A novel fibroblast growth factor receptor 2 (FGFR2) mutation associated with a mild Crouzon syndrome.

Crouzon syndrome (CS) is an autosomal dominant disorder characterised by premature fusion of cranial sutures leading to the clinical condition of craniosynostosis, which is usually associated with skull distorsion. Over the past years several mutations in fibroblast growth factor receptor (FGFR) genes 1, 2, 3 have been identified in both syndromic and non-syndromic craniosynostosis; the pathological phenotypes associated with these mutations are subject to a high degree of clinical variability. Most of these mutations have been described in the FGFR2 gene and result in Apert, Crouzon, Jackson-Weiss or Pfeiffer syndromes. Although the mutations associated with these syndromes and their clinical consequences are known, they result in a wide range of phenotypic expressions that make the genotypephenotype correlation more difficult to understand. Here we describe a novel FGFR2 mutation associated with a particularly mild Crouzon phenotype.