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Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings
INTRODUCTION: It is an autosomal dominant genetic disease presented with heterotopic ossification of connective tissues after birth and a defect of the big toes. One in ten million births is affected by it worldwide. As a result, diagnosis and management of fibrodysplasia ossificans progressiva (FOP...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Indian Orthopaedic Research Group
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10066667/ https://www.ncbi.nlm.nih.gov/pubmed/37013240 http://dx.doi.org/10.13107/jocr.2022.v12.i11.3394 |
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author | Malik, Ipanshu Sharma, S C Padhiyar, Mahipal Ajitsinh Rawal, Nitin Mukherjee, Mayukh |
author_facet | Malik, Ipanshu Sharma, S C Padhiyar, Mahipal Ajitsinh Rawal, Nitin Mukherjee, Mayukh |
author_sort | Malik, Ipanshu |
collection | PubMed |
description | INTRODUCTION: It is an autosomal dominant genetic disease presented with heterotopic ossification of connective tissues after birth and a defect of the big toes. One in ten million births is affected by it worldwide. As a result, diagnosis and management of fibrodysplasia ossificans progressiva (FOP) can be delayed or misdiagnosed. Clinical assessment, radiographic examination, and genetic study of the Activin receptor Type 1A gene are among the diagnostic techniques used to identify this disease. CASE REPORT: We are presenting three female cases having FOP in this article of different age groups. It presented with multiple non-tender lumps on patients’ paravertebral region along with bilateral hallux valgus. The radiograph revealed ossifications of soft tissue involving spine and neck. The patient was given a conservative treatment approach and told what could be done to prevent flare-ups. CONCLUSION: Being a rare, progressive, and often misdiagnosed condition, early diagnosis is advocated. Long-term physiotherapy and muscle trauma prevention can delay it as much as possible to prevent future disabilities. |
format | Online Article Text |
id | pubmed-10066667 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Indian Orthopaedic Research Group |
record_format | MEDLINE/PubMed |
spelling | pubmed-100666672023-04-02 Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings Malik, Ipanshu Sharma, S C Padhiyar, Mahipal Ajitsinh Rawal, Nitin Mukherjee, Mayukh J Orthop Case Rep Case Report INTRODUCTION: It is an autosomal dominant genetic disease presented with heterotopic ossification of connective tissues after birth and a defect of the big toes. One in ten million births is affected by it worldwide. As a result, diagnosis and management of fibrodysplasia ossificans progressiva (FOP) can be delayed or misdiagnosed. Clinical assessment, radiographic examination, and genetic study of the Activin receptor Type 1A gene are among the diagnostic techniques used to identify this disease. CASE REPORT: We are presenting three female cases having FOP in this article of different age groups. It presented with multiple non-tender lumps on patients’ paravertebral region along with bilateral hallux valgus. The radiograph revealed ossifications of soft tissue involving spine and neck. The patient was given a conservative treatment approach and told what could be done to prevent flare-ups. CONCLUSION: Being a rare, progressive, and often misdiagnosed condition, early diagnosis is advocated. Long-term physiotherapy and muscle trauma prevention can delay it as much as possible to prevent future disabilities. Indian Orthopaedic Research Group 2022-11 2022-11 /pmc/articles/PMC10066667/ /pubmed/37013240 http://dx.doi.org/10.13107/jocr.2022.v12.i11.3394 Text en Copyright: © Indian Orthopaedic Research Group https://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 Malik, Ipanshu Sharma, S C Padhiyar, Mahipal Ajitsinh Rawal, Nitin Mukherjee, Mayukh Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings |
title | Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings |
title_full | Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings |
title_fullStr | Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings |
title_full_unstemmed | Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings |
title_short | Fibrodysplasia Ossificans Progressiva: A Case Series with Radiologic Findings |
title_sort | fibrodysplasia ossificans progressiva: a case series with radiologic findings |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10066667/ https://www.ncbi.nlm.nih.gov/pubmed/37013240 http://dx.doi.org/10.13107/jocr.2022.v12.i11.3394 |
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