Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand, or lobster...

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Autores principales: Sharma, Deepak, Kumar, Chetan, Bhalerao, Sanjay, Pandita, Aakash, Shastri, Sweta, Sharma, Pradeep
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2015
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468833/
https://www.ncbi.nlm.nih.gov/pubmed/26137453
http://dx.doi.org/10.3389/fped.2015.00051
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author Sharma, Deepak
Kumar, Chetan
Bhalerao, Sanjay
Pandita, Aakash
Shastri, Sweta
Sharma, Pradeep
author_facet Sharma, Deepak
Kumar, Chetan
Bhalerao, Sanjay
Pandita, Aakash
Shastri, Sweta
Sharma, Pradeep
author_sort Sharma, Deepak
collection PubMed
description Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis.
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spelling pubmed-44688332015-07-01 Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination Sharma, Deepak Kumar, Chetan Bhalerao, Sanjay Pandita, Aakash Shastri, Sweta Sharma, Pradeep Front Pediatr Pediatrics Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand, or lobster claw hand/foot. We report first case of EEC with associated heart disease (Tetralogy of Fallot) who was diagnosed as EEC on the basis of clinical features and EEC was confirmed with genetic analysis. Frontiers Media S.A. 2015-06-16 /pmc/articles/PMC4468833/ /pubmed/26137453 http://dx.doi.org/10.3389/fped.2015.00051 Text en Copyright © 2015 Sharma, Kumar, Bhalerao, Pandita, Shastri and Sharma. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Sharma, Deepak
Kumar, Chetan
Bhalerao, Sanjay
Pandita, Aakash
Shastri, Sweta
Sharma, Pradeep
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination
title Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination
title_full Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination
title_fullStr Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination
title_full_unstemmed Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination
title_short Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination
title_sort ectrodactyly, ectodermal dysplasia, cleft lip, and palate (eec syndrome) with tetralogy of fallot: a very rare combination
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4468833/
https://www.ncbi.nlm.nih.gov/pubmed/26137453
http://dx.doi.org/10.3389/fped.2015.00051
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