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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 ).
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.
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]
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]
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.
In classic non-deforming osteogenesis imperfecta with blue sclerae or common variable osteogenesis imperfecta with normal sclerae, nearly 60% of cases are de novo. COL1A1/2-related osteogenesis imperfecta is identified by repeated fractures with trivial trauma, defective dentinogenesis imperfecta (DI), and hearing loss.
This series came from a determination to understand why, and to explore how their way back from war can be smoothed. Moral injury is a relatively new concept that seems to describe what many feel: a sense that their fundamental understanding of right and wrong has been violated, and the grief, numbness or guilt that often ensues.
Dr Turner arranges for the child to be taken into care, but later realises that the baby actually has osteogenesis imperfecta, a rare bone disease. The doctor's guilt over the unnecessary suffering he has put the parents through, combined with overwork, drives him to illness.