| Autor: |
Sharique M, Yasir Salam Siddiqui, Mazhar Abbas Julfiqar, Sherwani MKA |
| Rok vydání: |
2020 |
| Předmět: |
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| Zdroj: |
MOJ Orthopedics & Rheumatology. 12:132-135 |
| ISSN: |
2374-6939 |
| DOI: |
10.15406/mojor.2020.12.00536 |
| Popis: |
Fibrodysplasia ossificans progressiva (FOP) is an exceptionally uncommon autosomal dominant genetic disorder characterized by defects in skeletogenesis manifesting as congenital malformations of the great toes and progressive postnatal induction of disabling ectopic endochondral osteogenesis. During early course of disease patients of FOP are often misdiagnosed as having soft tissue sarcoma or aggressive juvenile fibromatosis and hence sometimes undergo invasive procedures that usually lead to the speeding up of disease process. Therefore early correct diagnosis of fibrodysplasia ossificans progressiva is necessary to prevent additional iatrogenic insult. The case study is being presented to highlight the clinical features of fibrodysplasia ossificans progressiva, difficult aspect of diagnosis and management with brief literature review. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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