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
  • 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.