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. Although the subdivisions go by number, the most serious and dreaded is Type II, which is also classified as Vrolik Disease. The symptoms could range from a very mild case, or a very severe case with multiple complications. Usually, Osteogenesis Imperfecta is inherited as autosomal dominant traits, but in some cases, it is otherwise. A common form of the disease is Type I, which does not result in the severe complications and is the most mild out of the four major subdivisions of the disease ("Osteogenesis Imperfecta").
Although there are four main types of Osteogenesis Imperfecta, the most common and most mild version of the disease is classified as Type I. Like other versions of the disease, the main consequence of Type I is easily fractured bones. Since is the mildest version, most fractures occur before reaching puberty, but can sometimes occur to women when they enter the menopause phase. A unique part of this subdivision is that it can cause curvature of the spine also known as Scoliosis. The face is also affected by having a triangular face, blue sclera, and a lot of dental problems. The disease can also cause hearing loss by the time they are in their 20s or 30s. Another similarity it shares with the other subdivisions of the disease is that it runs in the family. Type I is also known as Lobstein Disease (“Osteogenesis Imperfecta-Bone Diseases and Disorders”).
Type II affects only 10% of the people with Osteogenesis Imperfecta, but it is the most severe and most deadly. People who have this disease have extremely fragile bones and are prone to deformities. The cause of this is a genetic mutation is that a collagen is deformed. Most people who receive the...
Cited: "Osteogenesis Imperfecta." WebMD Children 's Health Center - Kids health and safety information for a healthy child. 3 Jan. 2007. WebMD. 03 Feb. 2009 .
"Osteogenesis Imperfecta-Bone Diseases and Disorders." University of Maryland Medical Center. 11 Feb. 2009 .
Osteogenesis Imperfecta Foundation:. 11 Feb. 2009 .
"MedlinePlus: Osteogenesis Imperfecta." National Library of Medicine - National Institutes of Health. 11 Feb. 2009 .
"Osteogenesis Imperfecta." Cleveland Clinic. 11 Feb. 2009
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