Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation

Am J Med Genet A. 2008 Jan 15;146A(2):212-8. doi: 10.1002/ajmg.a.32085.

Abstract

We present prenatal and postnatal features of a patient with severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). Mutation analysis confirmed the clinical diagnosis by detecting the FGFR3 Lys650Met mutation. This case, one of only six with molecular analysis reported in the literature, confirms the severe morbidity and adds to the reports with early mortality associated with SADDAN. Clinical-radiological characteristics of all reported cases of SADDAN are reviewed and discussed.

Publication types

  • Case Reports

MeSH terms

  • Acanthosis Nigricans / diagnosis*
  • Acanthosis Nigricans / genetics
  • Achondroplasia / diagnosis*
  • Achondroplasia / genetics
  • Amino Acid Substitution*
  • Developmental Disabilities / diagnosis
  • Developmental Disabilities / genetics
  • Female
  • Fetus / abnormalities
  • Humans
  • Infant, Newborn
  • Lysine / genetics
  • Male
  • Methionine / genetics
  • Mutation, Missense
  • Pregnancy
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics*
  • Ultrasonography, Prenatal

Substances

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