Clinical and radiographic analysis of osteochondromas and growth disturbance in hereditary multiple exostoses

J Pediatr Orthop. 2000 Mar-Apr;20(2):246-50.

Abstract

Hereditary multiple exostoses (HME) is traditionally described as a skeletal dysplasia. However, the discovery that the EXT family of tumour suppressor genes are responsible for HME suggests that it is more appropriate to classify HME as a familial neoplastic trait. In a clinical and radiographic analysis of paired bone length and exostoses number and dimensions in a HME cohort, the local presence of osteochondromas was consistently associated with growth disturbance. In particular, an inverse correlation between osteochondroma size and relative bone length (p<0.01) was found. These data suggest that the growth retardation in HME may result from the local effects of enlarging osteochondromas rather than a skeletal dysplasia effect. This study provides the first clinical rationale for ablation of rapidly enlarging exostoses to reduce growth disturbance.

MeSH terms

  • Adolescent
  • Adult
  • Bone Neoplasms / diagnostic imaging*
  • Bone Neoplasms / genetics
  • Bone Neoplasms / pathology
  • Child
  • Child, Preschool
  • Cohort Studies
  • Exostoses, Multiple Hereditary / diagnosis*
  • Exostoses, Multiple Hereditary / genetics
  • Female
  • Genes, Tumor Suppressor / physiology
  • Growth Disorders / diagnostic imaging*
  • Growth Disorders / epidemiology
  • Growth Disorders / genetics
  • Humans
  • Incidence
  • Male
  • Middle Aged
  • Osteochondroma / diagnostic imaging*
  • Osteochondroma / genetics
  • Osteochondroma / pathology*
  • Prognosis
  • Radiography
  • Risk Assessment