Clinical and imaging correlations of Treacher Collins syndrome: Report of two cases

• Published in: Oral surgery, oral medicine, oral pathology, oral radiology and endodontics Vol. 103; no. 6; pp. 836 - 842
• Main Authors: Magalhães, Marina H.C.G., DDS, PhD, Barbosa da Silveira, Cristiane, Moreira, Carla Ruffeil, DDS, MSc, Cavalcanti, Marcelo Gusmão Paraíso, DDS, PhD
• Format: Journal Article
• Language: English
• Published: St. Louis, MO Mosby, Inc 01-06-2007; Elsevier
• Subjects: Adolescent; Biological and medical sciences; Child; Dentistry; Diseases of the osteoarticular system; Facial Bones - abnormalities; Facial Bones - diagnostic imaging; Female; Humans; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Mandibulofacial Dysostosis - diagnostic imaging; Mandibulofacial Dysostosis - pathology; Medical sciences; Otorhinolaryngology. Stomatology; Surgery; Tomography, X-Ray Computed; Case study; Treacher-Collins syndrome; Malformation; Stomatology; Diseases of the osteoarticular system; Face; Mandibulofacial dysostosis; Genetic disease; Maxillary disease
• ISSN: 1079-2104; 1528-395X
• DOI: 10.1016/j.tripleo.2006.04.011

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.