Abstract
There have been nine cases reported of children with triphalangeal thumbs and congenital RBC aplasia.1-8 The first such case was included in the review of 30 patients with congenital (erythroid) hypoplastic anemia in 1961 by Diamond et al.1 (This anemia had been described in 1938 in a brief report by Diamond and Blackfan.2 It was thereafter called the Diamond-Blackfan syndrome by some and congenital hypoplastic anemia by others.) The other cases of triphalangeal thumbs were reported individually, as if a new syndrome had been found, which recently was called the Aase syndrome.3 As a matter of fact, a review of 200 cases of congenital hypoplastic anemia in the literature has revealed 17 patients with associated thumb abnormalities.
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