Osteogenesis Imperfecta

AbstractOsteogenesis imperfecta is an autosomal dominant disorder of connective tissue, commonly known as “brittle bone disease.” The frequency of osteogenesis imperfecta identifiable at birth is estimated to be between 1 in 20,000 and 1 in 30,000. Osteogenesis imperfecta is characterized by bone fragility; affected individuals sustain fractures after very mild trauma. Because osteogenesis imperfecta is a generalized connective tissue disorder, other typical features include blue sclerae, dentinogenesis imperfecta, hearing loss, cardiopulmonary abnormalities, easy bruisability, excessive sweating, and loose joints. Current therapeutic management is discussed.