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Osteogenesis imperfecta is a group of genetic disorders, all of which cause bone fragility. OI has high genetic heterogeneity , that is, many different genetic mutations lead to the same or similar sets of observable symptoms ( phenotypes ).
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]
Pages in category "People with osteogenesis imperfecta" The following 44 pages are in this category, out of 44 total. This list may not reflect recent changes .
The researchers looked at 181 potential risk factors, and then estimated how likely they are to predict dementia and cognitive impairment for people two, four, and 20 years after they turn 60.
It is not necessarily caused by any disease, but is common in individuals with Osteogenesis Imperfecta. [1] In a broader sense, triangular face encompasses a constellation of a hypoplastic face with prominent zygomatic arches, orbital hypertelorism, sunken cheeks, down-turned mouth, and occasionally brownish facial discolouration. [2]
Pre-dementia or early-stage dementia (stages 1, 2, and 3). In this initial phase, a person can still live independently and may not exhibit obvious memory loss or have any difficulty completing ...
English: X-ray of a 24-year-old man clinically diagnosed with Type IVB OI. Genetic diagnosis in 2018 resulted in no identifiable type, but identified a previously uncataloged pathogenic variant in the gene which encodes proα2(I) chains of type I procollagen, COL1A2, at exon 19, c.974G>A.
The Brittle Bone Society was established in 1968 in Dundee by Margaret Grant, who has OI. When she was young, Grant was aware that there was virtually no support for people with OI and that many medical professionals knew little or nothing about the condition.