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Osteogenesis imperfecta (IPA: / ˌ ɒ s t i oʊ ˈ dʒ ɛ n ə s ɪ s ˌ ɪ m p ɜːr ˈ f ɛ k t ə /; [4] OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily.
Figures in film, television, video games and novels depicted as having osteogenesis imperfecta include: Samuel L. Jackson's character Elijah Price in M. Night Shyamalan's 2000 film Unbreakable and its 2019 follow-up Glass, who was born with type I osteogenesis imperfecta and who adopts his childhood nickname "Mr. Glass" as a villain identity. [62]
The genetics of Bruck syndrome differs from osteogenesis imperfecta. Osteogenesis imperfecta usually involves autosomal dominant mutations to COL1A1 or COL1A2 which encode type 1 procollagen. [ 6 ] Bruck syndrome is linked to mutations in two genes, and therefore is divided in two types.
DI associated with Osteogenesis Imperfecta (OI). [ 2 ] [ 5 ] [ 10 ] Type of DI with similar dental abnormalities usually an autosomal dominant trait with variable expressivity but can be recessive if the associated osteogenesis imperfecta is of recessive type.
Sillence created the standard four-type system of osteogenesis imperfecta in 1979. [8] It enabled progress into the molecular causes of the disorder and collagen mutations. In 2012, Sillence delivered the Human Genetics Society of Australasia Oration, a prestigious lecture in his field. [9]
Osteogenesis imperfecta, a juvenile bone disease; Fibrodysplasia ossificans progressiva, an extremely rare genetic disease which causes fibrous tissue (muscle, tendon, ligament etc.) to ossify when damaged; Primrose syndrome, a rare genetic disease in which cartilage becomes ossified.
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Individuals who have or had osteogenesis imperfecta. Pages in category "People with osteogenesis imperfecta" The following 44 pages are in this category, out of 44 total.