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  • Essay / Osteogenesis imperfecta - 1303

    Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder whose main characteristic is that bones break very easily, usually for no reason related. The main cause of osteogenesis imperfecta is a mutation in the genes that produce collagen. Collagen is the main protein that contributes to the production of connective tissue. People with this disorder will produce less collagen than necessary, putting bone development at risk. This could lead to bone deformities. There are four types of osteogenesis imperfecta, and in each of these four types, you will see bone fragility with multiple bone fractures and deformities. Type I OI is the most common, accounting for 70% of all cases. Bruising will occur very easily in this type. Bone fragility is considered mild to moderate and osteoporosis will be present. In this case, it is likely that multiple fractures occurred before the age of 5 years. Type II OI accounts for approximately 10% of all cases. Type II OI is always fatal in the fetus. This is the most severe form of OI. The ribs will be thin, the ossification of the cranial and facial bones will be limited and the limbs will be short. Type III OI accounts for 15% of all cases. This is the most serious type after type II and the type best known to radiologists and orthopedic surgeons. Two thirds of these cases will have fractures at birth. There will be severe bone fragility with multiple fractures and deformities which will be progressive. Children with this type appear to suffer from severe dwarfism due to compression fractures of the spine and disruption of the growth plates. Type IV OI is much rarer, accounting for only 5% of cases. The bones may appear normal at the time of first...... middle of paper ...... law enforcement and legal advisors will be involved. It may also be necessary to contact a child psychologist or other therapist for help. Works Cited “Chapter 37”. Operating techniques in orthopedic surgery. Ed. Sam Wiesel. 4th ed. Flight. 2. Lippincott Williams & Wilkins, 2011. eBook. Hoffmeister, Ellen. “Gene therapy and pharmaceuticals offer hope to many patients with brittle bones.” Bones and Joints 11.5 (2005): 49-51. eBook.Kaiser, LR, ACO Surgeons and WH Pearce. AC surgery, principles and practice. 6th. Webmd Prof Pub, 2007. eBook. McMillan, Julia A., Ralph D. Feigin, Catherine DeAngelis, and M. Douglas Jones. Pediatrics, principles and practice of Oski. Williams and Wilkins, 2006. Miner, Patricia. Living with OI, one day at a time. Publish America, 2006. Web. Picoult, Jodi. Handle with care. New York, NY, USA: Washington Square Press, 2009