A female patient with "Aase syndrome".
A girl with congenital hypoplastic anemia and triphalangeal thumbs (Aase syndrome) is described. This is the second report of these features is a female patient, making autosomal recessive inheritance a probable explanation.
D000741:Anemia, Aplastic / Q000151:congenital* / Q000235:genetics; D002877:Chromosomes, Human; D005260:Female; D007839:Functional Laterality; D006801:Humans; D007223:Infant; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*