Bilateral hereditary micro-epiphyseal dysplasia: further delineation of the phenotype with 40 years follow-up

Int Orthop. 2002;26(3):188-93. doi: 10.1007/s00264-002-0341-9. Epub 2002 Apr 16.

Abstract

Bilateral hereditary micro-epiphyseal dysplasia (BHMED) is a distinct skeletal dysplasia with specific clinical and radiological findings. It was first published in 1959. We have re-examined the original family for further delineation of the phenotype.

La dysplasie micro – épiphysaire héréditaire bilatérale (BHMED) est une dysplasie squelettique distincte avec des aspects clinique et radiologique spécifiques. La première publication date de 1959. Nous avons examiné de nouveau la famille originaire pour mieux définir le phénotype.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Humans
  • Male
  • Middle Aged
  • Osteochondrodysplasias / diagnostic imaging
  • Osteochondrodysplasias / genetics*
  • Pedigree
  • Phenotype*
  • Radiography
  • Time Factors