Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 19, Issue 4, Pages 369-376Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2010.235
Keywords
craniosynostosis; FGFR; TWIST
Funding
- Wellcome Trust
- Medical Research Council
- EPA
- Oxford Partnership Comprehensive Biomedical Research Centre
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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.
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