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. |
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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