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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]
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 ).
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 .
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]
Wormian bones are a marker for some diseases and important in the primary diagnosis of brittle bone disease: osteogenesis imperfecta. [5] Wormian bones may also be seen in: [6] Pycnodysostosis; Osteogenesis imperfecta; Rickets "Kinky-hair" Menke's syndrome; Cleidocranial dysostosis; Hypothyroidism and hypophosphatasia; Otopalatodigital syndrome
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.
When Stephenson was born, doctors quickly recognized the signs of the genetic mutation osteogenesis imperfecta, commonly known as "brittle bone disease". Most of his bones had been broken during the delivery. He was placed in intensive care at Chicago Children's Hospital, and doctors warned his parents that he might die very soon. [1]
Guss was born in Detroit, Michigan, and moved to Goleta, California at roughly four months old when his father, an English professor, took a job at UC Santa Barbara. He graduated from San Marcos High School in 1985 with Toad bandmates Todd Nichols and Dean Dinning.