Osteogenesis Imperfecta eMedicine 3

Description: Background: Osteogenesis imperfecta (OI) is a common heritable disorder of collagen synthesis that results in weak bones that are easily fractured and often deformed. Several distinct subtypes have been identified. All of them lead to variable degrees of micromelic (short-limbed) dwarfism. Depending on severity, the bone fragility may lead to perinatal death or cause severe deformities into adulthood. A wide array of clinical manifestations of the disease may be seen. These partly depend on the genetic subtype of OI.