OSTEOGENESIS IMPERFECTA
Issue:
8
Year:
2017
The paper summarizes an update on the etiology and pathogenesis, clinical symptoms, diagnosis, and treatment of one of the orphan diseases – osteogenesis imperfecta.
Keywords:
pediatrics
traumatology and orthopedics
genetics
osteogenesis imperfecta
osteoporosis
dwarfism
References:
- Rukovodstvo po detskoj endokrinologii. Pod red. Ch. Bruka, R. Braun. Per. s angl. pod red. V.A. Peterkovoj / M.: GEOTAR-Media, 2009; 352 s.
- Endokrinologija. Natsional'noe rukovodstvo. Pod red. I.I. Dedova, G.A. Mel'nichenko / M.: GEOTAR-Media, 2016; 1112 s.
- Renaud A., Aucourt J., Weill J. et al. Radiographic features of osteogenesis imperfect // Insights Imaging. – 2013; 4 (4): 417–29.
- Van Dijk F., Byers P., Dalgleish R. et al. EMQN best practice guidelines for the laboratory diagnosis of Osteogenesis Imperfecta // Eur. J. Hum. Genet. – 2012; 20: 11–9.
- Forlino A., Cabral W., Barnes A. et al. New perspectives on osteogenesis imperfect // Nat. Rev. Endocrinol. – 2011; 7: 540–57.