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Holt–Oram Syndrome: Hands are the Clue to the Diagnosis

Holt–Oram syndrome or heart–hand syndrome consists of phenotypic and genotypic abnormalities. It is characterized by abnormalities of upper limbs and congenital cardiac defects. It is an autosomal dominant disorder due to a mutation in TBX5 gene located on chromosome 12, but sporadic cases have also...

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Detalles Bibliográficos
Autores principales: Kumar, Basant, Agstam, Sourabh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6822328/
https://www.ncbi.nlm.nih.gov/pubmed/31681553
http://dx.doi.org/10.4103/ijabmr.IJABMR_298_18
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author Kumar, Basant
Agstam, Sourabh
author_facet Kumar, Basant
Agstam, Sourabh
author_sort Kumar, Basant
collection PubMed
description Holt–Oram syndrome or heart–hand syndrome consists of phenotypic and genotypic abnormalities. It is characterized by abnormalities of upper limbs and congenital cardiac defects. It is an autosomal dominant disorder due to a mutation in TBX5 gene located on chromosome 12, but sporadic cases have also been reported. We describe a 26-year-old female with a history of shortness of breath for 5 years. She had bilateral hand deformities, and on evaluation, found to have ostium secundum atrial septal defect which is common cardiac defect in Holt–Oram syndrome.
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spelling pubmed-68223282019-11-01 Holt–Oram Syndrome: Hands are the Clue to the Diagnosis Kumar, Basant Agstam, Sourabh Int J Appl Basic Med Res Case Report Holt–Oram syndrome or heart–hand syndrome consists of phenotypic and genotypic abnormalities. It is characterized by abnormalities of upper limbs and congenital cardiac defects. It is an autosomal dominant disorder due to a mutation in TBX5 gene located on chromosome 12, but sporadic cases have also been reported. We describe a 26-year-old female with a history of shortness of breath for 5 years. She had bilateral hand deformities, and on evaluation, found to have ostium secundum atrial septal defect which is common cardiac defect in Holt–Oram syndrome. Wolters Kluwer - Medknow 2019 2019-10-11 /pmc/articles/PMC6822328/ /pubmed/31681553 http://dx.doi.org/10.4103/ijabmr.IJABMR_298_18 Text en Copyright: © 2019 International Journal of Applied and Basic Medical Research http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Kumar, Basant
Agstam, Sourabh
Holt–Oram Syndrome: Hands are the Clue to the Diagnosis
title Holt–Oram Syndrome: Hands are the Clue to the Diagnosis
title_full Holt–Oram Syndrome: Hands are the Clue to the Diagnosis
title_fullStr Holt–Oram Syndrome: Hands are the Clue to the Diagnosis
title_full_unstemmed Holt–Oram Syndrome: Hands are the Clue to the Diagnosis
title_short Holt–Oram Syndrome: Hands are the Clue to the Diagnosis
title_sort holt–oram syndrome: hands are the clue to the diagnosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6822328/
https://www.ncbi.nlm.nih.gov/pubmed/31681553
http://dx.doi.org/10.4103/ijabmr.IJABMR_298_18
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