Váradi V, Csécsei K, Szeifert G T, Tóth Z, Papp Z
J Med Genet. 1987 Apr;24(4):207-9. doi: 10.1136/jmg.24.4.207.
The outcome of four successive pregnancies in a woman heterozygous for X linked hydrocephalus is described. The last two were scanned by ultrasound. In one, a good prognosis was given; the fetus was male but there was no evidence of dilated cerebral ventricles. In the other, hydrocephalus was diagnosed. The absence of aqueductal stenosis in this case supports the hypothesis that in this X linked condition communicating hydrocephalus is the primary defect and aqueductal stenosis is secondary.
本文描述了一位患有X连锁脑积水的杂合子女性连续四次怀孕的结果。最后两次怀孕进行了超声检查。其中一次检查给出了良好的预后诊断；胎儿为男性，但无脑室扩张的迹象。另一次检查则诊断出脑积水。该病例中不存在导水管狭窄，这支持了以下假说：在这种X连锁疾病中，交通性脑积水是主要缺陷，而导水管狭窄是继发性的。
