Osteogenesis Imperfecta Essay -- Disease, Disorders

Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder with the main characteristic being that the bones break very easily, usually for no apparent reason. The major cause of osteogenesis imperfecta is a mutation in the genes that produce collagen. Collagen is the main protein that works toward the production of connective tissue. Individuals with this disorder will produce less collagen than needed, which causes the bone development to be endangered. This could result in bone deformities. There are four types of osteogenesis imperfecta, and in all four types you will see bone fragility with multiple fractures and bone deformities. Type I of OI is the most common, comprising 70% of all cases. Bruising will occur very easily in this type. The bone fragility is considered mild to moderate, and osteoporosis will be present. In this case it is likely that multiple fractures will have occurred before the age of 5. Type II of OI accounts for approximately 10% of all cases. OI Type II is always lethal in the fetus. This is the most severe form of OI. The ribs will be thin, there will be limited cranial and facial bone ossification, and the limbs will be short. Type III of OI makes up 15% of all cases. This is the next in severity after Type II, and the type most 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 deformity that will be progressive. Children with this type seem to have severe dwarfism due to spinal compression fractures and disturbance in growth plates. Type IV of OI is much rarer, comprising only 5% of cases. The bones may appear normal at the time of the first... ... law enforcement and legal counsel will be involved. It may also be necessary to contact a child psychologist or other therapist to assist. Works Cited "Chapter 37." Operative Techniques in Orthopaedic Surgery. Ed. Sam Wiesel. 4th ed. Vol. 2. Lippincott Williams & Wilkins, 2011. eBook. Hoffmeister, Ellen. "Gene Therapy and Pharmaceuticals Offer Hope for Many Patients With Brittle Bones." Bone and Joint 11.5 (2005): 49-51. eBook. Kaiser, L. R., A. C. O. Surgeons, and W. H. Pearce. Acs surgery, principles & practice. 6th. Webmd Prof Pub, 2007. eBook. McMillan, Julia A., Ralph D. Feigin, Catherine DeAngelis, and M. Douglas Jones. Oski's Pediatrics, Principles & Practice. Williams & Wilkins, 2006. Minor, 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