Other Names for this Disease
- Brittle bone disease
- Vrolik disease
- Fragilitas ossium
- Lobstein disease
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dentinogenesis imperfecta) and hearing loss in adulthood. Other features may include muscle weakness, loose joints, and skeletal malformations. There are various recognized forms of OI which are distinguished by their features and genetic causes. Depending on the genetic cause, OI may be inherited in an autosomal dominant (more commonly) or autosomal recessive manner. Treatment is supportive and aims to decrease the number of fractures and disabilities.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 little or no trauma. Severity varies among affected people. Multiple fractures are common, and in severe cases, can even occur before birth. Milder cases may involve only a few fractures over a person's lifetime. People with OI also have dental problems (
Last updated: 10/6/2015
- Osteogenesis imperfecta. Genetics Home Reference. April, 2013; http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta.
- Learning About Osteogenesis Imperfecta. NHGRI. August 15, 2012; http://www.genome.gov/25521839.
- John F Beary, III and Arkadi A Chines. Osteogenesis imperfecta: Clinical features and diagnosis. UpToDate. Waltham, MA: UpToDate; September, 2015;
- Genetics Home Reference (GHR) contains information on Osteogenesis imperfecta. This website is maintained by the National Library of Medicine.
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