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Osteogenesis Imperfecta

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Osteogenesis imperfecta, is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. A classification system of different types of OI is commonly used to help describe how severely a person with Osteogenesis Imperfecta, is affected. Osteogenesis Imperfecta, is caused by genetic defects that affect the body’s ability to make strong bones. In dominant Osteogenesis imperfecta, a person has too little type I collagen or a poor quality of type I collagen due to a mutation in one of the type I collagen genes. Collagen is the major protein of the body’s connective tissue. It is part of the framework that bones are formed around. In recessive Osteogenesis Imperfecta, mutations in other genes interfere with collagen production. The result in all cases is fragile bones that break easily. It is often, though not always, possible to diagnose OI based solely on clinical features. Clinical geneticists can also perform …show more content…

The term osteoporosis describes bone loss that is extensive enough to increase the risk of fracture. The term is a general one, not related to any specific cause for the bone loss. Nearly all people with OI have osteoporosis, because they do not develop appropriate bone mass at any age. Women and men with OI can experience additional bone loss, such as age-related bone loss, superimposed on a background of OI. Symptoms of additional bone loss may appear at a younger age than commonly seen in people who don’t have

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