Skeletal growth patterns in hereditary multiple exostoses: a natural history

J Pediatr Orthop B. 2012 Mar;21(2):150-4. doi: 10.1097/BPB.0b013e32834dd21f.

Abstract

Hereditary multiple exostoses (HME) is a commonly inherited musculoskeletal condition and is associated with a diminished stature. We demonstrated that adults with HME were significantly shorter when compared with a control group (P<0.001); preadolescents, however, were significantly taller than predicted (P=0.01). This was reflected by their height centile; 58% of the adults were under the 25th centile, whereas 53% of the preadolescence group were above the 75th centile. Stature was more severely affected in patients with an EXT1 mutation (P=0.008). This study illustrates a novel age-related growth pattern associated with HME, which is also affected by genotype.

MeSH terms

  • Adolescent
  • Age Factors
  • Bone Development / physiology*
  • Bone and Bones / pathology*
  • Bone and Bones / physiopathology
  • Child
  • Child, Preschool
  • Cohort Studies
  • Comorbidity
  • Dwarfism / diagnosis*
  • Dwarfism / epidemiology
  • Dwarfism / genetics
  • Exostoses, Multiple Hereditary / diagnosis*
  • Exostoses, Multiple Hereditary / epidemiology
  • Exostoses, Multiple Hereditary / genetics
  • Female
  • Genotype
  • Humans
  • Male
  • United Kingdom / epidemiology
  • Young Adult