What is Osteogenesis Imperfecta?
Osteogenesis Imperfecta (OI) is a genetic disorder that causes extreme brittleness of one’s bones. A person with this disorder is liable to experience bone breakage, even when there is little or no pressure applied. Little events of trauma could also break someone with OI’s bones. This characteristic forms the basis of the disease’s alternate name “the brittle bone disease”, along with other names like Vrolik disease, and Fragilitas Ossium.[1] Additionally, osteogenesis imperfecta is usually autosomal dominant, meaning only one copy of gene results in having the genetic disorder. The severity of the disease differs from person to person and a specific gene defect determines the severity.[2] There are four major types of OI, distinguished mostly by fracture frequency and severity. Overall, there are eight plus types of OI. Type I OI is the mildest type of the disease, and Type II OI is the most severe.[3] OI is often paired with Dentinogenesis Imperfecta, a genetic disease that causes one’s teeth to be very weak and fragile. Other side effects of OI include muscle weakness, loose joints, skeletal malformations, and hearing loss. Approximately one in every twenty thousand people is afflicted with OI. Life expectancy of individuals with the disease varies depending on the severity of the disorder within each individual.[4]
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Videos:
1. https://youtu.be/bAhYdIj2-GU
2. https://youtu.be/IAhs-piej1o
Sources:
[1] "Fast Facts - Osteogenesis Imperfecta Foundation | OIF.org." 2008. 30 Mar. 2015 <http://www.oif.org/site/PageServer?pagename=fastfacts>
[2] "Osteogenesis imperfecta: MedlinePlus Medical Encyclopedia." 2002. 30 Mar. 2015 <http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm>
[3] "Osteogenesis imperfecta - Genetics Home Reference." 2010. 30 Mar. 2015 <http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta>
[4] "Learning About Osteogenesis Imperfecta." 2009. 30 Mar. 2015 <https://www.genome.gov/25521839>