Beare-Stevenson syndrome: Two south american patients with FGFR2 analysis

✍ Scribed by Rosa Andrea Pardo Vargas; Gustavo Henrique Boff Maegawa; Silvia Castillo Taucher; Júlio César L. Leite; Patricia Sanz; Juan Cifuentes; Mauro Parra; Hernán Muñoz; Carlos Magno Maranduba; Maria R. Passos-Bueno

• Publisher: John Wiley and Sons
• Year: 2003
• Tongue: English
• Weight: 149 KB
• Volume: 121A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.20101

✦ Synopsis

Abstract

We report two patients with Beare‐Stevenson syndrome. This syndrome presents craniosynostosis with or without clover‐leaf skull, craniofacial anomalies, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, genital and anal anomalies. Both female newborn patients presented at birth with craniofacial anomalies, variable cutis gyrata in forehead and preauricular regions, prominent umbilical stump and anogenital anomalies. Furrowed palms and soles were also observed. The radiologic examination showed a cloverleaf‐form craniosynostosis. Chromosomes were normal. They were born with respiratory distress and were connected to mechanical ventilation for ventilatory support. Both of them died in 50 days after birth due to secondary complications. The molecular analysis of these patients identified the mutation Tyr375Cys in the FGFR2 gene. © 2003 Wiley‐Liss, Inc.