Osteogenesis Imperfecta Research Papers

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

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).

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

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.

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 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.

Living with Osteogenesis Imperfecta can have multiple effects on people. There are 8 known types of OI. The severity of OI is determined by what type the person has. People with Osteogenesis Imperfecta type 2 have it the worst due to it being the most severe type.

Have you ever watched a video from the kid president? Do you know the character named Brick in the show “The Middle”? The boys who star in these shows both have something in common. They have osteogenesis imperfecta (OI). It is also known as brittle bone disease or Lobstein syndrome. OI causes the bones to be so brittle that even small movements or impacts can cause a break. These breaks are what often causes the diagnosis to come about. It can also cause the whites of a person’s eyes to turn blue and can cause hearing loss. It’s obvious that the condition can also cause chronic pain, bone deformity, small stature, spinal curvature and depression.

Osteogenesis Imperfecta, also known as brittle bones disease, is a disease that was found in ancient Egypt. A mummified infant’s skeleton is now housed in the British Museum in London (Bhandari 2008). Many symptoms occur when a person has the disease which varies from mild to severe depending on the person. Symptoms include malformed bones, a short small body, weakness in muscles, curved spine, hearing loss, and a triangular face. Also, the sclera, or the whites of the eyes look gray or purple. To diagnose Osteogenesis Imperfecta or OI for short, doctors look at medical history, family history, x rays, as well as doing a physical exam. OI has no cure, but the symptoms of the disease can be managed. Some treatments for OI may be pain medication,

     The first cases of osteogenesis imperfect date back to ancient times, with history of the condition becoming evident when an Egyptian infant mummified

Osteogenesis Imperfecta, in its medical sense, meant those who possess it also possessed fragile bones that break inexplicably easily. Osteogenesis Imperfecta in its literal sense meant that I was flawed and therefore had challenges I would constantly have to overcome. Instead of allowing years of casts, slings, and braces determine my physical future, I threw myself into the ropes accepting whatever was awaiting me on the other side. Pursuit of the unknown is something

Ossification and osteogenesis are synonyms meaning the process of bone formation. In embryos this process leads to the formation of the bony skeleton. As a person grows, another form of ossification known as bone growth goes on until early adulthood as the body continues to increase in size. Bones are capable of growing in thickness throughout life.

A) There are many signs and symptoms of Osteogenesis Imperfecta type II. These signs and symptoms include brittle bones, triangular face, abnormal bones, curved spine, irregular shaped rib-cage, breathing problems, hearing problems, and the sclera of the eyes look blue, purple, or gray. (http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta)

     Osteoporosis can be prevented. Regular exercise can reduce the likelihood of bone fractures associated with osteoporosis. Studies show that exercises requiring muscles to pull on bones, cause the bones to retain and perhaps even gain density. Researchers found that women who walk a mile a day have four to seven more years of bone in reserve than women who don't. Some of the recommended exercises include: weight-bearing exercises, riding stationary bicycles, using rowing machines, walking, and jogging. Avoiding smoking and watching what you drink can also decrease your chances of acquiring osteoporosis. Most important of all, a diet that includes an adequate amount of calcium (from milk and dairy products such as cheese and yogurt), vitamin D, and protein

The skeletal system is one of the body’s most important support systems. When anomalies occur within the bone structure, the entire body suffers. One such anomaly is the condition known as osteogenesis imperfecta or brittle bone disease. Osteogenesis imperfecta (OI) is a hereditary, genetic disorder of the bones and connective tissues that is most known for causing fragile, brittle bones which can break hundreds of times in one’s lifetime. This rare disease “occurs in approximately 1 in every 12,000-15,000 births” (Knipe et al., n.d.) and “affects between 20,000 and 50,000 people here in the United States” (Osteogenesis Imperfecta Foundation, 2015).