Ablepharon-Macrostomia syndrome--extension of the phenotype
| Autor: | Elaine H. Zackai, James A. Katowitz, Mieke M. van Haelst, Scott P. Bartlett, Staci Kallish, Donna M. McDonald-McGinn |
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| Přispěvatelé: | Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Other departments |
| Jazyk: | angličtina |
| Rok vydání: | 2011 |
| Předmět: |
media_common.quotation_subject
Abnormal ears Ablepharon macrostomia syndrome Genetics Medicine Humans Abnormalities Multiple Eye Abnormalities Genetics (clinical) media_common Daughter Macrostomia business.industry Infant Newborn Facies Anatomy Commissure medicine.disease Phenotype Redundant folds Ambiguous genitalia Female business Coarse skin |
| Zdroj: | Kallish, S, McDonald-McGinn, D M, van Haelst, M M, Bartlett, S P, Katowitz, J A & Zackai, E H 2011, ' Ablepharon-Macrostomia syndrome--extension of the phenotype ', American Journal of Medical Genetics Part A, vol. 155A, no. 12, pp. 3060-2 . https://doi.org/10.1002/ajmg.a.34287 American Journal of Medical Genetics Part A, 155A(12), 3060-2. Wiley-Liss Inc. American journal of medical genetics. Part A, 155A(12), 3060-3062. Wiley-Liss Inc. |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.34287 |
| Popis: | AblepharonMacrostomia syndrome (AMS) is a rare collection of findings characterized by absent or hypoplastic eyelids, fusion defects of the mouth with unfused lateral commissures, abnormal ears, ambiguous genitalia, skin differences including dry and coarse skin or redundant folds of skin, and developmental delay. Fewer than 20 patients have been reported to date. These include a parent and two children and a recent report of a father and daughter, therefore suggesting autosomal dominant inheritance. Here we present one additional sporadic case with an expanded phenotype. This patient has more significant hand and foot anomalies than previously reported. (C) 2011 Wiley Periodicals, Inc |
| Databáze: | OpenAIRE |
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