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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 ).
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.
Popcorn calcification or popcorn appearance is the radiological appearance of calcification with irregular rings and arcs, which resembles popcorns.The calcification patterns in chondroid lesions of the bone (such as enchondroma and chondrosarcoma), [1] pulmonary hamartomas, [2] degenerating fibroadenomas of the breast and calcified fibroids of the uterus have been described as 'popcorn ...
A pathologic fracture is a bone fracture caused by weakness of the bone structure that leads to decrease mechanical resistance to normal mechanical loads. [1] This process is most commonly due to osteoporosis, but may also be due to other pathologies such as cancer, infection (such as osteomyelitis), inherited bone disorders, or a bone cyst.
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 .
A bone fracture may be the result of high force impact or stress, or a minimal trauma injury as a result of certain medical conditions that weaken the bones, such as osteoporosis, osteopenia, bone cancer, or osteogenesis imperfecta, where the fracture is then properly termed a pathologic fracture. [3]
Osteogenesis Imperfecta (types 1–4): Mutations in COL1alpha 1 and/or COL1alpha2 are known to cause several different types of Osteogenesis Imperfecta with the severity of said diseases being related to the type and frequency of the mutations occurring. [9] For further information on COL1's effect in this disease, see Collagen, type 1, alpha 1.