The following images show a fetus which turned out to be the Walker-Warburg syndrome. The mother was 33-year-old, G2P1. The first trimester examination at 13 weeks found the NT of 1.7 mm, nasal bone length of 2.8 mm. At 21 weeks, we found ventriculomegaly of the lateral cerebral ventricles and arachnoidal space, hypoplasia of the cerebellum, rhombencephalon synapsis, and agyria, hypoplastic corpus callosum. 患者,33岁,G2P1,孕13周早妊检查发现NT1.7mm,鼻骨长2.8mm。孕21周我们发现有侧脑室和蛛网膜下腔的扩张、小脑发育不良、后脑融合、无脑回畸形以及胼胝体发育不良。
The pregnancy was terminated and the diagnosis of the Walker-Warburg syndrome was confirmed. 最终诊断为Walker-Warburg综合征。
Figure 1-5:
Figure 6, 7: Postmorterm brain of the baby: 尸检的脑部照片