Recessive lethal chondrodysplasia, "round femoral inferior epiphysis type"

Eur J Pediatr. 1988 May;147(4):408-11. doi: 10.1007/BF00496421.

Abstract

Four cases of a sublethal form of chondrodysplasia are reported. The micromelic dwarfism is severe and on X-ray pictures the most striking feature is the shape of the lower femoral epiphysis, which is relatively well developed and rounded. The mode of inheritance is presumably autosomal recessive.

Publication types

  • Case Reports

MeSH terms

  • Epiphyses / pathology*
  • Female
  • Femur / pathology*
  • Genes, Recessive
  • Humans
  • Infant, Newborn
  • Male
  • Osteochondrodysplasias / congenital
  • Osteochondrodysplasias / genetics*
  • Osteochondrodysplasias / pathology
  • Tibia / pathology