Orofacial features of Treacher Collins syndrome.
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.
Martelli-Junior
Hercílio
H
Department of Oral Diagnosis, Dental School, State University of Campinas, São Paulo, Brazil.
Coletta
Ricardo D
RD
Miranda
Roseli-Teixeira
RT
Barros
Letízia-Monteiro de
LM
Swerts
Mário-Sérgio
MS
Bonan
Paulo-Rogério
PR
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis*; D009056:Mouth Abnormalities / Q000175:diagnosis*; D010641:Phenotype; D055815:Young Adult