Oesteogenesis imperfecta--genetics, diagnosis and medical treatment
Brixen, K.T.; Illum, N.O.; Hansen, B.; Lund, A.M.; Mosekilde, L.
Ugeskrift for Laeger 169(1): 30-34
2007
ISSN/ISBN: 1603-6824 PMID: 17217883 Document Number: 614335
The molecular background for osteogenesis imperfecta (OI) is mutations in one of the two genes (COL1A1 and COL1A2) encoding collagen I. The disease is characterised by varying degrees of fragile bones, retarded growth, bone deformities, tooth abnormalities, blue sclerae, and hearing loss. Treatment with bisphosphonates reduces the incidence of fractures in children with severe OI, while this still remains to be demonstrated in adults. Results from bone marrow transplantation and animal experiments may lead to alternative treatment in severe OI.