Osteogenesis Imperfecta
Osteogenesis imperfecta is a group of disorders of bone formation that make the bones abnormally fragile.
Osteogenesis imperfecta is the best known of a group of disorders that disturb bone growth; these disorders are called osteodysplasias. In osteogenesis imperfecta, synthesis of collagen, one of the normal components of bone, is impaired. The bones become weak and fracture easily. There are several types of osteogenesis imperfecta.
Osteogenesis imperfecta can range from mild to severe. Most people with osteogenesis imperfecta have fragile bones and hearing loss. Infants with severe osteogenesis imperfecta are usually born with many broken bones; the skull may be so soft that the brain is not protected from pressure applied to the head during childbirth. With moderate osteogenesis imperfecta, bones often break after very minor injuries, usually when the child begins to walk. Children with mild osteogenesis imperfecta may sustain few broken bones during childhood and even fewer after puberty, when bones strengthen. Sometimes heart or lung diseases develop in children with osteogenesis imperfecta.
X-rays may show abnormal bone structure that suggests osteogenesis imperfecta. A bone biopsy is used to confirm the diagnosis. A test called audiometry is performed often throughout childhood to monitor hearing.
Treatment
Bisphosphonate drugs (such as pamidronate, alendronate, etidronate, and risedronate) may strengthen bones. Treatment of broken bones is similar for children with osteogenesis imperfecta as for children without the disorder. However, broken bones can become deformed or fail to grow. As a result, body growth can become permanently stunted in children with many broken bones, and deformities are common. Bones may require stabilization with metal rods (intramedullary rods). Taking measures to avoid even minor injuries can help prevent fractures.
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