Fibrochondrogenesis in male twins at 24 weeks gestation

Am J Med Genet. 1991 Jan;38(1):95-8. doi: 10.1002/ajmg.1320380121.

Abstract

Fibrochondrogenesis is a rare lethal chondrodysplasia. Only 5 cases have been reported. We report on a pair of affected twins diagnosed at 24 weeks of gestation. Occurrence in sibs and consanguinity in the parents in a previous report support autosomal recessive transmission.

Publication types

  • Case Reports

MeSH terms

  • Alkaline Phosphatase / blood
  • Calcium / blood
  • Cartilage / abnormalities
  • Cartilage / ultrastructure
  • Diagnosis, Differential
  • Exostoses, Multiple Hereditary / diagnosis
  • Exostoses, Multiple Hereditary / genetics*
  • Exostoses, Multiple Hereditary / pathology
  • Genes, Recessive*
  • Gestational Age
  • Humans
  • Infant, Newborn
  • Male
  • Twins, Monozygotic

Substances

  • Alkaline Phosphatase
  • Calcium