Search results
Results from the WOW.Com Content Network
Osteogenesis imperfecta (IPA: / ˌ ɒ s t i oʊ ˈ dʒ ɛ n ə s ɪ s ˌ ɪ m p ɜːr ˈ f ɛ k t ə /; [4] OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that break easily.
She has osteogenesis imperfecta as does her father, Keith, who was also a Paralympian and won a bronze medal in 1984 in New York. [3] As well as the 2015 US Open in wheelchair singles, Whiley has won 9 Grand Slam doubles titles, and she & Japanese Yui Kamiji are the fourth team in women's wheelchair doubles (as well as the most recent players ...
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 usually involves autosomal dominant mutations to COL1A1 or COL1A2 which encode type 1 procollagen. [6] Bruck syndrome is linked to mutations in two genes, and therefore is divided in two types. Bruck syndrome type 1 is caused by a homozygous mutation in the FKBP10 gene. Type 2 is caused by a homozygous mutation in the ...
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 ...
COL1A1/2-related osteogenesis imperfecta is inherited in an autosomal dominant manner. The proportion of cases caused by a De novo COL1A1 or COL1A2 mutations are the cause of osteogenesis imperfecta in the vast majority of perinatally lethal osteogenesis imperfecta, and progressively deforming osteogenesis imperfecta.
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.