Coronal synostosis (isolated)

Coronal synostosis (isolated) describes a group of phenotypes with unilateral or bicoronal craniosynostosis, with otherwise normal skeletal features of the extremities and normal intellect. It results from sporadic mutations in the FGFR2 or FGFR3 genes, with incomplete penetrance, as the same mutation can lead to either bilateral or unilateral coronal synostosis.

We perform automated bi-directional fluorescent DNA sequencing of exons 8 and 10 of the FGFR2 gene and of exon 7 of the FGFR3 gene, but clinical sensitivity is rather low (<60%).