A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene

Pediatr Neurosurg. 2002 Aug;37(2):97-9. doi: 10.1159/000065112.

Abstract

This paper reports a case of Beare-Stevenson cutis gyrata syndrome confirmed by DNA analysis of the patient's fibroblast growth factor receptor (FGFR) genes. At birth, the patient had ocular proptosis, a red nevus with skin tags on her forehead and an umbilical stump. She developed craniosynostosis, craniofacial dysmorphism and hydrocephalus. Her treatment included forehead and facial advancement and a ventriculoperitoneal shunt. Analysis of the FGFR genes revealed that she was heterozygous for a missense mutation in exon 10 for the FGFR2 protein, resulting in an amino acid substitution of cysteine for tyrosine at residue 375 (Tyr375Cys). This is the fourth case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the FGFR genes.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Acanthosis Nigricans / complications*
  • Acanthosis Nigricans / genetics*
  • Acanthosis Nigricans / surgery
  • Anal Canal / abnormalities*
  • Anal Canal / surgery
  • Child, Preschool
  • Craniosynostoses / complications*
  • Craniosynostoses / genetics*
  • Craniosynostoses / surgery
  • DNA Mutational Analysis
  • Female
  • Genitalia, Female / abnormalities*
  • Genitalia, Female / surgery
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Point Mutation / genetics*
  • Receptor Protein-Tyrosine Kinases / genetics
  • Receptor, Fibroblast Growth Factor, Type 1
  • Receptor, Fibroblast Growth Factor, Type 2
  • Receptors, Fibroblast Growth Factor / genetics
  • Syndrome
  • Umbilical Cord / abnormalities*

Substances

  • Receptors, Fibroblast Growth Factor
  • FGFR1 protein, human
  • FGFR2 protein, human
  • Receptor Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 1
  • Receptor, Fibroblast Growth Factor, Type 2