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Brittle Bone Disease

Genetic Disorder Project 2013

Taylor Sharp

on 9 May 2013

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Transcript of Brittle Bone Disease

By, Taylor Sharp What is it? How do I know? What happens? Symptoms: Who does this affect? Osteogenesis Imperfecta is a genetic condition causing extremely fragile bones.

A defect in the gene that produces collagen, an important building block of the bone. Suspected in people whose bones break with ease.

If there is a family history, then a DNA blood test is put in place to find out. Once you inherit the disease, there is a 50% chance that you will pass it onto your children.

If you have one copy of the gene, then you have the disease. Severe:
Bowed legs and arms
Scoliosis Brittle Bone Disease Classic:
Blueish tint to the whites of the eyes
Multiple bone fractures
Early hearing loss This is the skull of a person with Brittle Bone Disease. As you can see, it is deformed from so many fractures. This can affect people of all races and mostly women.

This disorder can really affect a person's
social, emotional, and family life. How can this affect my life?
(social/emotional/family) Emotional Life This disease affects people at a young age so their confidence may lower.

People can go to therapy to learn how to deal with the disease and raise their self esteem. This graph shows the number of women diagnosed with OI over 20. Social Life Many children with OI will develop body image problems as they enter their teenage years; this may deter people because of their abnormalities.

Just because someone looks different, doesn't mean you can't interact
with them Family Life People with OI may have trouble walking due to the fractures in their bones and need a wheelchair or leg braces.

They will need assistance putting the braces on and being pushed in the wheelchair. Ways technology/medicine can help Technology There is no technology to help someone with this disease.

There are leg braces and wheelchairs to help out. Medication Bisphosphonates are drugs that have been used to partially treat OI.
It increases bone density to reduce fracture rate and pain This is a diagram of what some possible signs are for OI. http://www.dinf.ne.jp/doc/english/global/david/dwe002/dwe00215.html http://www.flickriver.com/photos/jgmundie/2274491260/ http://mchb.hrsa.gov/whusa04/pages/ch2.htm Works Cited "Brittle Bone Disease in Ancient Egypt - a Photo on Flickriver." Brittle Bone Disease in Ancient Egypt - a Photo on Flickriver. N.p., n.d. Web. 08 May 2013.

N.p., n.d. Web.

"Women's Health USA 2004." Women's Health USA 2004. N.p., n.d. Web. 08 May 2013. An original drawing of the Brittle Bones Society symbol. For more information visit the link above.
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