Aase-Smith syndrome: report of a new case with unusual features

A new case of Aase-Smith syndrome has been reported with additional findings, including microcephaly, axial rotation of the kidneys, preaxial polydactyly and leukopenia. The patient had almost complete clinical remission with corticosteroid treatment. The findings in this case suggest that it is very difficult to differentiate Aase-Smith syndrome from Blackfan-Diamond and Fanconi's anemias as well as from those cases reported by Murphy and Lubin, and Jones and Thompson.