Cervical Spine in treacher collins syndrome

Amy Hoi Ying Pun, Bruce Eric Clark, David John David, Peter John Anderson*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

7 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)e218-e220
Number of pages3
JournalJournal of Craniofacial Surgery
Issue number3
Publication statusPublished - May 2012
Externally publishedYes


  • Cervical spine
  • mandibulofacial dysostosis
  • Treacher Collins syndrome


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