Endocrine Abstracts

Osteogenesis imperfecta (OI) is a heterogeneous genetic disorder with a prevalence of 1/15 000 to 1/20 000 individuals. In more than 90% of patients with type I–IV OI, the disorder is due to a dominant mutation in one of the two genes that encode the α chains of collagen type I, Col1A1 and Col1A2. Collagen type I is present in many tissues, and in addition to multiple fractures patients with OI can have dentinogenesis imperfecta, blue sclera, hyper mobile ligaments a...