Osteogenesis Imperfecta

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Osteogenesis imperfecta, commonly called brittle bone disease, is a genetic disorder.[1] It is an autosomal dominant disease, which means a person can get if only one of their parents has the abnormal gene.[2] OI affects the part of the bones called the collagen rod, which provides bone strength. It mutates, weakens or even destroys the collagen rod.[3] This disease was first identified by Vrolik in 1854.[4]

Symptoms[change | change source]

Less severe symptoms of OI may include:

OI has many other serious and fatal symptoms including respiratory problems and bone deformity.

Demographics[change | change source]

OI occurs equally in both male and females and can affect all ethnic groups. OI happens in the womb and there is no cure. It is usually discovered when someone breaks a lot of bones; they may have DNA testing to check for OI. It occurs in 1 in 20,000 births.

References[change | change source]

  1. "Osteogenesis Imperfecta Foundation:". oif.org. http://www.oif.org/site/PageServer?pagename=AOI_Facts. Retrieved 13 September 2010.
  2. "Autosomal dominant: MedlinePlus Medical Encyclopedia". nlm.nih.gov. http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm. Retrieved 13 September 2010.
  3. "Osteogenesis Imperfecta Foundation: Understanding Bone Structure". oif.org. http://www.oif.org/site/PageServer?pagename=BoneStruct. Retrieved 13 September 2010.
  4. Wilson, Jennifer F. "Osteogenesis Imperfecta." Gale Encyclopedia of Genetic Disorders. Canada, 2002. Print.