Two sisters resembling Gorlin–Chaudhry–Moss syndrome

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...

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Veröffentlicht in:American journal of medical genetics. Part A 2011-10, Vol.155 (10), p.2552-2555
Hauptverfasser: Aravena, Teresa, Passalacqua, Cristóbal, Pizarro, Oscar, Aracena, Mariana
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Sprache:eng
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Zusammenfassung: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.
ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.34204