Osteogenesis imperfecta Osteogenesis imperfecta (OI) is a contagious dis mark characterized by bones that crack easily, often from little or no apparent cause. in that respect are at least four recognise forms of the dis enact, representing thorough variation in severity from one case-by-case to another. For example, a person whitethorn 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 achievement of collagen. It is a defect in both of the two genes that law for collagen I, called COL1A1 on chromo somewhat 17, or COL1A2 on chromosome 7. (OIFE) Collagen is the major(ip) protein of the bodys connective tissue and frame be likened to the framework more or less which a building is constructed. In OI, a person has every(prenominal) less collagen than normal, or a poorer quality of collagen than normal that leads to anaemic bones that fracture easily (Smith). It is often, though not always, come-at-able to diagnose OI based merely on clinical features. clinical geneticists burn also do 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 suit. There are 4 main types: character reference I, Type II, Type III, and Type IV.
Type I is the most common and mildest type of OI. The bones predisposed to fracture. neighboring fractures occur before puberty. nation with it move over normal or near-normal stature. They have loose joints and mortified muscle tone. The sclera, which is the whites of the eyes, usually have a blue, purple, or rusty tint. They have a angulate face. Their spine tends to have a slight curvature. Bone intimation is absent or minimal. It is achievable to have brittle teeth. listening loss is also... If you want to dismay a full essay, order it on our website:
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