Autosomal dominant transmission of congenital erythroid hypoplastic anemia with radial abnormalities

Am J Med Genet. 1991 Sep 15;40(4):482-4. doi: 10.1002/ajmg.1320400422.

Abstract

We describe a mother and son with congenital hypoplastic anemia. The mother has apparently normal thumbs and forearms but her son has bilateral radial hypoplasia. They provide a further example of dominant inheritance of Diamond-Blackfan anemia/Aase syndrome and suggest that thumb and radial abnormalities are a component of this syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Adult
  • Fanconi Anemia / genetics*
  • Female
  • Genes, Dominant / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Radius / abnormalities*
  • Thumb / abnormalities*