Osteogenesis Imperfecta Research Paper

There are numerous causes of osteopenia. Usually as people age, naturally their bones become weaker and thinner, more susceptible to breaking. Around the age of 30, all people begin to reach their peak bone density. The thicker and stronger your bones are, the less likely you are able to develop the disease. Women are more than twice as likely to be diagnosed with the disease because Women have a significantly lower peak bone density and the deterioration of bone mass speeds up as hormonal changes that occur during the time of menopause. It is also becoming more common in young female athletes. Young female athletes that

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, also known as Brittle Bone Disease, is a disease that effects bones and joints. Osteogenesis Imperfecta is a disease that effects child, and most often children are born with this disease. In some cases the disease may take a couple years to show symptoms, but more often than not the disease is recognized when the child is born. “Osteogenesis Imperfecta is caused by a defect in the gene which produces collagen 1, an important building block of bone” (Osteogenesis). The bones are very fragile, and often times break when touched or moved. The severity of the disease depends on which portion of the gene is affected. If a child is lucky, the disease may only affect a small portion of the gene, which would make the

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’.

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

Over 90 percent of osteogenesis imperfecta cases are caused by mutations in the COL1A1 and COL1A2 genes. These are the genes that provide instructions for making the proteins that are used to build type I collagen—the most abundant protein in bone, skin, and other connective tissues that provide strength, support, and structure to the body. Osteogenesis imperfecta type I is most often caused by mutations in the COL1A1 gene; specifically, genetic changes that reduce the production of type I collagen. This causes bones to be very brittle and fracture easily. As for OI types II, III, and IV, mutations in the COL1A1 and COL1A2 causes alterations in the structure of type I collagen molecules. This defect will weaken connective tissues, predominantly in bone, and result in the typical features of OI. The mutations in the CRTAP and P3H1 genes cause the rare and sometimes severe cases of osteogenesis imperfecta. CRTAP usually classifies type VII, and P3H1 classifies type VIII. The proteins that are produced by these genes work together to create the mature form of collagen molecules. The defects in these molecules lead to weakened connective tissues, which cause severe bone abnormalities and growth problems. Osteogenesis imperfecta types V and VII are found in people without identified mutations in their genes, making the cause of the disorder unknown. Researchers are continually working towards

Imagine that he lets out a cry when being bathed, and you later learn that he has multiple fractures in his femur. Imagine learning that during birth he has fractures many ribs and X-rays show that he has several more healed fractures. This disorder is known as osteogenesis imperfecta, a genetic disorder that causes bones to be very fragile and to break easily. In most OI cases, there is a deformity that affects all structures that are made up of Type 1 collagen, like bones, cartilage, and ligaments. This deformity is based on a mutation that causes the genes encoding for type 1 collagen to be effected, and in turn reduces the amount of collagen in the bones. This mutation, most commonly known to be autosomal dominant, can lead to many different types of OI, ranging from a few fractures a year to prenatal death. We need more innovative approaches and better solutions to find a cure for this disease instead of just using braces and surgery that only improves living condition, but does not give patients a normal

What is osteogenesis imperfecta (OI)? OI, formally known as Brittle Bone Syndrome, is a genetic bone disorder that affects the body’s ability to make bones strong which causes the bones to fracture easily, often without any apparent cause. OI affects the collagen in your body which not only makes your bones strong, but also helps the rest of your body stay strong as well. There are 8 different types of OI and all of them differ in range of severity. Type 1 OI is the most common and the mildest form of the 8. OI Type 2 is the most severe. OI can even vary greatly between individuals of the same family (“Osteogenesis Imperfecta,”n.d.). Most cases of OI are caused by a dominant genetic defect. This means that only one copy of the mutation is necessary

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,

What if you couldn’t clap your hands without breaking a bone? Not many people have to worry about this problem, but kids with osteogenesis imperfecta have to worry about it every day. Osteogenesis imperfecta, also known as brittle bone disease is a genetic disorder characterized by bones that break easily, often from little or no apparent cause (Foundation). “Osteogenesis imperfecta is relatively rare. Approximately 20,000 to 50,000 people in the United States have the condition.” (American Academy of Orthopaedic Surgeons).

Osteogenesis Imperfecta (OI), or known as “brittle bone disease,” is a rare genetic disease that causes weak bones that may break easily. “OI is caused by a mutation (change) in a gene that affects bone formation, bone strength and the structure of other tissues.” (+++++++) From infancy through puberty, people with OI can expect frequent bone injuries but, injuries decrease in young adult years. Bone injuries may come back during old age.

In order for one person to be affected with this disease, the person needs to inherit one mutant copy of the disease from each parent, which means the parents are carriers for this disease, or one parent is carrier and the other is the disease patient. The chance for a child of carrier parents to inherit the disease is ¼ (25%). If one of the parents is a fish-eye disease patient and the other parent is the carrier, the chance for each of their children to inherit this disease is ½ (50%). This is a very rare genetic disease. There has been only 30 cases worldwide have been reported in medical

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)