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

Autor: S, Yetgin, S, Balci, G, Irken, T, Coşkun, B, Say
Rok vydání: 1994
Předmět:
Zdroj: The Turkish journal of pediatrics. 36(3)
ISSN: 0041-4301
Popis: 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.
Databáze: OpenAIRE