article Open Access
A rare case of Fibrodysplasia ossificans progressive
International Journal of Orthopaedics Sciences · 2017 · Vol. 3(1b) · pp. 109–110
Shyam Srinivasan✉(Government Medical College)Devanand Chaudhari(Grant Medical College and Sir Jamshedjee Jeejeebhoy Group of Hospitals)Md. Sabri Ahsan(Grant Medical College and Sir Jamshedjee Jeejeebhoy Group of Hospitals)Prachi Atmapoojya(Government Medical College)Yugesh Kumar Agarwal(Grant Medical College and Sir Jamshedjee Jeejeebhoy Group of Hospitals)
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.
Heterotopic Ossification and Related ConditionsMedical Imaging and Pathology StudiesGenetic Syndromes and ImprintingFibrodysplasia ossificans progressivaMedicineHeterotopic ossificationEndochondral ossificationMissense mutationGenetic ConditionGenetic disorderOssificationMyositis ossificansExon
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