Craniosynostosis

Journal article

Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in classification and treatment. At least 20% of cases are caused by specific single gene mutations or chromosome abnormalities. This article maps out approaches to clinical assessment of a child presenting with an unusual head shape, and illustrates how genetic analysis can contribute to diagnosis and management. © 2011 Macmillan Publishers Limited All rights reserved.

Authors: Johnson, D; Wilkie, A

• Journal: European Journal of Human Genetics
• Volume: 19
• Issue: 4
• Pages: 369-376
• Publication date: 2011-04-01
• DOI: 10.1038/ejhg.2010.235
• EISSN: 1476-5438
• ISSN: 1018-4813
• Language: English
• Keywords: FGFR; TWIST; craniosynostosis