Osteogenesis Imperfecta
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]
Less severe symptoms of OI may include:
- easily broken bones
- loose joints
- low muscle tone
- blue, purple or gray color to the normally white part of the eyes
- triangular shape of face
- tendency to develop scoliosis
- brittle teeth
OI has many other serious and fatal symptoms including respiratory problems and bone deformity.
Demographics [change]
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]
- ↑ "Osteogenesis Imperfecta Foundation:". oif.org. http://www.oif.org/site/PageServer?pagename=AOI_Facts. Retrieved 13 September 2010.
- ↑ "Autosomal dominant: MedlinePlus Medical Encyclopedia". nlm.nih.gov. http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm. Retrieved 13 September 2010.
- ↑ "Osteogenesis Imperfecta Foundation: Understanding Bone Structure". oif.org. http://www.oif.org/site/PageServer?pagename=BoneStruct. Retrieved 13 September 2010.
- ↑ Wilson, Jennifer F. "Osteogenesis Imperfecta." Gale Encyclopedia of Genetic Disorders. Canada, 2002. Print.
