Journal of Craniofacial Surgery · 2012 · 12 citations · 7 references
MedicineCraniofacial BiologyRadiologyCraniofacial GeneticsCraniofacial GrowthRadiographic AnatomyCongenital Craniofacial AnomaliesCongenital Malformation PathologyCongenital Musculoskeletal DisordersCraniofacial AnomaliesCraniosynostosis GeneticsPediatric Spine DeformityCervical Spine AnatomyCervical Spine DisordersCongenital Cervical Vertebral AnomaliesCongenital Spinal AnomaliesCongenital Spinal MalformationsCongenital Spine DisordersCongenital Vertebral AnomaliesVariable Expressivity
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.
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