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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 ).
He coined the term 'osteoporosis.' [1] He also described a disorder known today as osteogenesis imperfecta type I, which is sometimes called "Lobstein's disease". This disease is an hereditary, generalized connective tissue disorder characterized by bone fragility and a blue-gray sclerae of the eyes.
Sillence created the standard four-type system of osteogenesis imperfecta in 1979. [7] 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.
David Sillence (born 1944), Australian clinical geneticist, pioneered training of Australian geneticists, research in bone dysplasias, classified osteogenesis imperfecta Norman Simmons (1915–2004), US DNA research pioneer, who donated pure DNA to Rosalind Franklin in the prelude to the double helix discovery
These include osteogenesis imperfecta, [63] Multicentric carpotarsal osteolysis syndrome, [69] Multicentric Osteolysis, Nodulosis, and Arthropathy, [70] Marfan syndrome, [63] hemochromatosis, [4] hypophosphatasia [71] (for which it is often misdiagnosed), [72] glycogen storage diseases, homocystinuria, [63] Ehlers–Danlos syndrome, [63 ...
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]
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]
It was first discovered in 1972 by Bianchine et al. when they described three families with osteogenesis imperfecta, pseudoglioma, retinoblastoma, and recurrence of bone fractures. [ 8 ] References