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disorder |
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| (OI) any of several types of collagen disorders, of variable inheritance, due to defective biosynthesis of type I collagen and characterized by brittle, osteoporotic, easily fractured bones; other defects are blue sclerae, wormian bones, and dentinogenesis imperfecta. Spondyloepiphyseal dysplasia (SED) is a rare, type II collagen disorder that is defined and diagnosed by its characteristic clinical and radiologic features. Osteogenesis imperfecta is another collagen disorder that may need to be ruled out, even though patients with this disorder often demonstrate joint hypermobility. |
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