title: Fibrodysplasia ossificans progressiva in South Africa: difficulties in management in a developing country.
abstract: Fibrodysplasia ossificans progressiva is a rare genetic disorder in which progressive ossification of connective tissue leads to severe disability. The condition is an autosomal dominant trait, and most of the affected persons represent new mutations for the determinant gene, ACVR1, chromosomal locus 2q23-24. Although fibrodysplasia ossificans progressiva has a worldwide distribution, there are only a few reports of affected persons of indigenous African stock. We studied and documented 3 affected individuals in the African (Xhosa) community from South Africa. In addition to describing the manifestations and natural history of the disorder in Africa, we discuss the challenge of management of this condition in the South African context.
authors.affiliation: Department of Paediatrics, Red Cross Children's Hospital, Klipfontein Road, Cape Town, South Africa. Chris.Scott@uct.ac.za
authors.forename: Chris
authors.initials: C
authors.lastname: Scott
authors.forename: Mike
authors.initials: M
authors.lastname: Urban
authors.forename: Regan
authors.initials: R
authors.lastname: Arendse
authors.forename: Collet
authors.initials: C
authors.lastname: Dandara
authors.forename: Peter
authors.initials: P
authors.lastname: Beighton
mesh_terms: D044383:Black People; D002648:Child; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009221:Myositis Ossificans / Q000175:diagnosis / Q000208:ethnology / Q000628:therapy*; D013019:South Africa