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...

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Autores principales: Rodagi, Sunil B., Surana, Snehal S., Potdar, Vijaykumar R., Kirdi, Sharanbasav S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Case Report
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.
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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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