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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Wolters Kluwer - Medknow
2019
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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. |
format | Online Article Text |
id | pubmed-6822328 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT kumarbasant holtoramsyndromehandsarethecluetothediagnosis AT agstamsourabh holtoramsyndromehandsarethecluetothediagnosis |