Portal de Periódicos da CAPES

Craniosynostosis

2011; Springer Nature; Volume: 19; Issue: 4 Linguagem: Inglês

10.1038/ejhg.2010.235

1476-5438

David Johnson, Andrew O.M. Wilkie,

dental development and anomalies

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.