Sacral appendage associated with a mutation in FGFR2.

We report a baby with craniosynostosis and a sacral appendage who has been found to have a Ser351Cys mutation in the fibroblast growth factor receptor 2 gene (FGFR2). This is the first report of sacral appendage associated with a confirmed mutation in one of the FGFR genes, and adds to the spectrum of abnormalities which can be seen in patients with FGFR mutations.