Schilbach–Rott/blepharofacioskeletal syndrome in a Brazilian patient

✍ Scribed by Daniel Rocha de Carvalho; Natalia Freitas Rossi; Silvana Schellini; Danilo Moretti-Ferreira; Antônio Richieri-Costa

• Publisher: John Wiley and Sons
• Year: 2008
• Tongue: English
• Weight: 102 KB
• Volume: 146A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.32428

✦ Synopsis

Abstract

We report on a 4‐year‐old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence that BFSS and Schilbach–Rott syndrome (SRS) are the same condition. © 2008 Wiley‐Liss, Inc.