A rare case of Fibrodysplasia ossificans progressive
Journal Title: International Journal of Orthopaedics Sciences - Year 2017, Vol 3, Issue 1
Abstract
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.
Authors and Affiliations
Dr. Shyam Srinivasan, Dr. Devanand Gulab Chaudhari, Dr. MD Sabri Ahsan, Dr. Prachi Atmapoojya, Dr. Yugesh Kumar Agarwal
Keywords
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- EP ID EP498472
- DOI 10.22271/ortho.2017.v3.i1b.19
- Views 113
- Downloads 0
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