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Semin Plast Surg 2012; 26(02): 083-090
DOI: 10.1055/s-0032-1320066
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Treacher Collins Syndrome

Christopher C. Chang
1   Section of Plastic Surgery, Yale University School of Medicine, New Haven, Connecticut
,
Derek M. Steinbacher
1   Section of Plastic Surgery, Yale University School of Medicine, New Haven, Connecticut
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Publikationsdatum:
12. Juli 2012 (online)

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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

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

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