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Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association
Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder that causes abnormalities of the upper limbs and heart. It is seen in 1:1, 00, 000 live births. It is linked to a single-gene TBX5 “protein-producing” mutation with gene map locus 12q24. Most commonly it is characterized by the cardiac s...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879802/ https://www.ncbi.nlm.nih.gov/pubmed/27293527 http://dx.doi.org/10.4103/1995-705X.182644 |
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author | Rodagi, Sunil B. Surana, Snehal S. Potdar, Vijaykumar R. Kirdi, Sharanbasav S. |
author_facet | Rodagi, Sunil B. Surana, Snehal S. Potdar, Vijaykumar R. Kirdi, Sharanbasav S. |
author_sort | Rodagi, Sunil B. |
collection | PubMed |
description | Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder that causes abnormalities of the upper limbs and heart. It is seen in 1:1, 00, 000 live births. It is linked to a single-gene TBX5 “protein-producing” mutation with gene map locus 12q24. Most commonly it is characterized by the cardiac septation defects and pre-axial radial ray abnormalities. We are reporting a case of HOS with aortic atresia which is a rare association. |
format | Online Article Text |
id | pubmed-4879802 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-48798022016-06-10 Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association Rodagi, Sunil B. Surana, Snehal S. Potdar, Vijaykumar R. Kirdi, Sharanbasav S. Heart Views Case Report Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder that causes abnormalities of the upper limbs and heart. It is seen in 1:1, 00, 000 live births. It is linked to a single-gene TBX5 “protein-producing” mutation with gene map locus 12q24. Most commonly it is characterized by the cardiac septation defects and pre-axial radial ray abnormalities. We are reporting a case of HOS with aortic atresia which is a rare association. Medknow Publications & Media Pvt Ltd 2016 /pmc/articles/PMC4879802/ /pubmed/27293527 http://dx.doi.org/10.4103/1995-705X.182644 Text en Copyright: © Heart Views 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-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Rodagi, Sunil B. Surana, Snehal S. Potdar, Vijaykumar R. Kirdi, Sharanbasav S. Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association |
title | Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association |
title_full | Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association |
title_fullStr | Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association |
title_full_unstemmed | Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association |
title_short | Holt-Oram Syndrome Associated with Aortic Atresia: A Rare Association |
title_sort | holt-oram syndrome associated with aortic atresia: a rare association |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4879802/ https://www.ncbi.nlm.nih.gov/pubmed/27293527 http://dx.doi.org/10.4103/1995-705X.182644 |
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