Autosomal dominant transmission of congenital erythroid hypoplastic anemia with radial abnormalities.
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.
Hurst
J A
JA
Department of Clinical Genetics, Hospital for Sick Children, London, England.
Baraitser
M
M
Wonke
B
B
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*