Sacral appendage associated with a mutation in FGFR2

Clin Dysmorphol. 2002 Jul;11(3):221-2. doi: 10.1097/00019605-200207000-00016.

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.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Craniosynostoses / pathology
  • Humans
  • Infant, Newborn
  • Male
  • Mutation*
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Receptor, Fibroblast Growth Factor, Type 2
  • Receptors, Fibroblast Growth Factor / genetics*
  • Sacrum / abnormalities*

Substances

  • Receptors, Fibroblast Growth Factor
  • FGFR2 protein, human
  • Receptor Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 2