Osteogenesis imperfecta
A group of inherited connective tissue diseases, all of which result from mutations that affect collagen in connective tissue in the body, and all of which result in fragile bones. The best known types of osteogenesis imperfecta are types I and II. Also known as brittle bone disease.
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- Osteogenesis imperfecta congenita
Osteogenesis imperfecta type II.
- Osteogenesis imperfecta tarda
Osteogenesis imperfecta type I.
- Osteogenesis imperfecta type 1
An inherited connective tissue disorder featuring bone fragility and blue sclerae (blue whites of the eyes). This is the classic form of “brittle bone disease.” Osteogenesis imperfecta type 1 is an autosomal dominant trait. (One copy of the mutant gene is enough to cause the disease in males and females in successive generations.) The disease […]
- Osteogenesis imperfecta type 2
An inherited connective tissue disorder with extremely severe bone fragility. This is the lethal form of “brittle bone disease.” Osteogenesis imperfecta type 2 is a recessive trait with males and females affected. Two copies of the mutant gene are needed to cause the disease. The disease is characterized by short limb dwarfism, thin skin, soft […]
- Osteogenesis imperfecta with blue sclerae
Osteogenesis imperfecta type I.