Osteogenesis imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. It is also known as brittle bone disease. OI can also cause many other problems such as weak muscles, brittle teeth, and hearing loss. About 20,000 to 50,000 people in the United States have OI. In this paper, I will cover the topics of etiology, pathophysiology, signs and symptoms, treatment, and prevention (National Institute of Health).
Etiology
Osteogenesis imperfecta is caused by one of several genes that aren’t working properly. Each of the genes that cause OI plays a role in how the body makes collagen. Collagen is a material in bones that helps make them strong and not break or fall apart. When these genes are not working properly, there is not enough collagen, or the collagen does not work properly. This lack of collagen leads to weak bones …show more content…
The bones can fracture easily. Most fractures do occur before puberty. The patient is shorter than average stature. The sclera is white or near-white (normal in color). Mild bone deformity occurs. They have a tendency to have some type of spinal curvature. Barrel-shaped rib cage are not uncommon. Their face may have a triangular shape to it. Brittle teeth are possible. Hearing loss is possible. The collagen is usually improperly formed (Osteogenisis Imperfecta Foundation).
Type V is similar to Type IV in appearance and symptoms of OI. There is usually a dense band seen on x-rays adjacent to the growth plate of the long bones. There are unusually large calluses (hypertrophic calluses) at the sites of fractures or surgical procedures. There tends to be calcification of the membrane between the radius and ulna. This leads to restriction of forearm rotation. The patient has completely white sclera. Usually they have normal teeth. Their bones have a “mesh-like” appearance when viewed under the microscope (Osteogenisis Imperfecta
Etiology
Osteogenesis imperfecta is caused by one of several genes that aren’t working properly. Each of the genes that cause OI plays a role in how the body makes collagen. Collagen is a material in bones that helps make them strong and not break or fall apart. When these genes are not working properly, there is not enough collagen, or the collagen does not work properly. This lack of collagen leads to weak bones …show more content…
The bones can fracture easily. Most fractures do occur before puberty. The patient is shorter than average stature. The sclera is white or near-white (normal in color). Mild bone deformity occurs. They have a tendency to have some type of spinal curvature. Barrel-shaped rib cage are not uncommon. Their face may have a triangular shape to it. Brittle teeth are possible. Hearing loss is possible. The collagen is usually improperly formed (Osteogenisis Imperfecta Foundation).
Type V is similar to Type IV in appearance and symptoms of OI. There is usually a dense band seen on x-rays adjacent to the growth plate of the long bones. There are unusually large calluses (hypertrophic calluses) at the sites of fractures or surgical procedures. There tends to be calcification of the membrane between the radius and ulna. This leads to restriction of forearm rotation. The patient has completely white sclera. Usually they have normal teeth. Their bones have a “mesh-like” appearance when viewed under the microscope (Osteogenisis Imperfecta