Fibrodysplasia ossificans progressiva: A case report with clinical and molecular findings [Fibrodisplazi Ossifikans Progresiva: Klinik ve Moleköler Bulgulariyla Klasik Bir Olgu]

Fibrodysplasia ossificans progressiva (FOP), is a rare autosomal dominant disease characterized by new bone formation with in extraskeletal connective tissues and congenital malformations of the bigtoes. There have been described two types of FOP, classical and atypical. The heterozygous mutation (c.617GA; p.R206H) in ACVR1 gene, located at chromosome 2q23, has been discovered as there sponsible for classical FOP. A 5-year-old girl with FOP clinically diagnosed was found to have this recurrent mutation heterozygously. This case is reported to emphasize the importance of considering this rare syndrome on cases with similar symptoms. © Copyright 2015 by Turkiye Klinikleri.