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https://hdl.handle.net/2440/73476
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Type: | Journal article |
Title: | Cervical spine in Treacher Collins Syndrome |
Author: | Pun, A. Clark, B. David, D. Anderson, P. |
Citation: | Journal of Craniofacial Surgery, 2012; 23(3):E218-e220 |
Publisher: | Lippincott Williams & Wilkins |
Issue Date: | 2012 |
ISSN: | 1049-2275 1536-3732 |
Statement of Responsibility: | Amy Hoi-Ying Pun, Bruce Eric Clark, David John David and Peter John Anderson |
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. |
Keywords: | Cervical spine Treacher Collins syndrome mandibulofacial dysostosis |
Rights: | Copyright © 2012 Mutaz B. Habal, MD. |
DOI: | 10.1097/SCS.0b013e31824de3a5 |
Published version: | http://dx.doi.org/10.1097/scs.0b013e31824de3a5 |
Appears in Collections: | Aurora harvest 5 Paediatrics publications |
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