Early diagnosis of fibrodysplasia ossificans progressiva

FS Kaplan, M Xu, DL Glaser, F Collins, M Connor… - …, 2008 - publications.aap.org
BACKGROUND. Fibrodysplasia ossificans progressiva is a rare and disabling genetic
condition characterized by congenital malformation of the great toes and by progressive
heterotopic ossification in specific anatomic patterns. Most patients with fibrodysplasia
ossificans progressiva are misdiagnosed early in life before the appearance of heterotopic
ossification and undergo diagnostic procedures that can cause lifelong disability. Recently,
the genetic cause of fibrodysplasia ossificans progressiva was identified, and definitive …