Ectrodactyly/split hand feet malformation

Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal rece...

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Detalles Bibliográficos
Autores principales: Jindal, Geetanjali, Parmar, Veena R., Gupta, Vipul Kumar
Formato: Texto
Lenguaje:English
Publicado: Medknow Publications 2009
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2922631/
https://www.ncbi.nlm.nih.gov/pubmed/21088720
http://dx.doi.org/10.4103/0971-6866.60191
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author Jindal, Geetanjali
Parmar, Veena R.
Gupta, Vipul Kumar
author_facet Jindal, Geetanjali
Parmar, Veena R.
Gupta, Vipul Kumar
author_sort Jindal, Geetanjali
collection PubMed
description Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.
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spelling pubmed-29226312010-11-18 Ectrodactyly/split hand feet malformation Jindal, Geetanjali Parmar, Veena R. Gupta, Vipul Kumar Indian J Hum Genet Case Report Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation. Medknow Publications 2009 /pmc/articles/PMC2922631/ /pubmed/21088720 http://dx.doi.org/10.4103/0971-6866.60191 Text en © Indian Journal of Human Genetics http://creativecommons.org/licenses/by/2.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Jindal, Geetanjali
Parmar, Veena R.
Gupta, Vipul Kumar
Ectrodactyly/split hand feet malformation
title Ectrodactyly/split hand feet malformation
title_full Ectrodactyly/split hand feet malformation
title_fullStr Ectrodactyly/split hand feet malformation
title_full_unstemmed Ectrodactyly/split hand feet malformation
title_short Ectrodactyly/split hand feet malformation
title_sort ectrodactyly/split hand feet malformation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2922631/
https://www.ncbi.nlm.nih.gov/pubmed/21088720
http://dx.doi.org/10.4103/0971-6866.60191
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AT parmarveenar ectrodactylysplithandfeetmalformation
AT guptavipulkumar ectrodactylysplithandfeetmalformation

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