Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation

  • Am J Med Genet A. 2008 Mar 1;146A(5):658-60. doi: 10.1002/ajmg.a.32176.
Renata Fonseca  1 ,  Marcelo A Costa-Lima ,  Viviana Cosentino ,  Iêda M Orioli
Affiliations
  • 1. ECLAMC (Estudo Colaborativo Latino Americano de Malformações Congênitas) at Departamento de Genética, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.
PMID: 18247426 DOI: 10.1002/ajmg.a.32176
Abstract

Beare-Stevenson syndrome is characterized by cutis gyrata, acanthosis nigricans, skin furrows, skin tags, craniosynostosis, Crouzonoid-like features in some cases and cloverleaf skull in Others, anogenital anomalies, and prominent umbilical stump. Reported causes are an FGFR2 Tyr375Cys mutation in nine cases and an FGFR2 Ser372Cys mutation in one case. Here, we report on a second patient with the FGFR2 Ser372Cys mutation.