D'Avanzo M, Pistoia V, Santinelli R, Tolone C, Toraldo R, Corcione A, Canino G, Iafusco F
Dipartimento di Pediatria, Facoltà di Medicina e Chirurgia, II Università degli Studi di Napoli, Italy.
Pediatr Hematol Oncol. 1994 Mar-Apr;11(2):189-95. doi: 10.3109/08880019409141655.
Here we report two children with Aase-Smith syndrome (triphalangeal thumbs and congenital red cell plasia). In vitro growth of erythroid colonies was normal in the first patient and totally absent in the other. In both patients, treatment with glucocorticoids induced remission of anemia. Our results suggest that the different growth patterns of erythroid colonies observed in the two patients could reflect the defect of erythroid differentiation occurring at discrete maturational levels.
在此，我们报告两名患有阿塞-史密斯综合征（三指节拇指和先天性红细胞生成异常）的儿童。第一名患者的红系集落体外生长正常，而另一名患者则完全没有。在两名患者中，糖皮质激素治疗均诱导贫血缓解。我们的结果表明，在两名患者中观察到的红系集落不同生长模式可能反映了在不同成熟水平发生的红系分化缺陷。
