Orofacial features of Treacher Collins syndrome

Abstract

Treacher Collins syndrome (TCS) is a rare autosomal dominant disorder of craniofacial development. Major features include midface hypoplasia, micrognathia, microtia, conductive hearing loss, and cleft palate. The present study is on the orofacial features of 7 Brazilian patients with sporadic TCS aged 4 to 38 years. All patients presented the typical down-slanting palpebral fissures, colobomas, zygomatic and mandibular hypoplasia, partial absence of the lower eyelid cilia, and abnormalities of the ears. Malocclusion was present in all patients, and an anterior open bite was found in 3 patients. None of the patients had a cleft palate.