Report of two FOP cases with 617G>A mutation in the ACVR1 gene from Chinese population.

摘要

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare autosomal dominant disorder characterized by malformation of the great toes, postnatal extraskeletal ossification, and benign osteochondromas (Kaplan et a/., 2002; Deirmengian eta/., 2008). We present here the two cases with congenital malformation of great toes, hetero-topic ossification around the proximal thigh and the proximal humerus bilaterally and osteochondromas of the proximal tibia. Scoliosis which has not been reported earlier in other cases of FOP was found in one of our patients