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Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/73476

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.
RMID: 0020122068
DOI: 10.1097/SCS.0b013e31824de3a5
Appears in Collections:Paediatrics publications
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