伊韦马克综合征在同胞中伴有脾发育不全和无脾的家族性发生情况。
Familial occurrence of Ivemark syndrome with splenic hypoplasia and asplenia in sibs.
作者信息
Simpson J, Zellweger H
出版信息
J Med Genet. 1973 Sep;10(3):303-4. doi: 10.1136/jmg.10.3.303.
Abstract
Two sibs with Ivemark syndrome are described. This is the fourth observation of familial Ivemark syndrome, while over 200 cases reported in the literature have been sporadic. One of the affected sibs reported here had total absence of the spleen, while a hypoplastic spleen was found in the other sib. The occurrence of splenic aplasia and splenic hypoplasia in the same family would be in support of the unitary concept of Ivemark syndrome. Contrary to previous concepts, Ivemark syndrome with splenic hypoplasia and Ivemark syndrome with splenic aplasia represent variants of one and the same disease entity.
摘要
本文描述了两名患有伊韦马克综合征的同胞。这是家族性伊韦马克综合征的第四例观察报告，而文献中报道的200多例病例均为散发性。此处报告的一名患病同胞脾脏完全缺失，而另一名同胞则发现脾脏发育不全。同一家族中出现脾发育不全和脾发育不良支持了伊韦马克综合征的单一概念。与先前的概念相反，伴有脾发育不良的伊韦马克综合征和伴有脾发育不全的伊韦马克综合征是同一疾病实体的不同变体。
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