Osteogenesis imperfecta (OI), also known as brittle bone disease or Lobstein syndrome,[1] is a congenital bone disorder characterized by brittle bones that are prone to fracture. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of type I collagen.[2] Eight types of OI can be distinguished. Most cases are caused by mutations in the COL1A1 and COL1A2 genes. Diagnosis of OI is based on the clinical features and may be confirmed by collagen or DNA testing. There is no cure for OI. Treatment is aimed at increasing overall bone strength to prevent fracture and maintain mobility. The incidence of OI is estimated to be one per 20,000 live births.
Posted on: Thu, 22 Jan 2015 11:51:03 +0000
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