Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

ABSTRACT:

Objectives

We describe the first cohort-based analysis of the impact of genetic disorders in craniosynostosis. We aimed to refine the understanding of prognoses and pathogenesis and to provide rational criteria for clinical genetic testing.

Methods

We undertook targeted molecular genetic and cytogenetic testing for 326 children who required surgery because of craniosynostosis, were born in 1993-2002, presented to a single craniofacial unit, and were monitored until the end of 2007.

Results

Eighty-four children (and 64 relatives) had pathologic genetic alterations (86% single-gene mutations and 14% chromosomal abnormalities). The FGFR3 P250R mutation was the single largest contributor (24%) to the genetic group. Genetic diagnoses accounted for 21% of all craniosynostos

SUBMITTER: Wilkie AO 

PROVIDER: S-EPMC3535761 | biostudies-literature | 2010 Aug

REPOSITORIES: biostudies-literature