Chitayat D, Toi A, Babul R, Levin A, Michaud J, Summers A, Rutka J, Blaser S, Becker L E
Prenatal Diagnosis Program, Toronto Hospital-General Division, Ontario, Canada.
Am J Med Genet. 1995 May 8;56(4):351-8. doi: 10.1002/ajmg.1320560403.
We report on the prenatal ultrasonographic diagnosis of Walker-Warburg syndrome based on cerebral and ocular findings. The ultrasound study done at 37 weeks gestation documented hydrocephalus and retinal nonattachment consistent with this syndrome. The ability to detect retinal nonattachment prenatally may have implications for the prenatal diagnosis of other conditions which have early retinal nonattachment as one of their findings. However, it is uncertain how early in pregnancy this defect can be detected.
我们报告基于脑部和眼部检查结果对沃克-沃尔伯格综合征进行的产前超声诊断。在孕37周时进行的超声检查记录了与该综合征相符的脑积水和视网膜脱离。产前检测到视网膜脱离的能力可能对其他以早期视网膜脱离为表现之一的疾病的产前诊断有影响。然而,尚不确定在孕期多早可以检测到这种缺陷。