Achondroplasia with synostosis of multiple sutures

Am J Med Genet A. 2011 Aug;155A(8):1969-71. doi: 10.1002/ajmg.a.33744. Epub 2011 Jul 7.

Abstract

We report for the second time on a case of achondroplasia with synostosis of multiple sutures. The most common mutation for achondroplasia (FGFR3 Gly380Arg, resulting in 1138G>A) was identified. Imaging studies disclosed complex craniosynostosis and neurosurgical intervention was carried out, particularly for posterior plagiocephaly.

Publication types

  • Case Reports

MeSH terms

  • Achondroplasia / complications*
  • Achondroplasia / genetics
  • Craniosynostoses / complications*
  • Craniosynostoses / surgery
  • Female
  • Humans
  • Infant
  • Mutation, Missense
  • Premature Birth
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics

Substances

  • FGFR3 protein, human
  • Receptor, Fibroblast Growth Factor, Type 3