osteogenesis imperfecta

/im'peuhr fek"teuh/, Pathol.

a rare hereditary disease in which abnormal connective tissue development leads to fragile bones subject to fracture.

[1900-05; < NL: imperfect osteogenesis]

* * *

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.

* * *

▪ disease

      hereditary disease of connective tissue characterized by brittle bones (bone) that fracture easily. In the disorder, a genetic defect causes the abnormal or reduced production of the protein collagen, a major component of connective tissue. There are four types of OI, which differ in symptoms and severity.

      An infant with the most common type of OI, type I, is normal at birth, but fractures occur over the following years; the frequency of fractures tends to diminish after puberty. The sclerae of the eyes may appear bluish owing to their abnormal thinness, which permits the pigmentation of the choroid (the middle coat of the eyeball) to show. Hearing loss may be caused by deformities of the bones of the inner ear as well as pressure on the auditory nerve because of deformity of its canal in the skull. Double-jointedness, brittle teeth, and abnormally thin skin are also characteristic of type I. In type II OI, the most severe form of the disease, stillbirth is common, or fractures are evident at birth; severe crippling often occurs, and survival to adulthood is uncommon. Type III OI causes symptoms that are similar to type I but is more severe. Type IV OI is moderately severe; it is also similar to type I, but the sclerae are normal.

      There is no cure for OI; treatment is directed toward preventing fractures, controlling symptoms, and developing bone mass. The surgical insertion of metal rods in certain bones may prevent or correct deformities.

* * *