title: Clinical and imaging correlations of Treacher Collins syndrome: report of two cases.
abstract: Mandibulofacial dysostosis (Treacher Collins Syndrome) is an autosomal dominant genetic disorder that probably derives from inhibition of the facial structures from the first and second branchial arches. The facial pattern of the syndrome is a convex facial profile with a prominent nose above a retruded chin. The eyes are deformed by antimongoloid slant of the palpebral fissures and facial bones are hypoplastic. The alterations are caused by mutation in gene 5q32-33.1, which encodes the nucleolar phosphoprotein treacle. Computed tomography images are able to demonstrate craniofacial bones, allowing the morphological analysis of these bones in individuals with complex deformities. The purpose of this paper is to present the results of a clinical and computed tomography investigation of two patients with Treacher Collins syndrome.
authors.affiliation: Dentistry School, University of São Paulo, São Paulo, SP, Brazil. mhcgmaga@usp.br <mhcgmaga@usp.br>
authors.forename: Marina H C G
authors.initials: MH
authors.lastname: Magalhães
authors.forename: Cristiane Barbosa
authors.initials: CB
authors.lastname: da Silveira
authors.forename: Carla Ruffeil
authors.initials: CR
authors.lastname: Moreira
authors.forename: Marcelo Gusmão Paraíso
authors.initials: MG
authors.lastname: Cavalcanti
mesh_terms: D000293:Adolescent; D002648:Child; D005147:Facial Bones / Q000002:abnormalities / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000000981:diagnostic imaging* / Q000473:pathology; D014057:Tomography, X-Ray Computed