Van Buchem Disease, Sclerosteosis or Something Else?

  • Martina Špero


Due to dull headaches and enlarged hands, feet and mandible, endocrinologist referred a 39-year-old female patient to MRI of the brain.


  1. 1.
    Fayez A et al (2015) A novel loss-of-sclerostin function mutation in a first Egyptian family with sclerosteosis. Biomed Res Int 2015:517815, 8 pages. CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Bhadada SK et al (2013) Novel SOST gene mutation in a sclerosteosis patient and her parents. Bone 52(2):707–710CrossRefPubMedGoogle Scholar
  3. 3.
    Van Hul W et al (1998) Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. Am J Hum Genet 62:391–399CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Yavropoulou MP et al (2014) The sclerostin story: from human genetics to the development of novel anabolic treatment for osteoporosis. Hormones 13(4):476–487Google Scholar
  5. 5.
    Lewiecki EM (2014) Role of sclerostin in bone and cartilage and its potential as therapeutic target in bone disease. Ther Adv Musculoskelet Dis 6(2):48–57CrossRefPubMedPubMedCentralGoogle Scholar
  6. 6.
    Wengenroth M et al (2009) Case 150: Van Buchem disease (hyperostosis corticalis generalisata). Radiology 253:272–276CrossRefPubMedGoogle Scholar

Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Martina Špero
    • 1
  1. 1.Department of Diagnostic and InterventioClinical Hospital DubravaZagrebCroatia

Personalised recommendations