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. 2012 May;26(2):83-90.
doi: 10.1055/s-0032-1320066.

Treacher collins syndrome

Christopher C Chang  1 , Derek M Steinbacher
Affiliations

Treacher collins syndrome

Christopher C Chang et al. Semin Plast Surg. 2012 May.

Abstract

Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome.

Keywords: Franceschetti-Klein syndrome; Treacher Collins syndrome; facial clefting; malar hypoplasia; mandibular distraction; mandibulofacial dysostosis; microsomia; microtia.

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Figures

Figure 1
Figure 1
Characteristic findings of Treacher Collins syndrome include downward slanting palpebral fissures, lower eyelid colobomas, midface and zygomatic hypoplasia, microtia, and mandibular microretrognathia. Patients can be fitted with a removable bone-assisted hearing aid to help speech and language development prior to definitive implantation after ear reconstruction.
Figure 2
Figure 2
The Treacher Collins syndrome zygoma can be variable in morphology and volume. Classification of this deformity is based on the presence of all (type I), some (type II), or none (type III) of the normal components and buttresses.
Figure 3
Figure 3
Treacher Collins syndrome patients have a convex facial profile with a “birdlike” appearance due to pronounced retrognathia and a relatively normal nasal projection.
Figure 4
Figure 4
The mandible and temporomandibular joint can be severely affected in Treacher Collins syndrome. Condylar malformation can be the most severely affected portion of the mandible and the normal ramus-angle-body relationship can be totally absent.
Figure 5
Figure 5
Distraction osteogenesis of the Treacher Collins syndrome mandible usually necessitates two vectors of distraction: Inferior bony length and anterior projection are needed. Newer curvilinear distraction devices aim to correct this multivector deficiency.
Figure 6
Figure 6
Auricular reconstruction is performed with autogenous costal cartilage grafts, fabrication of a framework, and staged implant and elevation.
Figure 7
Figure 7
A treatment timeline is presented for surgical considerations and staging throughout the patient's childhood.
See this image and copyright information in PMC

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