Beukes hip dysplasia (BHD) is an autosomal dominant disorder characterised by bilateral dysmorphism of the proximal femur, which results in severe degenerative osteoarthropathy. Pain develops in the hip joints in early childhood in the majority of affected persons and the course is progressive with severe crippling by early adulthood. General health is good, and height is not significantly reduced. The condition is unique in that the underlying dysplasia and subsequent osteoarthritis are confined to the hip joint. Identification of a mutation in UFSP2 has been reported.
Watson CM, Crinnion LA, Gleghorn L, Newman WG, Ramesar R, Beighton P, Wallis GA
タイトル
Identification of a mutation in the ubiquitin-fold modifier 1-specific peptidase 2 gene, UFSP2, in an extended South African family with Beukes hip dysplasia.
