Osteogenesis imperfecta

Osteogenesis imperfecta, or brittle bone disease, is due to a genetic problem producing defective collagen, the protein responsible for providing strength to our connective tissue. There are different degrees of deficiency varying from very little deformity (only the whites of the eyes and the hearing are affected) to a severe form which is usually lethal in childhood. There are intermediate forms which present with recurrent fractures and progressive deformity from childhood and cause the fragility of bones in adulthood. Treatment with agents which suppress the activity of the cells that absorb bone may be helpful in some cases.
 
 

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