osteogenesis imperfecta type I

osteogenesis imperfecta type I A type of osteogenesis imperfecta that features bone fragility and blue sclerae (bluish whites of the eyes). Osteogenesis imperfecta type I is the classic, mild form of brittle bone disease. It is inherited as an autosomal dominant trait. It is characterized by fragile bones that are predisposed to fracture, the onset after birth of growth deficiency, abnormal teeth that look as if they have been sandblasted, thin skin, blue sclerae, and overly extensible joints. Common problems include the development of bowed legs, curvature of the spine (scoliosis and kyphosis), umbilical and inguinal hernias, and mild mitral valve prolapse. Hearing impairment begins in the third decade of life, due to otosclerosis, a disorder of the bones of the middle ear. Also known as osteogenesis imperfecta tarda and Lobstein disease.