Hospital Clínico Universidad de Chile, Santiago, Chile.
Am J Med Genet A. 2011 Oct;155A(10):2552-5. doi: 10.1002/ajmg.a.34204. Epub 2011 Sep 9.
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.
Gorlin-Chaudhry-Moss 综合征（GCMS）最初由 Gorlin 等人描述[Gorlin 等人（1960）]，涉及两名颅缝早闭、多毛症、大阴唇发育不全、牙齿缺陷、眼部异常、动脉导管未闭但智力正常的姐妹。另外还有两个散发病例。在这里，我们报告了两例具有某些与 GCMS 相似之处和一些差异的姐妹病例，这可能代表 GCMS 的先前未报道的变异性，也可能代表一种新的疾病。
