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osteogenesis imperfecta
Osteogenesis imperfecta (OI), also known as brittle bone disease or Lobstein syndrome,〔James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. Page 517. ISBN 0-7216-2921-0.〕 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. 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. OI occurs in about one per 20,000 live births.
==Classification==
Of the eight different types of OI, type I is the most common, though the symptoms vary from person to person.
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