Skeletal Radiology

, Volume 32, Issue 12, pp 708–718

Van Buchem disease: lifetime evolution of radioclinical features

  • Filip M. Vanhoenacker
  • Wendy Balemans
  • Gregorius J. Tan
  • Frederik G. Dikkers
  • Arthur M. De Schepper
  • Danny G. P. Mathysen
  • Anja Bernaerts
  • Wim Van Hul
Article

DOI: 10.1007/s00256-003-0675-4

Cite this article as:
Vanhoenacker, F.M., Balemans, W., Tan, G.J. et al. Skeletal Radiol (2003) 32: 708. doi:10.1007/s00256-003-0675-4

Abstract

Objective

The purpose of this study was to evaluate the lifetime evolution of the radioclinical features in a large family with van Buchem disease.

Design and patients

The study population included 13 patients, ranging between 6 and 69 years. The evolution of the clinical features has been assessed by retrospective analysis of the clinical records of the patients. The age-related evolution of the cortical hyperostosis and defective modeling at the tubular bones was evaluated by morphometric analysis of hand films in 9 patients, compared with 9 control individuals. Progression of sclerosis of the craniofacial bones was evaluated by analysis of the skull radiographs of eleven van Buchem patients, taken at different age.

Results and conclusions

Radioclinical features, including sclerosis of the cranial and tubular bones and cranial nerve deficit, become more prominent in older patients. Defective modeling of tubular bones, cortical thickness and medullary width progress with age. Radioclinical abnormalities of van Buchem patients become more prominent in older patients, which suggests that the van Buchem gene is very actively involved in bone metabolism throughout life. Morphometric analysis of the plain films supports the hypothesis that the physiological function of the van Buchem gene is to inhibit bone formation and possibly to regulate bone remodeling.

Keywords

Hyperostosis Van Buchem disease Bone dysplasia 

Copyright information

© ISS 2003

Authors and Affiliations

  • Filip M. Vanhoenacker
    • 1
  • Wendy Balemans
    • 2
  • Gregorius J. Tan
    • 3
  • Frederik G. Dikkers
    • 4
  • Arthur M. De Schepper
    • 1
  • Danny G. P. Mathysen
    • 5
  • Anja Bernaerts
    • 1
  • Wim Van Hul
    • 2
  1. 1.Department of RadiologyUniversity Hospital AntwerpEdegemBelgium
  2. 2.Department of Medical GeneticsUniversity of AntwerpAntwerpBelgium
  3. 3.Department of RadiologyDr. Janssen ZiekenhuisEmmeloordThe Netherlands
  4. 4.Department of OtorhinolaryngologyUniversity Hospital GroningenGroningenThe Netherlands
  5. 5.Department of OphthalmologyUniversity Hospital AntwerpEdegemBelgium

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