Clin Osteol 2019; 24(1): 36-41

Variability of osteogenesis imperfecta manifestations depending on gender: case reportCase reports

Štěpán Jakub; Kužma Martin; Killinger Zdenko; Payer Juraj
V. interná klinika LF UK a UNB, Nemocnica Ružinov, Bratislava

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

Published: June 11, 2019  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
Jakub Š, Kužma M, Killinger Z, Payer J. Variability of osteogenesis imperfecta manifestations depending on gender: case report. Clinical Osteology. 2019;24(1):36-41.
Share...
Download citation
  • BibTeX (.bib)
  • Bookends (.ris)
  • EasyBib (.ris)
  • EndNote (.enw)
  • EndNote 8 (.xml)
  • ISI WoS (.isi)
  • Medlars (.medlars)
  • Mendeley (.ris)
  • MODS (.xml)
  • Papers (.ris)
  • RefWorks (.txt)
  • RefManager (.ris)
  • RIS (.ris)
  • MS Word (.xml)
  • Zotero (.ris)
    • Open full article

    References

    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. Go to original source...
    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. Go to original source...
    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>. Go to original source...
    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>. Go to original source...
    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>. Go to original source...
    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>. Go to original source...
    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>. Go to original source...

    Return to the content


    Clinical Osteology

    Madam, Sir,
    please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
    Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

    I declare:

    1. that I have met the above instruction
    2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited

    No
    Yes

    If your statement is not true, please be aware
    that brings the risk of danger to their health or the health of others.