Two sisters resembling Gorlin-Chaudhry-Moss syndrome

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / pathology*
  • Craniofacial Abnormalities / pathology*
  • Ductus Arteriosus, Patent / pathology*
  • Fatal Outcome
  • Female
  • Growth Disorders
  • Humans
  • Hypertrichosis / pathology*
  • Progeria
  • Skull / diagnostic imaging
  • Tomography, X-Ray Computed

Supplementary concepts

  • Progeroid Syndrome, Congenital, Petty Type