osteogenesis imperfecta

peri021.jpg (62202 bytes)

This baby's extremities are positioned oddly because there have been multiple fractures due to osteogenesis imperfecta (OI). This disease leads to multiple fractures. The basic problem is a defect in the formation of type 1 collagen that forms bone matrix. There are several types of OI with different inheritance patterns.

peri022.jpg (46695 bytes)

This is a lethal form of osteogenesis imperfecta (OI) in which the fractures even appear in utero, as revealed by this radiograph of a stillborn fetus. Note the irregular motheaten appearance of the long bones of the arm.

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