children s health issues
Osteogenesis Imperfecta
Introduction
Osteogenesis imperfecta is a hereditary disorder that disrupts the proper formation of bones and makes bones abnormally fragile. This disorder is caused by mutations in certain genes. Typical symptoms include weak bones that break easily. The diagnosis is based on x-rays. The type that occurs in infancy is lethal. Certain medications can help strengthen bones and injections of growth hormone can help some children. Osteogenesis imperfecta is an osteodysplasia. Osteodysplasias are disorders that disturb bone growth. Osteogenesis imperfecta is the most well known osteodysplasia. In osteogenesis imperfecta, synthesis of collagen, one of the normal components of bone, is impaired in most affected people because of mutations in the genes that play an important role in the development of collagen. The bones become weak and break (fracture) easily. There are 4 main types of osteogenesis imperfecta (I, II, III, and IV) along with other rare types. 