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Osteogenisis Imperfecta OI- DEFINITION Osteogenisis imperfecta OI is a rare genetic disorder of collagen synthesis associated with broad spectrum of musculoskeletal problems most notably bowing and fractures of the extremities muscle weakness ligamentous laxity and spinal deformities Binder 386 Other collagen-containing extraskeletal tissues such as the sclerae the teeth and the heart valves are also affected to a variable degree OI has a common feature of bony fragility associated with defective formation of collagen by osteoblasts and fibroblasts Smith 1983 13 This disease involving defective development of the connective tissues is usually the result of the autosomal dominant gene but can also be the result of the autosomal recessive gene Spontaneous mutations are common and the clinical presentation of the disease remains to be quite broad Binder 386 OI is most commonly referred to as brittle bones but other names include fragilitas ossium hypolasia of the mesenchyme and osteopsathyrosis Osteogenisis imperfecta is still not completely understood and while there have been advances in diagnosing the disease treatment is still limited CAUSES Osteogenisis imperfecta is the result of mutations in the genes for type I collagen In the mild dominantly inherited form of OI type I a non-functional allele for the alpha 1 I chain halves collagen synthesis Smith 1995 169 and is largely responsible for the inheritance Single base mutations in the codon for glycine causes lethal type II OI by wrecking the formation of the collagen triple helix Types III and IV are the less dram- atic outcomes of similar glycine mutations in either the alpha 1 I or the alpha 2I chainsSmith 1995 169 The clinical signs can be caused from defective osteoblastic activity and defective mesenchymal collagen embryonic connective tissue and its derivatives such as sclera
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