3,18,48 The exact rate of occurrence of atypical clefts is unknown but is estimated at 1.4–4.9 cases per 100,000 live births,32,33 therefore

19Craniofacial Clefts and Craniofacial SyndromesClaude-Jean Langevin, Earl Gage, and Frank Papay

SummaryCraniofacial clefts are challenging problems encountered by plastic surgeons. These anomalies embrace a diverse group of abnor-malities ranging from simple soft tissue defects to complex craniofacial malforma-tion. They are rare occurrences, and their wide spectrum of presentation makes classi-fi cation diffi cult. The treatments of craniofa-cial clefts require a thorough knowledge of the craniofacial anatomy, the underlying embryological pathology, and the specifi c characteristic of each entity. In addition, care-ful surgical planning with a multidisciplinary team is essential to achieve both functional and aesthetic goals.

M.Z. Siemionow and M. Eisenmann-Klein (eds.), Plastic and Reconstructive Surgery, 253Springer Specialist Surgery Series, © Springer-Verlag London Limited 2010

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approximately 100 times less frequent than the common clefts. The estimates of prevalence are largely dependent on the examiner’s attentive-ness to the minor form of craniofacial clefts. Tissue defi ciency or tissue excess characterize these malformations.

Embryology and Pathogenesis

The crucial period of organogenesis is defi ned as the fi rst 12 weeks of gestation.29,64 The struc-tural development of the cranium and face occurs between the third and eighth weeks, and it is during this period that most of the cranio-facial anomalies take place.2,37,61,64 By the end of the eighth week, the face takes on a recogniz-able human appearance. The human face is derived from five facial prominences that surround the primitive mouth known as the stomodeum. They consist of a single frontonasal process and two bilateral maxillary and mandibular processes. Both the maxillary and mandibular processes are derived from the fi rst branchial arch.

Two theories exist to explain the formation of facial clefts. The classic theory by Dursy13 and His24 claims that failure of fusion of the various facial processes would explain the morphogene-sis of facial clefting.13,24 According to this theory, facial processes are thought of as free-end pro-cesses, and once epithelial contact is established between them, mesodermal penetration com-pletes the fusion. The mesodermal penetration theory proposed by Veau,75 Warbrick,77 and Stark66 is based on the assumption that the embryonic face consists of a continuous bilami-nar ectodermal membrane with epithelial seams defi ning the major facial processes. Mesenchymal migration and penetration within this bilaminar ectoderm smooth out the seams and support the epithelial walls. Failure of mesenchymal pene-tration would lead to dehiscence and ultimately create a cleft. Consequently, the degree of cleft severity would be inversely proportional to the degree of mesodermal penetration. Furthermore, Johnston demonstrated the prime importance of neuroectodermal cells, a group of cells arising from the dorsal lateral ectoderm, in the mesen-chymal development of craniofacial structures.28 Failure in the formation, migration, or differen-tiation of these cranial neural crest cells leads to abnormal bone, cartilage, and connective tissue development.

The etiology of craniofacial clefting is believed to be multifactorial. Genetics seem to play a minor role if we make abstraction of Treacher Collins syndrome.17,20 The major etiologic causes include viral infections (rubella, cytomegalovi-rus, toxoplasmosis), maternal metabolic abnor-malities (phenylketonuria), drugs (Isotretinoin), and large-dose radiation exposure.14,26,32

Classifi cation

In 1976, Paul Tessier, the father of craniofacial surgery, fashioned a simple system of classifi ca-tion for craniofacial clefts based on skeletal and soft tissue landmarks.72 With the orbit serving as the reference point, the clefts are divided into a cranial and a facial component. Each cleft is assigned a number, from 0 to 14, relative to its position from the sagittal midline (Figure 19.1). The sum of the facial and cranial clefts typically adds up to 14. Craniofacial clefts rarely occur in a pure isolated form; they may have a unilateral or bilateral presentation with different possible clefting patterns on each side.

