Osteogenesis imperfecta Osteogenesis imperfecta (OI) is a contagious dis pronounce characterized by bones that shell out easily, often from little or no apparent cause. in that respect are at least four know forms of the disorder, representing thorough variation in severity from one singular to another. For example, a person may affirm just a about or as many as several(prenominal) coulomb fractures in a lifetime (OI foundation). OI is caused by a genetic defect that affects the bodys production of collagen. It is a defect in both of the two genes that code for collagen I, called COL1A1 on chromo about 17, or COL1A2 on chromosome 7. (OIFE) Collagen is the major(ip) protein of the bodys connective tissue and erect be likened to the framework almost which a building is constructed. In OI, a person has every less collagen than prescript, or a poorer quality of collagen than normal that leads to anaemic bones that fracture easily (Smith). It is often, though not always , attainable to diagnose OI based solely on clinical features. clinical geneticists erect also perform 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 type. There are 4 main types: geek I, Type II, Type III, and Type IV. Type I is the most common and mildest type of OI. The bones predisposed to fracture. nigh fractures occur before puberty. People with it have normal or near-normal stature. They have loose joints and low muscle tone. The sclera, which is the whites of the eyes, ordinarily have a blue, purple, or gray tint. They have a triangular face. Their spine tends to have a slight curvature. attire speck is absent or minimal. It is possible to have brickle teeth. earshot loss is also... If you want to get a bountiful essay, order it on our website: BestEssayCheap.com
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