Osteogenesis imperfecta Osteogenesis imperfecta (OI) is a contagious dis pronounce characterized by bones that disassemble easily, often from little or no apparent cause. in that respect are at least four accept forms of the disorder, representing thorough variation in severity from one item-by-item to another. For example, a person may affirm just a about or as many as roughly(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 chromosome 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 close to which a building is constructed. In OI, a person has any less collagen than linguistic rule, or a poorer quality of collagen than normal that leads to anaemic bones that fracture easily (Smith). It is often, th ough not always, possible to diagnose OI based solely on clinical features. clinical geneticists contribute 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: part I, Type II, Type III, and Type IV.
Type I is the most common and mildest type of OI. The bones dispose 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, usually ha ve a blue, purple, or gray tint. They have a! triangular face. Their spine tends to have a slight curvature. fig out speck is absent or minimal. It is possible to have unannealed teeth. earshot loss is also... If you want to get a beneficial essay, order it on our website: OrderCustomPaper.com
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