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Home :: Family Health :: Osteogenesis Imperfecta Osteogenesis Imperfecta - Osteogenesis Imperfecta symptom, treatment, causesOsteogenesis Imperfecta can be defined as the abnormally fragile bones due to a genetic defect of connective tissue formation, which also causes the whites of the eyes to appear blue, and often dea-ness due to OTOSCLEROSIS (damage to the tiny bones in the middle ear). Osteogenesis imperfecta varies in severity. Badly affected babies may be born with multiple fractures, and do not usually survive for long. Those with less severe disease suffer multiple fractures in childhood (often resulting from minor injuries); brain damage from skull fractures and subsequent bleeding within the skull is another risk. There is no effective treat ment. Fractures are immobilised in the usual way and generally heal in the normal time, but repeated fractures may lead to skeletal deformities. Genetic counselling is offered to parents of affected children so that the risk in future pregnancies can be estimated. Osteogenesis imperfecta (sometimes known as Brittle Bone Disease ) is a group of genetic bone disorders. It also causes fractures in adults. There are at least four recognized forms of the disorder, representing extreme variation in severity from one individual to another. For example, a person may have just a few or as many as several hundred fractures in a lifetime. While the number of people affected with OI in the United States is unknown, the best estimate suggests a minimum of 20,000 and possibly as many as 50,000. People with OI either have less collagen than normal or the quality is poorer than normal. As collagen is an important protein in bone structure, this impairment causes those with the condition to have weak or fragile bones. As a genetic disorder, OI is an autosomal dominant defect. Most people with OI receive it from a parent but it can also be an individual ( de novo or "sporadic") mutation. Despite its prevalence and frequently severe effects, many people don't know this disorder exists. In fact, some parents who are not aware that their child has OI, have been accused of child abuse when they are unable to explain the cause of their child's fractures. Osteogenesis imperfecta is a congenital (present from birth) condition of abnormal fragility of the bones. As the name indicates, the disease affects the bones during their formation in vivo and renders them brittle. This condition occurs in two forms one is present at birth and the other manifests later in childhood. Almost all infants with the former type of Osteogenesis imperfecta are stillborn or die shortly after birth. Most adults and children with osteogenesis imperfecta lead productive and successful lives. OI is a genetic disorder usually resulting from abnormalities of the genes that control the production of a protein called collagen which is the main protein in bone and essential for its strength. The fragility of bone in OI is due to the collagen problems; it has nothing to do with the calcium part of bone, which is what shows up on X-rays . Causes of Osteogenesis ImperfectaThe common Causes of Osteogenesis Imperfecta :
Symptoms of Osteogenesis ImperfectaSome common Symptoms of Osteogenesis Imperfecta :
Treatment of Osteogenesis Imperfecta
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