Osteogenesis Imperfecta Essay

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.

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

Osteoporosis is a disorder of bones that affects bones making them low in bone mass fragile and will lead to bone fracture. Bone fracture will easily occur as this disease cause the matrix inside the bone become weak and brittle.Bones can become so brittle due to activities such as coughing can cause fractures.According to Macgill (2015) the origin of the word osteoporosis explain the condition of ‘osteo’ is for bone and ‘porosis’ means porous that resulting in weakness. At this condition, the bone tissue is mineralized normally, but the production is not enough to preserve the normal skeletal architecture. 80% of women and 20% men of 28 million American are affected with the osteoporosis. Approximately, women with the age of 50 will develop osteoporosis. Thin bones are the cause of 1.5 million fractures a year. As in Malaysia, the statistic shows that osteoporosis related to fractured is the common health problem especially in elderly..

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’.

Osteogenesis imperfecta can range from mild to severe and the symptoms are different in each person, and category of the disease. Some of the symptoms that could manifest the people who suffer osteogenesis imperfecta are malformations of the bones, short stature and small body, loose joints, weak muscles, curved spine, brittle teeth, respiratory problems, failures of collagen type 1, lack of collagen, and deafness (). In addition, height is often to be normal. Fractures are not usually present at birth but appear when the patient begins to walk and falls to the ground during the growth period. Usually, the frequency of fractures decreases in adulthood, where hearing loss may

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

Osteogenesis imperfecta (OI) is a disease that causes your bones to break easily, it is also known as brittle bone disease, fragilitas ossium and vrolik disease. OI typically is considered to be a dominantly inherited disorder. Most cases of OI that have been reported have an autosomal dominant pattern. Many people who have this disease have it because they have inherited a mutation from their parent. In some cases, it may have an autosomal recessive pattern. This would be cased due to both parents carrying one copy of the gene. The genes affected are COL1A1, COL1A2, CRTAP, and P3H1.

Osteogenesis Imperfecta (OI) is a genetic disorder that involves defective development of the connective tissue. The collagen production found in bones and other tissue is affected by a gene mutation. It is also known as “brittle bone disease.” Osteogenesis Imperfecta is inherited as an autosomal-dominant trait. It is characterized by abnormally brittle and fragile bones that are easily fractured by the least amount of trauma. OI affects both boys and girls the same and one out of 10,000 live births have been confirmed with the disease. There are four types of IO, they are type I, type II, type III and type IV. With type 1 being more common in infancy with a normal life expectancy expected. This paper will discuss the physical signs of OI, how this disease is often mistaken in child abuse cases and the nurses’ role in caring for the child with OI. (Ball, Bindler, & Cowen, 2015)

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.

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,

     Osteoporosis is a health ailment which causes bones to become so porous that they can break easily. Osteoporosis literally means 'porous bones'. The bones in our skeleton are made of a thick outer shell and a strong inner mesh filled with collagen [protein], calcium salts and other minerals. The inside looks like honeycomb, with blood vessels and bone marrow in the spaces between bone. Osteoporosis occurs when the holes between bone become bigger, making it fragile and liable to break easily. Osteoporosis usually affects the whole skeleton but it most commonly causes breaks or fractures to bone in the wrist, spine and hip.

There are numerous factors that contribute to the development of this horrible disease, but the most important factor is vitamin D deficiency. When the minerals in osteoid crystallize, they require adequate concentration of calcium and phosphate. When the concentration is not at the correct level, ossification does not proceed normally (Huether & McCance, 2008). Vitamin D regulates the absorption of calcium from the intestine. When there is a lack of vitamin D, the concentration of calcium begins to fall (Huether & McCance, 2008). The body begins to regulate this calcium drop by increases the amount of PTH synthesis and secretion (Huether & McCance, 2008). An increase of PTH causes a clearance of phosphate and without the correct levels of phosphate mineralization of the bones cannot proceed in the correct manor (Huether & McCance, 2008). The abnormality of bone growth can occur in spongy and compact bone (Mayo