Artículo de revista
Two sisters resembling Gorlin-Chaudhry-Moss syndrome
Fecha
2011Registro en:
American Journal of Medical Genetics, Part A, Volumen 155, Issue 10, 2018, Pages 2552-2555
15524825
15524833
10.1002/ajmg.a.34204
Autor
Aravena, Teresa
Passalacqua, Cristóbal
Pizarro, Oscar
Aracena, Mariana
Institución
Resumen
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.