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Osteogenesis Imperfecta Research Paper

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Osteogenesis Imperfecta is a disorder of the bones which causes the bones to be very weak and fragile.
The bones are weak due to poor quality or absence of collagen produced by the body. Usually this disease is inherited by the parents due to a genetic mutation. Osteogenesis imperfecta is usually present at birth. When a bone is damaged in people with Osteogenesis imperfecta (OI), the bones tend to heal at a normal rate, but they may be deformed during the healing process. It is also possible in severe cases, that during the birthing process that the bones may break and cause death. The majority of fractures start during infancy and early childhood and less often when the child goes thru puberty. There are many symptoms present …show more content…

Hearing loss usually occurs at 20 years of age. Vertebral fractures are typical and are what leads to scoliosis. Ribs that break can cause the respiratory problems as well. Diagnosis for Osteogenesis imperfecta can be made by a blood test to check genes, or possibly a skin biopsy to test the collagen. Medical treatment for OI has been unsuccessful. Many treatments have been tried without success. Hormone treatments such as calcitonin, cortisone and thyroxine. Vitamins A, C and D as well as minerals such as magnesium, aluminum, and phosphate. Doctors also tried radiology. The most widely used treatments was bisphonates which slowed down bone loss of the patients and prevent the bones of getting weaker.

Other treatments for patients with Osteogenesis imperfecta were surgical procedures. In long bones, rods were put in to prevent and correct deformities. Fractures were monitored as well as assistive devices such as canes, wheelchairs and braces. Dental procedures were done for brittle teeth. There are no preventatives that can be taken with Osteogenesis imperfecta. Preventative

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In some cases, babies who are brought into the emergency room with their parents with a broken bone can cause a situation for the parents because the parents may be seen as being responsible for child abuse. X-rays are needed to be taken to prove that child abuse may not be the case and so that the doctors can know that a baby may have osteogenesis imperfecta, and that they can help the baby and that the doctors can know that child abuse is not the reason why the baby may have a broken bone. The physical clinical symptoms include “fragile bones, sensitive skin, hearing impairment, high temperature, short stature” (Annagür). To diagnose this disorder x-rays would be taken and the treatment for this disorder is would be surgery and management. Dr. Marion talked about a case of where two parents who accused of child abuse because of a misunderstanding, the doctors and medical staff thought that the parents were abusing the baby but the baby in reality had osteogenesis imperfecta (Gliga).

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