Analysis Of Osteogenesis Imperfecta ( Oi ) Is A Genetic Disorder That Involves Defective Development Of The Connective Tissue

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).

Osteoporosis, meaning porous bone from the Greek language, is bone disease that gradually and steadily wears down bone tissue and its living cells. This wearing down will eventually cause the cells of bone tissue to degrade and die, leaving their “scaffolding” to be the only things only bone together. Without living cells to take up a home in this scaffolding, minor injuries such as falls, bumping into objects, and pressure that would normally be completely and would not pose any threat to bone tissue suddenly becomes a real hazard that can easily pose a threat to one’s well-being. Osteoporosis affects a person skeletal system.

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,

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

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

The first known case of osteopetrosis was reported by the German radiologist Albers-Schönberg. Osteopetrosis, by definition, is, "a disorder in which an imbalance in the formation and breakdown of bone causes bones to be overly dense, yet weak and prone to break easily". There are two main forms that osteopetrosis comes in: malignant infantile and adult. The malignant infantile form can diagnosed during or shortly after birth and can immensely shorten the infant's life expectancy. The more formal name for the malignant infantile form is, autosomal recessive osteopetrosis. The other major form, the adult form, seems to be more milder and may not be diagnosed until adolescence or adulthood. The formal name for the adult form is, autosomal dominant osteopetrosis. There are a variety of different symptoms that can become apparent but the most common symptoms seem to be: bone fractures, low blood cell levels, impaired vision and hearing, and dental problems related to infection. I have already stated how the malignant infantile form is diagnosed, but how is the adult form diagnosed? It seems that, bones in patients with osteopetrosis appear abnormally dense and chalky whitish on x-rays. Bone biopsies are generally not recommended. Doctors may also use other tests to diagnose and gain additional information about specific problems that are related to osteopetrosis.

Osteoarthritis is a degenerative joint disease. It’s where flexible tissues in the end of the bones wear down. It mostly occurs in knees, hips, lower back, fingers, and the neck. In Osteoarthritis, the cartilage in the bone breaks down which causes pain, swelling, and problems in moving the joint. When it worsens over time, one can get spurs, where bones break down and develop growths. Even though this can occur in anyone, ones who are over the age of 65 will most likely get Osteoarthritis. Some risk factors will include the increasing of age, obesity, genes, weak joint muscles, previous joint injury, and the overuse of the joint in the body. Some related signs/symptoms can be swelling around a joint, stiff joint, and/or having a clicking sound

Such diseases are more common in areas such as Great Britain, Pakistan, and India (Huether & McCance, 2008). “This disease is prevalent in elderly persons and in premature infants of very low birth weight” (Huether & McCance, 2008). Commonly Osteomalacia is confused with Osteoporosis. However, these two diseases, although similar, are not the same. “Osteomalacia results from a defect in the bone-building process, while osteoporosis develops due to a weakening of the previously constructed bone” (Mayo Clinic Staff, 2011).

Osteomalacia may be asymptomatic and present radiologically as osteopenia. It can also produce characteristic symptoms, independently of the underlying cause, including diffuse bone and joint pain, muscle weakness, and difficulty walking .

Shiel (2017) states that osteoporosis usually does not show any signs or symptoms in the early stages of bone loss and may be without symptoms for decades. Osteoporosis doesn’t show symptoms until bone fractures and fractures may not be recognized for years when the bone disease does not cause any symptoms. (Shiel, 2017, paragraph 1). In some cases, people are unaware of having osteoporosis until they experienced suffering from a painful fracture. (Shiel, 2017, paragraph 1). Mayo clinic states “the signs and symptoms of osteoporosis are back pain caused by fracture or collapsed vertebrae, loss of height overtime, a stooped posture, and/or a bone fracture that occurs more easily than expected”. (Mayo

There are three types of achondrogenesis. In all three types narrow chest and short limbs are all common. Symptoms for Type 1A achondrogenesis is soft skull bone, poorly formed pelvic and spinal bones, and short and easily breakable ribs. Though the signs of achondrogenesis will be apparent to the human eye, x-rays can be done to examine the bones to make certain the child suffers from this rare