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joint laxity
curved bones Scoliosis brittle teeth short stature blue sclera fragile skin
WHO?
persons lifespan could be affected very little, while it can also be drastically affected. There are 8 different types of OI. Similar symptoms may occur in all types of OI with varying severity. Different symptoms may also show
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How is OI treated?
There is no cure for OI as of right now. However, there are some ways of dealing with the disorder. Biophosphonates and other medicines are used to make bones stronger and more dense, and surgically placing rods in the bones of the legs often help prevent major fractures. There are minor symptoms of the biophosphonates, including stomach upset and heartburn. On a regular basis, doctors and families focus on mobility and safe exercise such as swimming and physical therapy, as well as keeping fracture numbers to a minimum. Braces, wheelchairs, and casts are useful aids as well.
Support Groups
The Osteogenesis Imperfecta Foundation is a major organization that helps educate people about OI. It also gives reference to several people whom you can contact about local support groups near you.
Dominant or Recessive? About 85%-90% of OI cases that are inherited are inherited in dominant manner. There are some rare instances where the disorder is recessive an autosomal however. The different inheritance patterns may also deal with slightly different genes.
The mutations that cause collagen problems can affect either the quantity of collagen or the quality of the collagen produced.
The gene for Osteogenesis Imperfecta is located on chromosome 17 which has 81 million base pairs.
INTERESTING FACTS
*Parents of children with OI are often accused of child abuse, which is why they are advised always to carry a document stating their childs condition so that their kids arent taken from them at any point.
*OI was recognized in an Egyptian mummy that is dated back to 1000 BC.
oif.org
genome.gov
orthoinfo.aaos.org Dnarss.com
Ghr.nlm.nih.gov