In 1983, van der Meulen et al.74 proposed an embryological classifi cation based on the devel-opment of the craniofacial skeleton along a heli-cal course symbolized by the letter S (Figure 19.2). The term “dysplasia” is preferred over “cleft” to describe an arrest in skin, muscle, or bone development. The ultimate craniofacial malfor-mations will depend on the localization and the time of disturbance. However, the simpler and more descriptive Tessier’s classifi cation still pre-vails and allows for easy and effective communi-cation between physicians.

No. 0 Cleft

A broad range of expression has been reported from its minor form, represented as a subtle midline notch of the upper lip, to a true median cleft lip with a broad columella, bifi d nasal tip, broad and fl attened nasal bridge, alveolar cleft between the central incisors, and hyperteleor-bitism. The nasal septum can be thickened, duplicated, or absent. It is important to note the differences between hyperteleorbitism, the increased distance between the medial orbital walls, and telecanthus, which is the lateral dis-placement of the medial canthi commonly seen in blepharophimosis. Cleft No. 0 may be expressed as either a central tissue defi ciency

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Figure 19.1. Tessier’s classifi cation of facial clefts. (Reprinted from Tessier72, Copyright 1976, with permission from Elsevier.)

(holoprosencephaly) or tissue excess (median cleft face dysmorphism). Cleft No. 14 represents the cranial extension.8,10,20,32,51,72

No. 1 Cleft

This cleft originates in the cupid’s bow area analo-gous to a common cleft lip and travels cephalad through the alar dome, parasagittal nasal dorsum, medial aspect of the eyebrow, and with possible

extension into the cranium as a cleft No. 13. A notch of the alar dome is specifi c to this cleft. An alveolar cleft can be present between the central and lateral incisors extending to the piriform aperture lateral to the anterior nasal spine.8,10,20,32,51,72

No. 2 Cleft

The cleft begins at the cupid’s bow area and typi-cally exhibits hypoplasia of the middle third of


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the alar rim, which gives a fl attened appearance to the lateral aspect of the nose. Hypoplasia, not a true notch of the middle third of the ala, is typ-ical. Hyperteleorbitism is noted; however, the nasolacrimal system, eyelid, and palpebral fissure are not involved. Alveolar clefting may be present at the lateral incisor position. Distortion on the medial brow is seen in cleft No. 12.8,10,20,32,51,72

No. 3 Cleft (Oronasal-Ocular Cleft)

Similar to clefts No. 1 and 2, it originates at the cupid’s bow area but extends cephalad across the alar base and continues superiorly between the medial canthus and the inferior lacrimal punc-tum, resulting in an inferiorly displaced medial canthus, coloboma, and nasolacrimal disruption. The alveolar cleft is usually present between the lateral incisor and the canine and terminates in the lacrimal groove. The oral, nasal, maxillary sinus and orbital cavities are contiguous. Dystopia is present and microphthalmia may be noted. Cranial extension represents a cleft No. 11.8,10,20,32,51,72

No. 4 Cleft

Cleft No. 4 originates lateral to cupid’s bow and terminates at the lower eyelid medial to the punctum without affecting the nose. The medial canthus remains intact and the nasolacrimal system functional except for the inferior canali-culus that is disturbed by the cleft. The alveolar cleft begins between the lateral incisor and the cuspid and travels medial to the infraorbital foramen. The cleft creates communication between the oral, maxillary sinus and orbital cavities excluding the nasal cavity. Dystopia and microphthalmia may be noted. Cleft No. 10 rep-resents this cranial extension.8,10,20,32,51,72

No. 5 Cleft

Extremely rare, it begins just medial to the oral commissure and extends obliquely across the cheek to end at the lateral third of the lower eyelid. Dystopia and microphthalmia may be present. Alveolar clefting occurs in the bicuspid region, courses lateral to the infraorbital foramen, and ends at the orbital rim and fl oor. Cleft No. 9 is regarded as its cranial extension.8,10,20,32,51,72

Figure 19.2. van der Meulen’s morphogenetic classifi cation of craniofacial malformations. (Reprinted with permission from van der Meulen et al.74)


