A rare case of Fibrodysplasia ossificans progressive
| Autor: | Shyam Srinivasan, Devanand gulab Chaudhari, Prachi Atmapoojya, Sabri Ahsan, Yugesh Kumar Agarwal |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty integumentary system business.industry Congenital malformations medicine.disease Genetic Condition 03 medical and health sciences Exon 030104 developmental biology 0302 clinical medicine 030225 pediatrics Fibrodysplasia ossificans progressiva Rare case Medicine Missense mutation business Endochondral ossification |
| Zdroj: | International Journal of Orthopaedics Sciences. 3:109-110 |
| ISSN: | 2395-1958 |
| DOI: | 10.22271/ortho.2017.v3.i1b.19 |
| Popis: | Fibrodysplasia ossificans progressiva (FOP), a rare and disabling genetic condition characterized by congenital malformations of the great toes and progressive heterotopic endochondral ossification (HEO) which is the most catastrophic of HEO disorders in humans. We hereby report a case of FOP in a 3 year old female child with multiple HEO and genetically confirmed missense variation of exon 6 of the ACVR1 gene. |
| Databáze: | OpenAIRE |
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