Osteogenesis Imperfecta

By Vishal Shetty

What is Osteogenesis Imperfecta?

Osteogenesis Imperfecta has multiple types of genetic diseases where the bones lack collagen which causes them to be formed improperly. Because of this, the bones are fragile and can break easily.

Inheritance requirements

This disease can be inherited from either parent. It is usually inherited as an autosomal dominant condition. They are located on the "non-sex" chromosomes. It takes only one carrier parent for a kid to have a 50% chance of inheriting the disease from their parents.
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Current Research/Studies

It is concluded by scientists that Osteogenesis Imperfecta is caused by gonadal mocasicism which is a mutation that is available in the parent's reproductive cells. There are also four different types of Osteogenesis Imperfecta. Type II is the most serious one. It can be fatal shortly after an individual's birth.

Symptoms

The symptoms depend on the type of Osteogenesis Imperfecta a person has. The most common ones include bone deformity, asthma, brittle teeth, cardiac issues, hearing loss in early 20's or 30's, loose joints, spine curves.
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Treatments

Currently, there is no available cure for Osteogenesis Imperfecta. But there are treatments that are focused to help people with Osteogenesis Imperfecta by fixing bone deformities. The tools that are used are splints, casts, braces, rods, hearing aids, and dental caps. The hearing aids are for the hearing loss caused by the disease.

Tests

Collagen and DNA tests can help identify if a person has Osteogenesis Imperfecta. X-Rays can also find the disease by checking a person's bone structure.

Citations

"Facts about Osteogenesis Imperfecta." Osteogenesis Imperfecta Foundation.
Osteogenesis Imperfecta Foundation, Aug. 2015. Web. 5 Apr. 2016.
<http://www.oif.org/site/PageServer?pagename=AOI_Facts>.


"Osteogenesis Imperfecta." The Gale Encyclopedia of Genetic Disorders. 2010.
Science in Context. Web. 5 Apr. 2016.


"Osteogenesis Imperfecta (OI)." Encyclopaedia Britannica Online. N.p., Jan.
2014. Web. 5 Apr. 2016. <http://www.britannica.com/science/
osteogenesis-imperfecta>.