2. Academic Validation
  3. Craniosynostosis

Craniosynostosis

  • Eur J Hum Genet. 2011 Apr;19(4):369-76. doi: 10.1038/ejhg.2010.235.
David Johnson 1,  Andrew O M Wilkie
Affiliations

Affiliation

  • 1 Oxford Craniofacial Unit, Oxford Radcliffe Hospitals NHS Trust, John Radcliffe Hospital, Oxford, UK.
PMID: 21248745 DOI: 10.1038/ejhg.2010.235
Abstract

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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