title: 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.affiliation: Department of Clinical Genetics, Hospital for Sick Children, London, England.
authors.forename: J A
authors.initials: JA
authors.lastname: Hurst
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
authors.forename: B
authors.initials: B
authors.lastname: Wonke
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005199:Fanconi Anemia / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011884:Radius / Q000002:abnormalities*; D013933:Thumb / Q000002:abnormalities*