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Osteogenesis Imperfecta Presentation
Symptoms
- Loose, unstable joints.
- A curved and twisted spine.
- Hearing loss.
- Abnormally fragile, discolored (bluish-yellow) teeth.
- Weak bones that break easily.
- Thin,fragile skin.
- A high risk of complications such as hernias and heart valve abnormalities.
Testing and Screening
DNA testing can be performed to find out if you have the disease and/or if you are a carrier of the disease.
Facts
- It occurs in about one of every 30,000 births. About 20,000 to 50,000 people in the United States, in any one year, have this disease,which affects males and females of all races.
- Both men and women have an equal chance of having Osteogenesis Imperfecta.
- There is also a equal frequency amound racial types.
Osteogenesis Imperfecta
Treatment
Cause
A group of genetic diseases in which the bones are formed improperly, making them fragile and likely to break.
A sex-linked gene,that most people don't get commonly from their mother or father.
- Treatment for Osteogenesis Imperfecta include fracture care,bracing,surgical procedure,and medication. Hearing aids are also used to help with the hearing lost.
- The disease is not life-ending.
Interesting Facts
- 10-15% of OI cases result in a recessive mutation.
- If one child is born with OI, the same parents have a 25% chance of having another baby with OI.
https://sites.google.com/site/osteogenesisimperfecta304/interesting-facts
Resources
http://ic.galegroup.com/ic/scic/ReferenceDetailsPage/ReferenceDetailsWindow?failOverType=&query=&prodId=SCIC&windowstate=normal&contentModules=&display-query=&mode=view&displayGroupName=Reference&limiter=&currPage=&disableHighlighting=false&displayGroups=&sortBy=&search_within_results=&p=SCIC&action=e&catId=&activityType=&scanId=&documentId=GALE%7CCV2191500940&source=Bookmark&u=bcps&jsid=8aa7e07805fe7bf3878699e2402881f5