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Definition of OSTEOGENESIS IMPERFECTA
: a hereditary disease marked especially by extreme brittleness of bones and caused by defective or insufficient collagen
Origin of OSTEOGENESIS IMPERFECTA
New Latin, imperfect osteogenesis
First Known Use: circa 1901
Medical Definition of OSTEOGENESIS IMPERFECTA
: a hereditary disease caused by defective or deficient collagen production and marked by extreme brittleness of the long bones and a bluish color of the whites of the eyes—called also fragilitas ossium, osteopsathyrosis
Group of connective-tissue diseases in which the bones are very fragile. Several forms probably reflect different degrees of expression of the same disorder. Persons with osteogenesis imperfecta type I are normal at birth, but fractures occur easily; in van der Hoeve syndrome the sclerae are bluish, bone deformities in the skull cause deafness, double-jointedness occurs, and skin is abnormally thin. Babies with osteogenesis imperfecta type II, if not stillborn, are born with fractures, and fractures continue to occur, causing severe crippling; survival to adulthood is rare.