Variant of atelosteogenesis? Report of a 20-week fetus

Am J Med Genet. 1988 Apr;29(4):883-90. doi: 10.1002/ajmg.1320290420.

Abstract

We report on a 20-week fetus with manifestations similar, but not identical, to those of atelosteogenesis. The present fetus had rhizomelic micromelia with absence of ossification in the humerus, radius, ulna, and cervical and upper thoracic vertebral bodies; coronal clefts in the ossified thoracic vertebral bodies; and talipes equinovarus. The physes were relatively normal on histologic examination.

Publication types

  • Case Reports

MeSH terms

  • Dysostoses / genetics
  • Enchondromatosis / genetics*
  • Female
  • Fetal Diseases*
  • Gestational Age
  • Humans
  • Male
  • Osteochondrodysplasias / genetics*
  • Pregnancy