Osteogenesis Imperfecta Disease (OI)

Signs and symptoms vary based on the type of Osteogenesis Imperfecta the patient has. The most common type is Type I. This is a mild type of the disease and often is not diagnosed until adulthood. Some common symptoms are brittle teeth, hearing loss in some cases, blue sclera, easy bruising, and mild delay in motor skills. In most cases there is little or no bone deformity, normal height,

2). In addition, this disease causes death, short stature, blindness, and hearing loss. “Seventy percent of children with malignant infantile osteoporosis die by the age of six years, and almost 100 percent do not live to the age of 10 years” (Stocks et al., p. 2). The main cause of death is bone marrow failure, due to non-functioning osteoclasts. Some children will also have delays in muscle coordination, nerve compression, low levels of iron, crossed eyes, tooth decay, abnormal hardening of the bones, and fractures. (“Osteopetrosis,” 2008).

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

Survival of the Sickest is a fascinating book that explores why we need disease and how different diseases have evolved from the beginning of time. Author, Dr. Sharon Moalem goes beyond the surface and answers many questions about evolution and disease for example, “Was diabetes evolution’s response to the last Ice Age?” and many others. Dr. Moalem shares how many of the diseases that we call harmful today have actually proven to be beneficial to survival for our ancestors. This book shows how every single thing that our ancestors have done in the past from the environment they lived in to the food they ate can be seen in our genetic code. Survival of the Sickest does not solely focus on the history of disease and evolution, it shows the reader

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,

Like the world around us the medical field is always changing. It is always pushing forward, trying to understand mysteries of the human body that have boggled researchers for decades. What confuses scientists more, are the organisms or conditions that create these abnormalities that can send the human body into a downward spiral. Disease is something that has affected human civilization since the dawn of time. It can either be chronic or acute, but in either case it has the potential to bring havoc to the human body systems that can lead to devastating consequences. Generally there are two main types of diseases, ones caused by invading pathogens and those which are hereditary. One hereditary disease that can be particularly tragic is

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

Some of the signs of FOP are the malformation of the big toe at birth, which can be short, bent or curved inward and help clarify the diagnosis ("IFOP a website," 30 M). However, sometimes the doctors overlook this malformation in that cases there are other signs you can look for. As infants most children crawl on there hands and knees though, infants with FOP rather than crawling they usually scoot on their gluteus maximus; then proceed straight to walking. The reason for this is ether the facet joints in the neck did not form properly or they have fused together ("IFOP a website," 30 M). Although, with FOP being congenital it starts before birth, though the extra bone growth does not. Symptoms often or usually begin in the first two decades of life and most people who are affected find out they have FOP before the age of ten ("IFOP a website," 30 M). Inflammation of the soft tissues in the body such as muscles, tendons and ligaments throughout become swollen and sometimes painful and often appear to be tumors ("IFOP a website," 30 M). However, once the swelling subsides it leaves behind a new piece of mature bone ("IFOP a website," 30 M). Typically, the inflammation and bone growth occurs in the shoulders, neck and upper back regions in early child hood followed by the areas of the spine, chest, elbows, wrists, hips, knees, ankles and jaw ("IFOP a website," 30 M). However, the growth rates of new bone

I like most people have to overcome challenges in my life, my challenge is my bone condition, Osteogensis Imperfecta (OI). I didn't develop OI overnight, this bone condition is a mutation in the making for type one collagen that I inherited. I have inherited this genetic condition from my dad. His inheritance is unknown. Osteogensis Imperfecta causes my bones to be more fragile and break, and I will be affected by this challenge my whole lifetime. OI causes collagen and other tissues to be a low 'supply' for my body. In this time in history there is no cure.

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

Imagine having a baby. You are completely in love with this baby. You watch him grow, learn to rollover, and say his first words. After getting to know this baby so well, and being in complete adoration, your precious 1 year old dies. Or what if you get to know your child for 12 years, but then you have to watch them die slowly from suffocation because their lungs have inflamed too much for them to breathe. This happens because of genetic disorders. The first example, SCIDs, second example, Cystic Fibrosis. Where do humans get these diseases? From human genes. Researchers are just beginning to use genetic technology to reveal the genomic contributions to these different phenotypes, and as they do so, they are also discovering a variety of other

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

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

The major defect in Osteomalacia is a deficiency of activated vitamin D , which promotes calcium absorption from the gastrointestinal tract and facilitates mineralization of bone.