Osteogenesis Imperfecta Research Paper

Osteogenesis Imperfecta is a rare genetic disorder caused by a gene mutation in which bones break easily, often with no particular cause. OI can cause extreme pain and discomfort. There are several types of this disorder ranging in severity. The population affected by this disease ranges by type from one in every sixty thousand to one in every thirty-thousand.

This condition is diagnosed based on a physical exam and your medical history. You may have X-rays to check for breaks (fractures) in your bones.

Osteopetrosis is a rare, genetic disease that causes extremely dense and brittle bones. This is because individuals affected with osteopetrosis do not have normal osteoclasts, which bones need to work correctly. Healthy bones require properly functioning osteoblasts and osteoclasts. Osteoblasts are responsible for making new bones and osteoclasts are bone cells that are responsible for bone resorption, which is the breaking down of bones and providing space for new bone marrow to grow. An individual with osteopetrosis has osteoclasts that do not function properly, therefore their bones are not healthy (Stocks, Wang, Thompson, Stocks, & Horwitz, 1998).

While a cure has not yet been found for Osteogenesis Imperfecta, many treatments have been discovered. Therapy is always a great option because it can help the child strengthen his or her bones and help stretch any sore joints. Doing exercises that are not so demanding on the body, such as swimming, is a great idea as well. “Bisphosphonates are drugs that increase strength and density of bones and reduce pain and fracture rate” (Osteogenesis). Bisphosphonates have been known to be very effective and greatly improve the disease, making the life of one with Osteogenesis Imperfecta much better. Metal rods have also been used to help support the bones. Surgery may also be necessary to repair any deformities to allow the person to be able to function better and with less pain.

Osteogenesis imperfecta is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People that suffer from this condition have bones that break or fracture easily; also giving it its more well-known name “brittle bone disease”. These bone fractures often occur from mild trauma or even with no apparent cause. There are eight recognized forms of osteogenesis imperfecta, they range from type I to type VIII. The types can be differentiated by their signs and symptoms, although the main characteristic features overlap between each other. Type I is the mildest form while type II is the most severe form of Osteogenesis imperfecta; the other types of this

This patient is most likely presented with osteogenesis imperfecta. This disease is characterized by a group of genetic disorders that mainly affect the bones, in which the patients have their bones break easily resulting either from mild trauma or no apparent cause. Multiple fractures are commonly seen, and in severe cases, can occur even before birth. In milder cases only a few fractures may be seen. There are several types of OI, at least eight recognized forms of osteogenesis imperfecta, from type I through type VIII. They can be distinguished by their signs and symptoms, although their characteristic features may overlap (Greeley, et al., 2013). This patient apparently has the severe forms of osteogenesis imperfecta, including type I, which are characterized by bone fractures during childhood that often result frequent bone fractures from little or minor trauma. This child presented with a blue or grey tint to the part of the eye that is usually white,

Osteogenesis Imperfecta (OI) is an inherited disorder characterized by extreme fragility of the bones also known as ‘brittle bone disease’.

It is characterized by the severe skeletal deformity, weak bone mineralization and multiple fractures intrauterine, prior to birth. OI type III is the most severe of the 4 most common that is compatible with life after the perinatal period. A progressive skeletal deformity is present, sometimes present in the birth. Due to this, in the adult age those affected usually present short stature, in addition to being generally dependent on wheelchairs for the rest of their lives, without treatment. Patients often present with fractures soon after birth and in the adult period. Dentinogenesis imperfecta is very common, mainly in the first dentition, such as progressive hearing loss with age. The most variable group clinically, In OI type IV, the effect goes from mild to severe. Usually dentinogenesis imperfecta, not so much the hearing loss; The height is relatively low according to the degree of skeletal deformity, sclera is usually normal, and most of the patients can wander. OI type V has moderately deforming, without blue sclera or dentinogenesis imperfecta. It is characterized by hypertrophic calluses at fracture sites and the mineralization of interosseous membranes. The molecular cause is unknown but heredity appears to be autosomal dominant. OI type VI goes from moderate to severe deforming, without blue sclera or

Osteopenia is a disease in which the bone density in a person is lower than normal but not so low to where they would be considered to have osteoporosis. To tell the difference between these similar disease you would have to speak with your doctor and schedule a bone density test. By measuring your bone density you will see how dense and how strong your bones are with having osteopenia over time the bones in the body will grow weak and be more prone to breaking as well with the lowering of bone density with having osteopenia it will develop into osteoporosis over time due to the low bone density. The causes of osteopenia are natural in everyone. As we get older are bones start to lose density around are middle aged years they start to become

More information is required, such as dates for all occurrences and personal medical history, allowing better insight, to possible secondary causes of osteoporosis (OP).

Osteoclasts break down bone tissue during the remodeling of bones. The malignant infantile form happens when an infant inherits a copy of the defective gene from both of the parents. For the adult form to occur, however, only one defective gene is necessary. Most of the time, however, the inherited gene is not what causes osteopetrosis. Normally the adult form is caused by a newly formed defective gene that came about at the time of

1…2…breathe. 1…2…breathe. As I stare at neon ropes, I become completely disconnected from everything around me. Osteogenesis Imperfecta. These two foreign words were the essence of why I was currently treating a jump rope test as seriously as the first landing on the moon.

Osteoporosis is not just an adult’s disease; there is such a thing as juvenile osteoporosis. It’s most common in children ages 8-14, but can hit younger children going through growth spurts, as well. There are two types of juvenile osteoporosis: secondary and idiopathic. Secondary osteoporosis can be caused by a variety of other medical conditions, such as diabetes, celiac disease, kidney disease, leukemia, and cystic fibrosis. Idiopathic osteoporosis is far rarer and there is no known cause.

Osteoarthritis of the spine generally happens in people as they get older. Our bones are always growing and changing throughout our lives. When we are in 20’s bone density is when it is most significant, and as life goes on we lose bone mass in different aspects. This disease is common in men under 45 years of age and in women over 45 years of age. I believe that all types of osteoporosis are caused by lack of calcium and vitamin D in our bodies.

     Osteogenesis imperfecta affects bones beginning at the cellular level (National Institute of Arthritis and Musculoskeletal and Skin Diseases [NIAMS],