Two sisters resembling Gorlin-Chaudhry-Moss syndrome
| Autor: | Cristóbal Passalacqua, Oscar Pizarro, Teresa Aravena, Mariana Aracena |
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| Rok vydání: | 2011 |
| Předmět: |
Hypertrichosis
Fatal outcome Craniosynostosis Craniofacial Abnormalities Hypoplastic labia majora Fatal Outcome Progeria X ray computed Ductus arteriosus Genetics medicine Humans Abnormalities Multiple Ductus Arteriosus Patent Growth Disorders Genetics (clinical) business.industry Gorlin-Chaudhry-Moss syndrome Skull Normal intelligence Anatomy medicine.disease stomatognathic diseases medicine.anatomical_structure Female Tomography X-Ray Computed business |
| Zdroj: | American Journal of Medical Genetics Part A. 155:2552-2555 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.34204 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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