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No. 6 Cleft

Often referred to as an incomplete form of Treacher Collins syndrome, this cleft is charac-terized by a channel along the zygomaticomaxil-lary suture with a hypoplastic malar bone and an intact zygomatic arch. There is no alveolar cleft. Soft tissue defect is minimal in this cleft. It is mainly characterized by a vertical groove extending from the lateral lower eyelid toward the angle of the mandible, contributing to the antimongoloid slant and coloboma. Hearing impairment is often present, although external ear deformities are rare.8,10,20,32,51,72

No. 7 Cleft

Cleft No. 7 is the most common cleft and the most lateral craniofacial cleft.5,20 It is found in both Treacher Collins syndrome, and craniofa-cial microsomia, discussed later in detail. Its clinical presentation varies widely from a mild lengthening of the oral commissure with preau-ricular skin tag to complete macrostomia extend-ing to the anterior border of the masseter with microtic ear, absence of the parotid gland and duct, and paresis of the cranial nerves V and VII. The skeletal cleft is located at the pterygomaxil-lary junction with various degrees of hypoplasia affecting the middle ear, maxilla, zygoma and mandible.8,10,20,32,51,72

No. 8 Cleft

Commonly associated with other cleft abnor-malities, it originates from the lateral canthus and extends into the temporal region. It divides the facial clefts from the cranial clefts and is con-sidered the cranial extension of cleft No. 6. The skeletal involvement occurs at the frontozygo-matic suture. A dermatocele, a true lateral com-missure coloboma with absence of the lateral canthus, is often observed in Goldenhar syn-drome in conjunction with epibulbar dermoids. The complete from of Treacher Collins syndrome is best described by the bilateral manifestation of clefts No. 6, 7, and 8, the hallmark being an absent zygoma.8,10,20,32,51,72

No. 9 Cleft

This cleft occurs at the superolateral orbit, creat-ing abnormalities of the lateral third of the upper eyelid and eyebrow. The lateral canthus is dis-torted and the superolateral orbital bone defi -

ciency generates a lateral displacement of the globe. Microphthalmia may be present in severe cases. The temporal hairline projects anteriorly.8,10,20,32,51,72

No. 10 Cleft

Cleft No. 10 begins at the middle third of the upper eyelid and eyebrow and extends into the frontal bone. Possible ocular abnormalities include elon-gated palpebral fi ssure, ablepharia, and coloboma. Frontal hair projection, encephalocele, and orbital hypertelorism may be present. It is a cranial exten-sion of facial cleft No. 4.8,10,20,32,51,72

No. 11 Cleft

It connects the medial third of the upper eyelid and eyebrow to the frontal hairline. It corre-sponds to the cranial branch of cleft No. 3. If the ethmoidal labyrinth is disrupted medially, hyperteleorbitism will be noted. However, a path lateral to the ethmoid will result in coloboma of the medial third of the upper eyelid with disrup-tion of the corresponding supraorbital rim and frontal hairline.8,10,20,32,51,72

No. 12 Cleft

Cleft No. 12 is located medial to the medial can-thus with superior extension within the medial eyebrow margin. It is a continuation of cleft No. 2. The cleft travels through the frontal process of the maxilla and the ethmoid superiorly, increas-ing the transverse dimension of the ethmoid laby-rinth, which leads to hyperteleorbitism. However, the cribriform plate remains intact.8,10,20,32,51,72

No. 13 Cleft

Cleft No. 13 extends through the olfactory groove with widening of the cribriform plate in the transverse dimension, creating hyperteleorbitism and dystopia. A paramedian frontal encephalo-cele would be located between the nasal bone and the frontal process of the maxilla. It represents the extension of cleft No. 1.8,10,20,32,51,72

No. 14 Cleft

Cleft No. 14 is a midline cranial cleft equivalent to that of facial cleft No. 0 accompanied by abnor-malities within the central nervous system. Both of these clefts can be associated with tissue excess or defi ciency. Hypoteleorbitism and microcephalic cranium occur with tissue defi ciency commonly


