osteogenesis imperfecta


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osteogenesis imperfecta

[¦äs·tē·ō′jen·ə·səs ‚im·pər′fek·tə]
(medicine)
A disease inherited as an autosomal dominant and characterized by hypoplasia of osteoid tissue and collagen, resulting in bone fractures.
References in periodicals archive ?
Pero unicamente fue hasta 1939 cuando Roberts y Schour la denominaron "Dentinogenesis imperfecta" o "Dentina Opalescente Hereditaria" al describir que se trataba de una alteracion dental similar a la que se observa en los pacientes con Osteogenesis Imperfecta (9,10).
Collagen-derived markers of bone metabolism in osteogenesis imperfecta. Acta Paediatr 1998;87:1131-7.
Some disorders cause people to be unusually tall (Marfan syndrome) or short (chondrodysplasias, osteogenesis imperfecta), or to have head and facial structure malformations (Apert syndrome, Pfeiffer syndrome).
The work, reported in the March NATURE MEDICINE, raises the prospect of a treatment that attacks osteogenesis imperfecta at its core.
In some circumstances, the failure to properly diagnose may allow a treatable disorder, eg, hemophilia or osteogenesis imperfecta, to go unrecognized.
Saqdi passed away in his sleep due to complications from osteogenesis imperfecta. Even though pediatric wheelchairs cannot prevent every complication, they do provide comfort, support, mobility and hope to children who otherwise would be left laying flat and forgotten as the world passes them by.
"This problem is even more serious in children with osteogenesis imperfecta, or brittle bone disease, and in elderly adults with osteoporosis, because their fragile bones can easily and repeatedly break, and bone graft surgical treatment is often not successful or feasible," Spagnoli said.
A 28-year-old osteogenesis imperfecta sufferer has been helped into a new role at the BBC by a Warwickshire employment charity.
The differential diagnosis includes osteogenesis imperfecta, metabolic disorders and accidental injury.
He'll always be my little boy.'' Amanda suffers from osteogenesis imperfecta - commonly known as brittle bone disorder.