Splinting devices are used to stabilize the bones and to protect against additional fractures. Also, muscles are generally underdeveloped with very loose joints.
We will write a custom essay sample on Osteogenesis Imperfecta Order now Since is the mildest version, most fractures occur Osteogenisis imperfecta essay reaching puberty, but can sometimes occur to women when they enter the menopause phase. Discolored blue-gray or yellow-brown and malformed teeth which break easily and are cavity prone are found in patients Patients with OI have a triangular-shaped head and face, a bilaterally bulging skull, and prominent eyes with a wide distance between the temporal region.
The disease can also cause hearing loss by the time they are in their 20s or 30s. Other collagen-containing extraskeletal tissues, such as the sclerae, the teeth, and the heart valves are also affected to a variable degree.
People who have this disease have extremely fragile bones and are prone to deformities. Without proper testing for the disease, families have been torn apart because of CPS getting involved because of the xrays showing multiple fractures or fractures that healed improperly and blaming it on the parents.
The tendency to fracture decreases and often disappears after puberty.
Monitoring by opthalmol- ogists for vision and audiologits for hearing is also essential. The subdivision of the disease that is most associated with underdevelopment and is not as known for fractures past birth is Type III.
Osteogenisis imperfecta is the result of mutations in the genes for type I collagen. With this being said, even the strongest bones can be broken fairly easily.
This type is broken down into three subgroups: A DXR scan can also be done to determine bone density, which plays a major role in Osteogenesis Imperfecta.
They were classified by physical characteristics and functional capacity: The most commonly used classification is the Sillence type I to IV: The height of the child in terms of expected growth, signs of scoliosis or laxity of ligaments, and range of motion of the joints are all important.
With the current technology available, doctors are able to x-ray a fetus inside the uterus to see if there are any fractures present.
Patients may only receive the medicine under extensive medical care. Later in life, particularly during pregnancy and after menopause, more fractures occur. The difference between the two is that Type III often causes a much smaller stature, which can stretch the extreme of only three feet tall.
The people I have met, the challenges I have faced, the opportunities that I have been presented — all are directly related to dealing with being a little person with brittle bones. Thoracic deformities may impair chest expansion and the ability to effectively breath deeply and cough.
Relevance Osteogenesis Imperfecta is a rare, genetic disorder that not many people know about. Smith,The clinical signs can be caused from defective osteoblastic activity and defective mesenchymal collagen embryonic connective tissue and its derivatives, such as sclera, bones, and ligaments.
Most people who receive the disease are lucky to survive being an infant because that is when the disease is most threatening. Physical therapy is also used for strengthening muscle and preventing disuse fractures with exercises with light resistance, such as swimming.
The appearance of the sclerae and tympanic membranes and defects of primary teeth and gums are important. Prenatal ultrasonography is used to detect severely affected fetuses at about 16 weeks of pregnancy.
Often, cases of OI go undiagnosed, but simple testing can help to diagnose the disorder before worse things can happen. The bones in the child with Brittle Bone Disorder are much weaker than those of children without the disease. The haversian cells are poorly developed. The doctors often overthink the fact that it could actually be OI and directly assume that it could be child abuse.
The kayotypes of parents are usually normal.Osteogenesis Imperfecta Essay. Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder with the main characteristic being that the bones break very easily, usually for no apparent reason.
The major cause of osteogenesis imperfecta is. Osteogenesis Imperfecta Essay - Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare genetic disorder with the main characteristic being that the bones break very easily, usually for no apparent reason.
The major cause of osteogenesis imperfecta is a mutation in the genes that produce collagen.
Osteogenesis imperfecta is a genetic disorder caused by defective type I collagen synthesis. The purpose of this study was to evaluate the results of ender nailing of the bones of the lower extremities in children and adolescents patients with osteogenesis imperfecta.
Treatment of Osteogenesis Imperfecta by bisphosphonate therapy can improve bone mass in all types of the disorder, and while not being a cure for the disorder does improve the quality of life of the patient. This paper will examine the causes, treatment, and prognosis of Osteogenesis Imperfecta.
Osteogenisis imperfecta (OI) is “a rare genetic disorder of collagen synthesis associated with broad spectrum of musculoskeletal problems, most notably bowing and fractures of the extremities, muscle weakness, ligamentous laxity, and spinal deformities.” (Binder, ).
Osteogenesis Imperfecta Osteogenesis Imperfecta is a rare hereditary disorder that affects the connective tissue and causes extremely brittle bones which are in turn easily broken and deformed.
There are multiple subdivisions of the disorder, ranging from Type I, Type II, Type III, and Type IV.Download