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seen with the holoprosencephalic disorders, which encompass cyclopia, ethmocephaly, and cebocephaly. Holoprosen cephaly results from the incomplete septation of the anterior portion of the neural tube into the cerebral hemispheres, thereby creating a single forebrain.10 Forebrain anomalies are typically proportional to the degree of facial malformations. In general, due to severe brain abnormalities, holoprosen-cephaly is incompatible with life. In the more commonly seen cases of tissue excess, hypertele-orbitism and fl attening of the frontal region, especially the glabella, are produced by a variety of midline protuberances, such as the median frontal, frontonasal, or frontoethmoidal enceph-alocele. The crista galli may be widened, duplicated, or absent.8,10,20,32,51,72

No. 30 Cleft

The caudal extension of the clefts No. 0 and 14, this median cleft of the lower jaw is located between the central incisors, extending into the mandibular symphysis. Similar to the other clefts, a wide spectrum of severity is seen from a small notch of the lower lip to a true cleft involv-ing the entire mandible, with malformation of neck structures. Several tongue anomalies have been reported, such as agenesis, bifi dity, and ankyloglossia.8,10,20,32,51,72

Treatment

Specifi c details regarding the complex recon-struction of these rare facial clefts are beyond the scope of this chapter. However, surgical objectives include the following: (1) functional reconstruction of the macrostomia; (2) recon-struction of the eyelid soft tissue to prevent globe exposure; (3) separation of the confl uent oral, nasal, and orbital cavities; and (4) aesthetic correction of the deformity.26

Attention should be directed fi rst to soft tissue closure and cranial defect correction during the fi rst year of life.49 The scar within the cleft should be excised up to normal tissue followed by lay-ered closure of the soft tissue. Emergent proce-dure in the neonatal period should be reserved for functional problems such as globe exposure to prevent corneal ulceration. The facial and cra-nial skeleton frequently requires reconstruction and grafting, which is best performed once the child is older, approximately 6–9 years of age.49

Correction of maxillomandibular anomalies with orthognathic surgery should be initiated once skeletal maturity has been achieved; approxi-mately 15 years of age in female and 17 years of age in male.58 Cessation of growth of the cranio-facial structures can be correlated with axial skel-etal growth, by either hand fi lms to determine epiphyseal plate closure or serial cephalometric analysis. The preferred method involves serial cephalometric radiograph at 6-month intervals to assess the relative movement of the mid face or mandible relative to the cranial base.

Craniofacial Microsomia (Hemifacial Microsomia)Craniofacial microsomia, also known as fi rst and second branchial arch syndrome, refers to a wide spectrum of complex skeletal and soft tissue anomalies derived from the embryonic fi rst and second branchial arches.22,65 Gorlin and Pindborg21 popularized the term hemifacial microsomia; however, this term implies that the disorder is unilateral and limited to the face. Its bilaterality has been noted in 5–30% of cases.52,62 The inci-dence has been reported as approximately 1 in 5,000 live births.22,54 It is the second most com-mon facial birth defect after cleft lip and palate.47 The etiology is believed to be a vascular insult to the stapedial artery, resulting in hemorrhage and hematoma in the developing fi rst and sec-ond branchial arches.53,54 The majority of cases are sporadic, although an autosomal dominant transmission has been observed in fi rst-degree relatives.23,50,57,60,63,67–70 Patients with autosomal dominant inheritance are more often bilaterally affected than patients with sporadic occurrence.71

The broad clinical manifestation of craniofa-cial microsomia includes varying degrees of underdevelopment in the mandible, zygoma, maxilla, temporal bone, external and middle ear, muscles of facial expression, muscles of mastica-tion (masseter, temporalis, medial, and lateral pterygoids), palatal muscles, tongue, parotid gland, and cranial nerves, especially the facial nerve.22 Also contributing to the overall cheek hypoplasia is the commonly observed macrosto-mia or clefting through the oral commissure that correlates to cleft No. 7.

Varying degrees of hypoplasia of the mandible observed in craniofacial microsomia proportionally


259

affect the maxillary growth on the distorted side.30,31 This ipsilateral maxillomandibular hypoplasia results in dental malocclusion and upward occlusal cant (rotation of the occlusal plane in the frontal view) and contributes to deviation of the chin to the affected side (Figure 19.3).

