Osteogenesis imperfecta (OI) is a rare congenital defect caused by mutations in one of the two genes (COL1A1 or COL1A2) that encode for type I collagen [1, 2]. However many other mutations in proteins involved in collagen processing and osteoblast function have been identified. Inheritance is autosomal dominant or recessive . This type of collagen is structural and present in bones, dentin, sclera, ligaments, and tendons. Disease severity is highly variable depending on the penetration and expression of the defect.
KeywordsBrittle bone disease Dwarfism Anesthetic management of OI Collagen type I Scoliosis