Fibrodysplasia ossificans progressiva
FS Kaplan, M Le Merrer, DL Glaser, RJ Pignolo… - Best practice & research …, 2008 - Elsevier
Fibrodysplasia ossificans progressiva (FOP), a rare and disabling genetic condition of
congenital skeletal malformations and progressive heterotopic ossification (HO), is the most
catastrophic disorder of HO in humans. Episodic disease flare-ups are precipitated by soft
tissue injury, and immobility is cumulative. Recently, a recurrent mutation in activin receptor
IA/activin-like kinase 2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor,
was reported in all sporadic and familial cases of classic FOP, making this one of the most …
congenital skeletal malformations and progressive heterotopic ossification (HO), is the most
catastrophic disorder of HO in humans. Episodic disease flare-ups are precipitated by soft
tissue injury, and immobility is cumulative. Recently, a recurrent mutation in activin receptor
IA/activin-like kinase 2 (ACVR1/ALK2), a bone morphogenetic protein (BMP) type I receptor,
was reported in all sporadic and familial cases of classic FOP, making this one of the most …