Several classifi cation systems have been elab-orated in attempts to standardize the reporting of craniofacial microsomia to facilitate diagno-sis, clinical analysis, and treatment planning. However, investigators are still faced with a chal-lenging task considering the complexity and heterogenecity of this disorder.

Pruzansky55 proposed a classifi cation that was later modifi ed by Mulliken and Kaban30,44 to describe and determine treatment protocols for mandibular defi ciency. The subdivision of type II relates to the functionality of the temporo-mandibular joint (TMJ) (Table 19.1).

The auricular deformity of craniofacial microsomia was graded by Meurman.41 In grade I,

a hypoplastic auricle with all components present; grade II is characterized by the absence of the external auditory canal and varying hypoplasia of the concha; and in grade III an absent auricle is seen with an abnormally shaped and malposi-tioned lobule.

More inclusive classifi cations include the SAT, a multisystem classifi cation. The acronym stands for S = skeletal; A = auricle; and T = soft tissue.8 The physical manifestations are graded according to fi ve levels of skeletal deformity (S1–S5), four levels of auricular deformity (A0–A3), and three levels of soft tissue deformity (T1–T3). OMENS, later revised to OMENS-Plus (indicates presence of extracranial anomalies – skeletal, cardiac, central nervous system, pul-monary, gastrointestinal, and renal), offers another multisystem classifi cation attempting to grade this disorder according to the dysmor-phic severity of these fi ve clinical features on a scale from 0 to 3: orbit asymmetry, mandibular hypoplasia, ear deformity, nerve dysfunction, and soft tissue defi ciency.25,76 These two classifi -cations include elements of the previously described Pruzansky (Kaban modifi cation) and Meurman classifications with minor modifi cations.

Surgical correction should be individualized to the patient and ideally be performed in stages.6,30

Figure 19.3. Facial asymmetry and chin deviation secondary to right mandibular hypoplasia in an 18-year-old boy with craniofacial microsomia.

Table 19.1 Mulliken and Kaban skeletal classifi cation of hemifacial classifi cation.

Type I Small mandible and glenoid fossa with mild hypoplasia of the ramus (mini mandible)

Type II Short and abnormally shaped mandible

A Glenoid fossa-condyle relationship is maintained (functional TMJ)

B Abnormal glenoid fossa-condyle relationship (nonfunctional TMJ)

Type III Complete absence of the ramus, glenoid fossa, and TMJ


260

Macrostomia repair by commissuroplasty and preauricular skin tags excision are performed in the fi rst 2 years of life. Distraction osteogenesis of the severely hypoplastic mandible may be necessary in cases of airway compromise.40

The mandible is reconstructed according to the Kaban modifi cation classifi cation. In chil-dren with mild type I deformity, observation during growth and orthognathic surgery at skel-etal maturity are recommended. Distraction osteogenesis may be considered in patients older than 2 years of age with obvious facial deformity secondary to a more pronounced hypoplasia of the ramus such as that in types I and IIA.42,44 In patients with a type IIB and III mandible,45,47 the absent ramus, condyle, zygoma, glenoid fossa, and TMJ are reconstructed with a costochondral rib graft usually before the age of 5 years. Generally, craniofacial microsomia patients would require orthodontic treatment to control eruption and malocclusion during their adoles-cent years. This is usually followed by bimaxillary surgery at skeletal maturity to correct skeletal asymmetry and bone grafting to the defi cient portions of the craniofacial skeleton.46

Auricular reconstruction is preferably delayed until 8 years of age when the ear has reached more than 85% of its full size.15 This is especially

true in the case of microtia where a mature cos-tochondral graft of suffi cient size is to be used as an ear cartilage framework. Although growth of the reconstructed microtic ears has been docu-mented eliminating this concern,1,69 very few patients show evidence of signifi cant psycholog-ical issues regarding the abnormal appearance of their ears before 5 or 6 years of age.

