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 ?
Difficulties in the therapy of children with osteogenesis imperfecta.
Costovertebral anomalies in osteogenesis imperfecta.
Osteogenesis imperfecta (OI) is an autosomal dominant or recessive connective tissue disorder caused by the deficiency of Type I collagen production associated with the deficiency of collagen Type I alpha 1 chain and collagen Type I alpha 2 chain.
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.
Osteogenesis imperfecta Es un trastorno genetico del Mutaciones en: COL1A1/COL1A2 (49) aumento de la fragilidad osea, masa osea baja y otras manifestaciones del tejido conectivo.
Their sister, Savine, 19, and mother, Cheryl, also have osteogenesis imperfecta, a genetic disorder that causes people to make too little collagen, part of the framework around which bones are formed.
Osteogenesis imperfecta is a genetic condition caused by mutations in genes implicated in collagen production.
Osteogenesis imperfecta is a genetic disorder that is characterized by bone fragility.
Phenotypic Classification of Dentinogenesis Imperfecta Type Clinical Manifestations Involved Gene(s) I Osteogenesis imperfecta with opalescent teeth COL1A1, COL1A2 II Opalescent dentin DSPP III Shell teeth, affects Brandywine isolate DSPP Table 5.
The Anti-resorptive activity leads to decrease in bone turnover, which is the basis for use of this drug in Osteogenesis imperfecta.
Byers, Glorieux, and Sponseller compile 58 chapters by an international group of orthopedists, geneticists, bone specialists, and other physicians and researchers, who describe osteogenesis imperfecta.