type II osteogenesis imperfecta
Quick Summary
Type II osteogenesis imperfecta (OI) is a severe, hereditary connective tissue disease characterized by extremely brittle bones that fracture easily. This condition arises from a genetic defect affecting the production of collagen, a key protein in connective tissue.12
In type II OI, stillbirth is common, or fractures are present at birth. Severe crippling often occurs, and survival into adulthood is rare. While there is no cure, treatments focus on preventing fractures, managing symptoms, and improving bone mass. Bisphosphonate drugs and surgical insertion of metal rods have shown effectiveness in some cases.1
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