Two sisters resembling Gorlin–Chaudhry–Moss syndrome

✍ Scribed by Teresa Aravena; Cristóbal Passalacqua; Oscar Pizarro; Mariana Aracena

• Publisher: John Wiley and Sons
• Year: 2011
• Tongue: English
• Weight: 326 KB
• Volume: 155
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.34204

✦ Synopsis

Abstract

The Gorlin–Chaudhry–Moss syndrome (GCMS), was describe initially by Gorlin et al. [Gorlin et al. (1960)] in two sisters with craniosynostosis, hypertrichosis, hypoplastic labia majora, dental defects, eye anomalies, patent ductus arteriosus, and normal intelligence. Two other sporadic instances have been documented. Here, we report on two sisters with a condition with some similarities to GCMS as well as some differences, which could represent either previously unreported variability in GCMS, or it may represent a novel disorder. © 2011 Wiley‐Liss, Inc.