Osteogenesis Imperfecta Research Paper

560 Words3 Pages
Osteogenesis Imperfecta (OI) is a rare congenital disorder of the connective tissue caused by the mutation of type 1 collagen genes COL1A1, COL1A2, CRTAP, and P3H1. People born with defective connective tissue or without the ability to make it, suffer from bone fragility or what is otherwise known as brittle bone disease. “Fractures may be rare or frequent (more than 200 prior to puberty) and bone fragility may be accompanied with reduced life span and various connective tissue abnormalities.” (Anna Gajko-Galicka, 2002) “There are at least eight recognized forms of osteogenesis imperfecta, designated type 1 through type VIII. (Genetics Home Reference, 2015) Classification ranges from mild type 1 to severe/lethal types II and VIII. In the
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  • Osteogenesis Imperfecta Research Paper

    724 Words  | 3 Pages

    Osteogenesis imperfecta is a genetic, typically autosomal dominant, disease affecting the amount and/or quality of type I collagen produced which results in fragile bones leading to increased fractures. Type I collagen is found in the bones, skin, and in the connective tissue of many organs, blood vessels, and the gastrointestinal tract. There are four subtypes of Osteogenesis imperfecta—Type I, Type II, Type III & Type VI—with a wide range of symptoms and a great deal of overlap. The subtypes are

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