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Other Names for this Disease
- Brittle bone disease
- Fragilitas ossium
- Vrolik disease
- Osteogenesis imperfecta congenita microcephaly and cataracts
- Osteogenesis imperfecta Levin type
- Osteogenesis imperfecta type 1
- Osteogenesis imperfecta type 1A
- Osteogenesis imperfecta type 2A
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Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime. There are at least eight recognized forms of osteogenesis imperfecta, designated type I through type VIII. The types can be distinguished by their signs and symptoms, as well as by genetic factors. Depending on the genetic cause, OI may be inherited in an autosomal dominant (more commonly) or autosomal recessive pattern.
- Osteogenesis imperfecta. Genetics Home Reference (GHR). http://ghr.nlm.nih.gov/condition=osteogenesisimperfecta. Accessed November 11, 2011.
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