Yetgin S, Balci S, Irken G, Coşkun T, Say B
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
Turk J Pediatr. 1994 Jul-Sep;36(3):239-42.
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.
已报告了一例伴有其他症状的阿斯-史密斯综合征新病例，这些症状包括小头畸形、肾脏轴向旋转、轴前多指畸形和白细胞减少症。该患者经皮质类固醇治疗后几乎完全临床缓解。该病例的发现表明，很难将阿斯-史密斯综合征与布莱克范-戴蒙德贫血症、范科尼贫血症以及墨菲和卢宾、琼斯和汤普森所报告的病例区分开来。
