title: Sacral appendage associated with a mutation in FGFR2.
abstract: 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.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Sweeney
authors.forename: Ian
authors.initials: I
authors.lastname: Ellis
authors.forename: Paul
authors.initials: P
authors.lastname: May
mesh_terms: D003398:Craniosynostoses / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D012447:Sacrum / Q000002:abnormalities*
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2