| Literature DB >> 23633935 |
Christopher C Chang1, Derek M Steinbacher.
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.Entities:
Keywords: Franceschetti-Klein syndrome; Treacher Collins syndrome; facial clefting; malar hypoplasia; mandibular distraction; mandibulofacial dysostosis; microsomia; microtia
Year: 2012 PMID: 23633935 PMCID: PMC3424693 DOI: 10.1055/s-0032-1320066
Source DB: PubMed Journal: Semin Plast Surg ISSN: 1535-2188 Impact factor: 2.314