Osteogenesis imperfecta, commonly called brittle bone disease, is a genetic disorder. It is an autosomal dominant disease, which means a person can get if only one of their parents has the abnormal gene. OI affects the part of the bones called the collagen rod, which provides bone strength. It mutates, weakens or even destroys the collagen rod. This disease was first identified by Vrolik in 1854.
Symptoms[change | change source]
Less severe symptoms of OI may include:
- easily broken bones
- loose joints
- low muscle tone
- blue, purple or grey 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 | 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]
- "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.