A probable case of the homozygous condition of the aniridia gene

J Med Genet. 1980 Dec;17(6):478-80. doi: 10.1136/jmg.17.6.478.

Abstract

A non-consanguineous union between two people with congenital aniridia is described which resulted in the stillbirth of a female fetus with complete absence of eyes, nose, and adrenal glands.

Publication types

  • Case Reports

MeSH terms

  • Adrenal Glands / abnormalities
  • Adult
  • Eye Abnormalities
  • Female
  • Fetal Death / etiology
  • Genes, Dominant
  • Genes, Lethal
  • Genes, Recessive
  • Heterozygote
  • Homozygote
  • Humans
  • Infant, Newborn
  • Iris / abnormalities*
  • Male
  • Pedigree
  • Pregnancy
  • Skull / abnormalities