Department of Paediatrics, Red Cross Children's Hospital, Klipfontein Road, Cape Town, South Africa.
J Clin Rheumatol. 2011 Jan;17(1):37-41. doi: 10.1097/RHU.0b013e3182051678.
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.
进行性骨化性纤维发育不良是一种罕见的遗传性疾病，其特征为结缔组织的进行性骨化，导致严重残疾。该病为常染色体显性遗传，大多数受累者代表决定基因 ACVR1 的新突变，位于染色体 2q23-24 上。尽管进行性骨化性纤维发育不良在全球范围内均有分布，但仅有少数非洲裔土著人群受累者的报道。我们研究并记录了南非非洲（科萨）社区的 3 名受累者。除了描述该病在非洲的表现和自然病程，我们还讨论了南非处理该病的挑战。
