Abstract
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.
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