OSTEOGENESIS IMPERFECTA

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Issue: 
8
Year: 
2017

Professor L. Farkhutdinova, MD Bashkir State Medical University, Ufa

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



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References: 
  1. Rukovodstvo po detskoj endokrinologii. Pod red. Ch. Bruka, R. Braun. Per. s angl. pod red. V.A. Peterkovoj / M.: GEOTAR-Media, 2009; 352 s.
  2. Endokrinologija. Natsional'noe rukovodstvo. Pod red. I.I. Dedova, G.A. Mel'nichenko / M.: GEOTAR-Media, 2016; 1112 s.
  3. Renaud A., Aucourt J., Weill J. et al. Radiographic features of osteogenesis imperfect // Insights Imaging. – 2013; 4 (4): 417–29.
  4. 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.
  5. Forlino A., Cabral W., Barnes A. et al. New perspectives on osteogenesis imperfect // Nat. Rev. Endocrinol. – 2011; 7: 540–57.