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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Shahid Beheshti University of Medical Sciences
2014
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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. |
format | Online Article Text |
id | pubmed-4307373 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Shahid Beheshti University of Medical Sciences |
record_format | MEDLINE/PubMed |
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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