Following skeletal reconstruction, soft tissue augmentation to improve form is accomplished either with autologous fat grafting or microsurgi-cal free tissue transfer9,36,39,43,73 (Figure 19.4a and b).

Goldenhar Syndrome (Oculoauriculovertebral Dysplasia)In 1952, Goldenhar described three cases of mandibulofacial dysostosis associated with epibulbar dermoids, auricular appendages, and pretragal fi stulas.19 Goldenhar syndrome has features similar to those of craniofacial microso-mia. The clinical presentation is typically bilat-eral. In addition, it demonstrates epibulbar dermoids and vertebral anomalies including fused and/or hemivertebrae.5,21 It is now commonly

a b

Figure 19.4. (a) 18-year-old female with craniofacial microsomia. (b) One-year postoperative view following autologous fat injection to improve right facial soft tissue contours. (Courtesy of Dr. D. Medalie.)


261

considered to be part of the craniofacial microsomia continuum (Figure 19.5a through c). Its occur-rence is usually sporadic, although some genetic tendencies have been reported.5,34

Treacher Collins Syndrome (Mandibulofacial Dysostosis)Originally described by Berry in 1889, Treacher Collins is an autosomal dominant disorder with a variable degree of penetrance. Abnormal bilat-eral fi rst and second branchial arch development is due to a mutation in the TCOF 1 gene, which has been mapped to the long arm of chromo-some 5, more precisely 5q31.3–5q33.3 gene locus.12,27 Despite its wide phenotypic expres-sion, bilateral and symmetrical presentations are

a key feature of this craniofacial anomaly. The incidence is estimated to be 1 in 10,000 live births.20

As previously mentioned, the complete form of Treacher Collins32,72 represents a bilateral occurrence of clefts No. 6, 7, and 8, whereas the incomplete type is equivalent to cleft No. 6.

Clinical features include hypoplastic zygoma and mandible, coloboma, antimongoloid slant, external and middle ear deformities, macrosto-mia, broad midnasal dorsal hump, convex pro-fi le, and low-lying hairline, and one-third have a palatal cleft (Figure 19.6a and b). Intelligence is typically normal.

The Pierre Robin sequence can be associated with Treacher Collins syndrome.4 This sequence describes an association of micrognathia (hyp-oplastic mandible), glossoptosis, and cleft palate16,56,59 (Figure 19.7a and b). These patients may experience feeding and respiratory diffi culties

a b c

Figure 19.5. (a) Severe bilateral mandibular hypoplasia in this 3-week-old boy with Goldenhar syndrome. (b) Right microtia characterized by an abnormally shaped and anteriorly positioned lobule. (c) Left preauricular appendage and atresia of the external auditory canal.

a b

Figure 19.6. (a) A 2-year-old patient with Treacher Collins syndrome. Note the absence of medial lower eyelashes. (b) A convex profi le is observed secondary to hypoplasia of the zygoma, maxilla, and mandible.


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potentially leading to failure to thrive, life-threat-ening airway obstruction, and cardiac death.

Treacher Collins syndrome shares many char-acteristics with craniofacial microsomia; however, it can be distinguished on the basis of heredity, colobomas of the eyelids, antimongoloid slant, absence of medial lower eyelashes, and absence of antegonial notching of the mandible.7,22,38

The paramount concern with Treacher Collins patients is airway management. Lifesaving tra-cheostomy is often required secondary to marked reduction of the airway passage and extreme retrusion of the mandible. Other inter-ventions include lip–tongue adhesion, distrac-tion osteogenesis, or conservative measures such as prone positioning, especially during feeding.11,35

Reconstruction of Treacher Collins syn-drome is focused toward skeletal hypoplasia, involving the maxilla, mandible, and zygoma, as well as the soft tissue defects of the eye and ear. Eyelid coloboma must be corrected early on to prevent exposure keratopathy. Auricular reconstruction is challenging because of the low hairline, with tongue-shaped caudal exten-sions in the preauricular region. Furthermore, middle ear reconstruction is generally not attempted in this syndrome secondary to the degree of severity. Hearing aids are often neces-sary to allow normal speech development and production.

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