| Literature DB >> 21910232 |
Teresa Aravena1, Cristóbal Passalacqua, Oscar Pizarro, Mariana Aracena.
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.Entities:
Mesh:
Year: 2011 PMID: 21910232 DOI: 10.1002/ajmg.a.34204
Source DB: PubMed Journal: Am J Med Genet A ISSN: 1552-4825 Impact factor: 2.802