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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 ).
A triangular face, in the simplest sense, is a human face shape with a lower half that becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards. It is not necessarily caused by any disease, but is common in individuals with Osteogenesis Imperfecta. [1]
The genetics of Bruck syndrome differs from osteogenesis imperfecta. 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.
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]
The body-positive movement has encouraged people, especially women, to see beauty in all shapes and sizes, and it's reminded us that body ideals are culturally constructed and not based on science.
Bone is broken down by osteoclasts, and rebuilt by osteoblasts, both of which communicate through cytokine (TGF-β, IGF) signalling.Ossification (also called osteogenesis or bone mineralization) in bone remodeling is the process of laying down new bone material by cells named osteoblasts.
It affects women more than men due to the sharp fall in estrogen production that follows menopause. [196] Globally, it is estimated that 21.2% of women and 6.3% of men over the age of 50 have osteoporosis, corresponding to a total of around 500 million people worldwide. [197] About 15% of Caucasians in their 50s and 70% of those over 80 are ...