Familial clustering of a rare syndrome

Ectrodactyly, ectodermal dysplasia and cleft palate syndrome is a rare autosomal dominant multiple congenital anomaly syndrome with variable expressivity and reduced penetration. The cardinal features are cleft palate/lip, lobster hand deformity, sparse hypopigmented hair, dry scaly skin, and lacrim...

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Detalles Bibliográficos
Autores principales: Nadkarni, Jayashree, Ganesh, Hari, Dwivedi, Rashmi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3144684/
https://www.ncbi.nlm.nih.gov/pubmed/21814340
http://dx.doi.org/10.4103/0971-6866.82189
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author Nadkarni, Jayashree
Ganesh, Hari
Dwivedi, Rashmi
author_facet Nadkarni, Jayashree
Ganesh, Hari
Dwivedi, Rashmi
author_sort Nadkarni, Jayashree
collection PubMed
description Ectrodactyly, ectodermal dysplasia and cleft palate syndrome is a rare autosomal dominant multiple congenital anomaly syndrome with variable expressivity and reduced penetration. The cardinal features are cleft palate/lip, lobster hand deformity, sparse hypopigmented hair, dry scaly skin, and lacrimal and urogenital anomalies. A neonate presented to us with typical features, his mother and other two siblings were also affected.
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spelling pubmed-31446842011-08-03 Familial clustering of a rare syndrome Nadkarni, Jayashree Ganesh, Hari Dwivedi, Rashmi Indian J Hum Genet Case Report Ectrodactyly, ectodermal dysplasia and cleft palate syndrome is a rare autosomal dominant multiple congenital anomaly syndrome with variable expressivity and reduced penetration. The cardinal features are cleft palate/lip, lobster hand deformity, sparse hypopigmented hair, dry scaly skin, and lacrimal and urogenital anomalies. A neonate presented to us with typical features, his mother and other two siblings were also affected. Medknow Publications 2011 /pmc/articles/PMC3144684/ /pubmed/21814340 http://dx.doi.org/10.4103/0971-6866.82189 Text en © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Nadkarni, Jayashree
Ganesh, Hari
Dwivedi, Rashmi
Familial clustering of a rare syndrome
title Familial clustering of a rare syndrome
title_full Familial clustering of a rare syndrome
title_fullStr Familial clustering of a rare syndrome
title_full_unstemmed Familial clustering of a rare syndrome
title_short Familial clustering of a rare syndrome
title_sort familial clustering of a rare syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3144684/
https://www.ncbi.nlm.nih.gov/pubmed/21814340
http://dx.doi.org/10.4103/0971-6866.82189
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