Autosomal dominant transmission of congenital erythroid hypoplastic anemia with radial abnormalities.

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.

• Authors: J A Hurst, M Baraitser, B Wonke
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 40 Issue 4 Pg. 482-4 (Sep 15 1991) ISSN: 0148-7299 [Print] United States
• PMID: 1746615 (Publication Type: Case Reports, Journal Article)

Topics

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