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Although there is no cure, [10] most cases of OI do not have a major effect on life expectancy, [1]: 461 [15] death during childhood from it is rare, [10] and many adults with OI can achieve a significant degree of autonomy despite disability. [18]
Osteogenesis imperfecta, congenital dwarfisms, skeletal dysplasias: Treatment: Asfotase alfa (Strensiq), an enzyme replacement therapy: Prognosis: Severe perinatal forms are lethal without treatment; adult forms may only show moderate symptoms: Frequency: Rare (1 in 100,000); [3] more common in some populations [4]
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 ...
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.
Craniocervical instability is more common in people with a connective tissue disease, including Ehlers-Danlos syndromes, [1] osteogenesis imperfecta, and rheumatoid arthritis. [2] It is frequently co-morbid with atlanto-axial joint instability, Chiari malformation , [ 3 ] or tethered spinal cord syndrome .
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 ...
This requires familiarity with average life expectancies, but not... More Than Half of U.S. Adults Are ‘Jeopardizing’ Retirement Preparedness With Poor Life Expectancy Knowledge, Report Says ...
Osteopetrosis, literally ' stone bone ', also known as marble bone disease or Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften.