A hereditary disease due to an inherited abnormality of COLLAGEN. It is characterised by extreme fragility of the skeleton, resulting in fractures and deformities. It may be accompanied by blue sclera (the outermost, normally white coat of the eyeball), transparent teeth, hypermobility (excessive range of movement) of the joints, deafness, and dwar?sm (shortness of stature). The exact cause is not known, although there is some evidence that it may be associated with collagen formation. Parents of affected children can obtain help and advice from the Brittle Bone Society.... osteogenesis imperfecta
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