Osteogenesis Imperfecta Research Paper

Osteogenesis Imperfecta

Osteogenesis Imperfecta is commonly known as a disease that causes deformity in bones along with other symptoms, such as fractures in the bones, tinted sclera, loose joints, cod-fish vertebrae, hearing loss, respiratory problems, brittle teeth, collagen improperly formed, death while in fetus form, or death shortly after birth. These are only to name the main symptoms and, some symptoms are more predominant accordingly to the type of Osteogenesis Imperfecta type they have. There are different classifications of Ostegogenis Imperfecta or OI, which are type I- type VIII. I will only be discussing the most common types. Briefly some of the common characteristics that are associated with each type are type I is classic …show more content…
The only treatments offered are those that help bones, and muscles to strengthen and to help bones develop more mass. Physical therapy can help people afflicted by this disease, and aids are also given to people with this disease that help maintain motility of bones. Some aids include wheelchairs, braces, and surgical rods that are inserted in the lengths of long bones. Low impact exercise along with a healthy diet and balanced weight are encouraged. Lastly some medications that are given are steroids and some that help induce gene therapy. People, who run the risk of hereditary genes being passed down to a child, take two tests. One test on the fetus takes a look at proteins to see the quantities of collagen and if there are any defects or shortages. The second test is also done on the fetus from a blood sample to look at the DNA and look to see if there are any genetic mutations. Ultra sounds are very useful in detecting abnormalities in the fetus. By sixteen to eighteen weeks, doctors are able to see if there are bowing of the legs or arms, shortening in the bones, or fractures. Another prenatal diagnosis is looking at placenta cells through chorionic villus sampling, which helps see if there is a mutation in genes and proteins. This test is performed at ten to fourteen weeks of gestation, but research has shown that this test can result in one percent of miscarriage. Lastly a test called amniocentesis is done by checking fetal cells that are shed into amniotic fluid. This test is successful due to fetal cells carrying all the genes that are inherited, and mutations are easily

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Osteogenesis Imperfecta Research Paper