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An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by the gradual heterotopic ossification of soft tissues, leading to abnormal bone growth within muscles, tendons, and ligaments, due to a mutation in the ACVR1 gene. This specific case report highlights an unusual o...

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Autores principales: Saeed, Shahzeb, Naveed, Husnain, Maktabijahromi, Niloufar, Mohammed, Norhan, Rehman, Abdur
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10493469/
https://www.ncbi.nlm.nih.gov/pubmed/37700978
http://dx.doi.org/10.7759/cureus.43309
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author Saeed, Shahzeb
Naveed, Husnain
Maktabijahromi, Niloufar
Mohammed, Norhan
Rehman, Abdur
author_facet Saeed, Shahzeb
Naveed, Husnain
Maktabijahromi, Niloufar
Mohammed, Norhan
Rehman, Abdur
author_sort Saeed, Shahzeb
collection PubMed
description Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by the gradual heterotopic ossification of soft tissues, leading to abnormal bone growth within muscles, tendons, and ligaments, due to a mutation in the ACVR1 gene. This specific case report highlights an unusual occurrence of FOP, emphasizing the diagnostic challenges and the importance of quick identification and appropriate intervention to mitigate its debilitating effects. The report also underscores the need for comprehensive genetic counseling and a multidisciplinary treatment approach, involving experts, such as orthopedic specialists, geneticists, and physical therapists, to improve the prognosis and overall well-being of those affected by FOP.
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spelling pubmed-104934692023-09-12 An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report Saeed, Shahzeb Naveed, Husnain Maktabijahromi, Niloufar Mohammed, Norhan Rehman, Abdur Cureus Genetics Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by the gradual heterotopic ossification of soft tissues, leading to abnormal bone growth within muscles, tendons, and ligaments, due to a mutation in the ACVR1 gene. This specific case report highlights an unusual occurrence of FOP, emphasizing the diagnostic challenges and the importance of quick identification and appropriate intervention to mitigate its debilitating effects. The report also underscores the need for comprehensive genetic counseling and a multidisciplinary treatment approach, involving experts, such as orthopedic specialists, geneticists, and physical therapists, to improve the prognosis and overall well-being of those affected by FOP. Cureus 2023-08-10 /pmc/articles/PMC10493469/ /pubmed/37700978 http://dx.doi.org/10.7759/cureus.43309 Text en Copyright © 2023, Saeed et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Saeed, Shahzeb
Naveed, Husnain
Maktabijahromi, Niloufar
Mohammed, Norhan
Rehman, Abdur
An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report
title An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report
title_full An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report
title_fullStr An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report
title_full_unstemmed An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report
title_short An Atypical Presentation of Fibrodysplasia Ossificans Progressiva and the Imperative for Multidisciplinary Care: A Case Report
title_sort atypical presentation of fibrodysplasia ossificans progressiva and the imperative for multidisciplinary care: a case report
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10493469/
https://www.ncbi.nlm.nih.gov/pubmed/37700978
http://dx.doi.org/10.7759/cureus.43309
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