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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 ).
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
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.
Other conditions that can produce similar symptoms include mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, and Hajdu-Cheney syndrome. [5] Treatment includes supportive measures such as a device to protect the skull and dental care. [5] Surgery may be performed to fix certain bone abnormalities. [4] Life expectancy is ...
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]
Juvenile osteoporosis is osteoporosis in children and adolescents. Osteoporosis is rare in children and adolescents. When it occurs, it is usually secondary to some other condition, [1] e.g. osteogenesis imperfecta, rickets, eating disorders or arthritis. In some cases, there is no known cause and it is called idiopathic juvenile osteoporosis ...
Growth arrest lines, also known as Harris lines, are lines of increased bone density that represent the position of the growth plate at the time of insult to the organism and formed on long bones due to growth arrest.