Genetic disorders with heterotopic ossificans

Fibrodysplasia ossificans progressiva (FOP) and progressive ossific heteroplasia (POH) are rare genetic disorders characterized by heterotopic bone formation leading to progressive loss of mobility and function. We report three cases of these rare disorders (two cases of FOP and one case of POH), wh...

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Autores principales: Sankar, Ruthiramurthy, Gowrishankar, Kalpana, Viswanathan, Saraswati
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4443422/
https://www.ncbi.nlm.nih.gov/pubmed/26015640
http://dx.doi.org/10.4103/0019-5413.156228
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author Sankar, Ruthiramurthy
Gowrishankar, Kalpana
Viswanathan, Saraswati
author_facet Sankar, Ruthiramurthy
Gowrishankar, Kalpana
Viswanathan, Saraswati
author_sort Sankar, Ruthiramurthy
collection PubMed
description Fibrodysplasia ossificans progressiva (FOP) and progressive ossific heteroplasia (POH) are rare genetic disorders characterized by heterotopic bone formation leading to progressive loss of mobility and function. We report three cases of these rare disorders (two cases of FOP and one case of POH), which were clinically diagnosed and underwent genetic analysis. The aim of this report is to highlight the clinical features and the differences between these two conditions. We would also like to emphasize on the morbidity that can arise from unnecessary invasive investigations for diagnostic purposes.
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spelling pubmed-44434222015-05-26 Genetic disorders with heterotopic ossificans Sankar, Ruthiramurthy Gowrishankar, Kalpana Viswanathan, Saraswati Indian J Orthop Case Report Fibrodysplasia ossificans progressiva (FOP) and progressive ossific heteroplasia (POH) are rare genetic disorders characterized by heterotopic bone formation leading to progressive loss of mobility and function. We report three cases of these rare disorders (two cases of FOP and one case of POH), which were clinically diagnosed and underwent genetic analysis. The aim of this report is to highlight the clinical features and the differences between these two conditions. We would also like to emphasize on the morbidity that can arise from unnecessary invasive investigations for diagnostic purposes. Medknow Publications & Media Pvt Ltd 2015 /pmc/articles/PMC4443422/ /pubmed/26015640 http://dx.doi.org/10.4103/0019-5413.156228 Text en Copyright: © Indian Journal of Orthopaedics 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-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Sankar, Ruthiramurthy
Gowrishankar, Kalpana
Viswanathan, Saraswati
Genetic disorders with heterotopic ossificans
title Genetic disorders with heterotopic ossificans
title_full Genetic disorders with heterotopic ossificans
title_fullStr Genetic disorders with heterotopic ossificans
title_full_unstemmed Genetic disorders with heterotopic ossificans
title_short Genetic disorders with heterotopic ossificans
title_sort genetic disorders with heterotopic ossificans
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4443422/
https://www.ncbi.nlm.nih.gov/pubmed/26015640
http://dx.doi.org/10.4103/0019-5413.156228
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AT gowrishankarkalpana geneticdisorderswithheterotopicossificans
AT viswanathansaraswati geneticdisorderswithheterotopicossificans

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