Variability of osteogenesis imperfecta manifestations depending on gender: case report


Authors: Štěpán Jakub;  Kužma Martin;  Killinger Zdenko;  Payer Juraj
Authors‘ workplace: V. interná klinika LF UK a UNB, Nemocnica Ružinov, Bratislava
Published in: Clinical Osteology 2019; 24(1): 36-41
Category:

Overview

Osteogenesis imperfecta is a rare bone dysplasia with both autosomal dominant and autosomal recessive forms of inheritance. Our case presents two siblings of opposite sex with this disorder whose clinical picture and manifestation of the disease in spite of close relationship are different. The case also points out the results of five year treatment of these individuals with regards to differences between oral and intravenous use of bisphosphonates.

Keywords:

bisphosphonates – bone dysplasia – osteogenesis imperfecta


Sources
  1. Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A 2014; 164A(6): 1470–1481. Dostupné z DOI: <http://dx.doi.org/10.1002/ajmg.a.36545>. Erratum in Am J Med Genet A 2015; 167A(5): 11 78.
  2. Beary JF, Chines AA, Firth HV. Osteogenesis imperfecta: Clinical features and diagnosis. Dostupné z WWW: <https://www.uptodate.com/contents/osteogenesis-imperfecta-clinical-features-and-diagnosis>.
  3. Sillence DO, Rimoin DL. Classification of osteogenesis imperfect. Lancet 1978; 13 (1/8072): 1041–1042.
  4. Forlino A, Marini JC. Osteogenesis imperfecta. Lancet 2016; 387(10028): 1657–1671. Dostupné z DOI: <http://dx.doi.org/10.1016/S0140–6736(15)00728-X>.
  5. Pereira EM. Clinical perspectives on osteogenesis imperfecta versus non-accidental injury. Am J Med Genet C Semin Med Genet 2015; 169(4): 302–306. Dostupné z DOI: <http://dx.doi.org/10.1002/ajmg.c.31463>.
  6. Beary JF, Chines AA, Firth HV. Osteogenesis imperfecta: Management and prognosis. Dostupné z WWW: <https://www.uptodate.com/contents/osteogenesis-imperfecta-management-and-prognosis>.
  7. Dwan K, Phillipi CA, Steiner RD et al. Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev 2014; 7: CD005088. Dostupné z DOI: <http://dx.doi.org/10.1002/14651858.CD005088.pub3>.
  8. Vyskocil V, Pikner R, Kutílek S. Effect of alendronate therapy in children with osteogenesis imperfecta. Joint Bone Spine 2005; 72(5): 416–423. Dostupné z DOI: <https://doi.org/10.1016/j.jbspin.2004.09.005>.
  9. Yao X, Carleton SM, Kettle AD et al. Gender-dependence of bone structure and properties in adult osteogenesis imperfecta murine model. Ann Biomed Eng 2013; 41(6): 1139–1149. Dostupné z DOI: <https://doi.org/10.1007/s10439–013–0793–7>.
Labels
Clinical biochemistry Paediatric gynaecology Paediatric radiology Paediatric rheumatology Endocrinology Gynaecology and obstetrics Internal medicine Orthopaedics General practitioner for adults Radiodiagnostics Rehabilitation Rheumatology Traumatology
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