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Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia

Bart’s syndrome is defined as congenital localized absence of skin, and associated with epidermolysis bullosa. A newborn with Bart’s syndrome is reported because it is a very rare condition, especially when associated with corpus callosum agenesis and concomitant choanal atresia. Clinically it is ch...

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Detalles Bibliográficos
Autores principales: SAEED, Muhammad, HAQ, Anwar ul, QADIR, Khaqan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Shahid Beheshti University of Medical Sciences 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307373/
https://www.ncbi.nlm.nih.gov/pubmed/25657775
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author SAEED, Muhammad
HAQ, Anwar ul
QADIR, Khaqan
author_facet SAEED, Muhammad
HAQ, Anwar ul
QADIR, Khaqan
author_sort SAEED, Muhammad
collection PubMed
description Bart’s syndrome is defined as congenital localized absence of skin, and associated with epidermolysis bullosa. A newborn with Bart’s syndrome is reported because it is a very rare condition, especially when associated with corpus callosum agenesis and concomitant choanal atresia. Clinically it is characterized by raw beefy areas of denuded skin mainly on hands and feet. We report a rare case of a term female newborn born to non-consanguineous parents who presented with congenital absence of skin in, face, trunk and extremities. To the best of our knowledge, this is the first report presenting a case of Bart’s syndrome associated with corpus callosum agenesis.
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spelling pubmed-43073732015-02-05 Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia SAEED, Muhammad HAQ, Anwar ul QADIR, Khaqan Iran J Child Neurol Case Report Bart’s syndrome is defined as congenital localized absence of skin, and associated with epidermolysis bullosa. A newborn with Bart’s syndrome is reported because it is a very rare condition, especially when associated with corpus callosum agenesis and concomitant choanal atresia. Clinically it is characterized by raw beefy areas of denuded skin mainly on hands and feet. We report a rare case of a term female newborn born to non-consanguineous parents who presented with congenital absence of skin in, face, trunk and extremities. To the best of our knowledge, this is the first report presenting a case of Bart’s syndrome associated with corpus callosum agenesis. Shahid Beheshti University of Medical Sciences 2014 /pmc/articles/PMC4307373/ /pubmed/25657775 Text en This is an Open Access article distributed under the terms of the Creative Commons Attribution License, (http://creativecommons.org/licenses/by/3.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
SAEED, Muhammad
HAQ, Anwar ul
QADIR, Khaqan
Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia
title Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia
title_full Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia
title_fullStr Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia
title_full_unstemmed Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia
title_short Bart’s Syndrome Associated Corpus Callosum Agenesis and Choanal Atresia
title_sort bart’s syndrome associated corpus callosum agenesis and choanal atresia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307373/
https://www.ncbi.nlm.nih.gov/pubmed/25657775
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