Van Buchem disease: lifetime evolution of radioclinical features

Skeletal Radiol. 2003 Dec;32(12):708-18. doi: 10.1007/s00256-003-0675-4. Epub 2003 Oct 1.


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.

Publication types

  • Comparative Study
  • Evaluation Study

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Aged
  • Bone Diseases, Developmental / diagnostic imaging
  • Bone Diseases, Developmental / genetics*
  • Bone Diseases, Developmental / pathology*
  • Camurati-Engelmann Syndrome / diagnostic imaging
  • Camurati-Engelmann Syndrome / genetics
  • Camurati-Engelmann Syndrome / pathology
  • Child
  • Craniofacial Abnormalities / diagnostic imaging
  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / pathology
  • Diaphyses
  • Facial Nerve Diseases / diagnostic imaging
  • Facial Nerve Diseases / genetics
  • Facial Nerve Diseases / pathology
  • Family Health
  • Female
  • Genetic Predisposition to Disease / genetics
  • Hearing Loss, Conductive / diagnostic imaging
  • Hearing Loss, Conductive / genetics
  • Hearing Loss, Conductive / pathology
  • Hearing Loss, Sensorineural / diagnostic imaging
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / pathology
  • Humans
  • Hyperostosis, Cortical, Congenital / diagnostic imaging
  • Hyperostosis, Cortical, Congenital / genetics
  • Hyperostosis, Cortical, Congenital / pathology
  • Male
  • Metacarpus / diagnostic imaging
  • Metacarpus / pathology
  • Middle Aged
  • Netherlands
  • Observer Variation
  • Pedigree
  • Retrospective Studies
  • Sclerosis
  • Skull / diagnostic imaging
  • Skull / pathology
  • Statistics as Topic
  • Tomography, X-Ray Computed