title: Cervical spine in Treacher Collins syndrome.
abstract: Treacher Collins syndrome is a congenital syndrome with characteristic craniofacial malformations, which are well described in the literature. However, the presence of cervical spine dysmorphology in this syndrome has been minimally described. This study reviews cervical spine radiographs of 40 patients with Treacher Collins syndrome. In this sample, 7 of 40 patients displayed cervical spine anomalies, with 3 of these patients displaying multiple cervical spine anomalies. The patterns of spinal anomalies were variable, suggesting that the underlying genetic mutation has variable expressivity in cervical spine development as it does elsewhere in the craniofacial skeleton.
authors.affiliation: Department of Medical Imaging, Women's and Children's Hospital, Adelaide, Australia.
authors.forename: Amy Hoi-Ying
authors.initials: AH
authors.lastname: Pun
authors.forename: Bruce Eric
authors.initials: BE
authors.lastname: Clark
authors.forename: David John
authors.initials: DJ
authors.lastname: David
authors.forename: Peter John
authors.initials: PJ
authors.lastname: Anderson
mesh_terms: D000293:Adolescent; D001315:Australia / Q000453:epidemiology; D016022:Case-Control Studies; D002508:Cephalometry; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000150:complications* / Q000000981:diagnostic imaging / Q000453:epidemiology; D014057:Tomography, X-Ray Computed