The Aase syndrome in a female infant.
This report describes a 2-month-old female with the Aase syndrome, bringing to 8 the total number of cases of this disorder. Features include triphalangeal thumbs and congenital hypoplastic anaemia. The occurrence of this disorder in sibs born to unaffected parents and in both sexes makes autosomal recessive inheritance the most likely aetiology.
D000741:Anemia, Aplastic / Q000151:congenital* / Q000188:drug therapy / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D011241:Prednisone / Q000627:therapeutic use; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*
D011241:Prednisone