The evolution of the nosology of osteogenesis imperfecta
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Date
2021
Journal Title
Journal ISSN
Volume Title
Publisher
Wiley-Blackwell
Abstract
Osteogenesis imperfecta (OI) is a relatively common genetic skeletal disorder with an estimated frequency of 1 in 20 000 worldwide. The manifestations are diverse and although individually rare, the several different forms contribute to the production of a significant number of affected individuals with considerable morbidity and mortality. During the last decade, there have been extensive molecular investigations into the etiology of OI and these advances have direct relevance to the medical management of the disorder, and the purpose of this review is to document the history and evolution of the nosology of OI. The current nosology, based on molecular concepts, which are crucial in the identification of genotype‐phenotype correlations in persons with OI, is also outlined.
Description
Keywords
Genetic, Nosology, Osteogenesis imperfecta, Thin bones
Citation
Chetty, M. et al . (2021). The evolution of the nosology of osteogenesis imperfecta. Clinical Genetics 99(1), 42-52