Shokeir M H
Birth Defects Orig Artic Ser. 1974;10(4):223-7.
Six families with a total of 15 individuals with hypoplastic left heart syndrome in nine separate sibships are presented. In all patients the disorder was inexorably progressive and ultimately fatal with death occurring, with one exception, within the first two weeks of life. The distribution of the patients in the patients in the reported families is suggestive of autosomal recessive inheritance. Consanguinity could be demonstrated in five of the nine reported sibships. The results of a survey of newborns, using truncate ascertainment of families through affected infants, were compatible with the above hypothesis.
本文介绍了六个家庭，共15名患有左心发育不全综合征的个体，分布在九个不同的同胞关系中。所有患者的病情都不可避免地逐渐发展，最终导致死亡，除了一例以外，均在出生后的头两周内死亡。报告家族中患者的分布情况提示为常染色体隐性遗传。在九个报告的同胞关系中有五个可以证明存在近亲结婚情况。通过患病婴儿对家庭进行截断式确定，对新生儿进行调查的结果与上述假设相符。
