Shapira Y, Cohen T
J Med Genet. 1973 Sep;10(3):266-9. doi: 10.1136/jmg.10.3.266.
Two sisters are described. They are offspring of Arabic parents who are both first and second cousins, through both sets of grandparents; additionally the father's parents are first cousins. The diagnosis of agenesis of the corpus callosum in the propositae was made by the characteristic picture on the pneumoencephalogram. The clinical symptoms in the two sisters varied considerably. The older sister had shown delayed psychomotor development in infancy, mild mental retardation, and developed seizures at 7 years of age of both the grand mal and akinetic types. Her physical and neurological examination did not show any abnormalities. The EEG was severely abnormal with slow wave activity over the posterior parts of the brain and focal spiking. The younger sister presented at 6 months of age with failure to thrive, generalized hypotonia, but without seizures. Her EEG was within normal limits. This anomaly was probably transmitted by an autosomal recessive gene. The clinical and genetic aspects of this syndrome are discussed.
本文描述了一对姐妹。她们的父母是阿拉伯人，双方祖父母均为表亲（既是第一代也是第二代堂亲）；此外，父亲的父母也是第一代堂亲。通过气脑造影的特征性影像，对先证者作出了胼胝体发育不全的诊断。这两姐妹的临床症状差异很大。姐姐在婴儿期出现精神运动发育迟缓、轻度智力低下，7岁时出现大发作和运动不能发作类型的癫痫。她的体格检查和神经检查未发现任何异常。脑电图严重异常，大脑后部有慢波活动和局灶性尖峰。妹妹6个月大时出现发育不良、全身肌张力减退，但无癫痫发作。她的脑电图在正常范围内。这种异常可能是由常染色体隐性基因传递的。本文讨论了该综合征的临床和遗传方面。
