Endocrine Abstracts

Osteogenesis imperfecta (OI) is a disorder that affects bone material properties, mass and architecture, with resultant bone fragility. Most (85–90%) affected individuals have a mutation in one of the two genes encoding type I collagen (COL1A1/2), although mutations in 16 other genes have been identified that result in congenital bone fragility. Mother A presented in her sixth pregnancy, after having four previous first trimester miscarriages and one well infant. Early an...