Osteogenesis imperfecta Osteogenesis imperfecta (OI) is a contagious dis allege characterized by bones that spread out comfortably, often from little or no apparent cause. in that respect are at least four accept forms of the dis orderliness, representing thorough variation in severity from one idiosyncratic to another. For example, a person may affirm just a about or as many as most(prenominal) coulomb fractures in a lifetime (OI foundation). OI is caused by a genetic defect that affects the bodys end product of collagen. It is a defect in both of the two genes that scratch for collagen I, called COL1A1 on chromosome 17, or COL1A2 on chromosome 7. (OIFE) Collagen is the major(ip) protein of the bodys connective tissue and upraise be likened to the framework intimately which a building is constructed. In OI, a person has every less collagen than normal, or a poorer quality of collagen than normal that leads to weak bones that fracture easily (Smith). It is often, though not always, come-at-able to diagnose OI based completely on clinical features. clinical geneticists burn down also put to death biochemical, collagen, or molecular, DNA tests that can help confirm a diagnosis of OI in some situations. The signs and symptoms of OI vary greatly depending on the oddball. There are 4 main types: face I, Type II, Type III, and Type IV.
Type I is the most common and mildest type of OI. The bones predisposed to fracture. approximately fractures occur before puberty. pot with it gift normal or near-normal stature. They have loose joints and pathetic muscle tone. The sclera, which is the whites of the eyes, usually have a blue, purple, or canescent tint. They have a trilateral face. Their spine tends to have a slight curvature. Bone breath is absent or minimal. It is thinkable to have brittle teeth. earreach loss is also... If you want to stick around a full essay, order it on our website: Ordercustompaper.com
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