Vohra N, Ghidini A, Alvarez M, Lockwood C
Department of Obstetrics, Gynecology and Reproductive Sciences, Mount Sinai School of Medicine, New York, NY 10029.
Prenat Diagn. 1993 Jul;13(7):575-9. doi: 10.1002/pd.1970130707.
The prenatal sonographic findings in a case of Walker-Warburg syndrome are described. The patient was not at risk for this condition. Ultrasound examination at 34 weeks' gestation revealed hydrocephaly, Dandy-Walker anomaly, and striking ocular abnormalities. From a review of the literature it appears that while intracranial abnormalities can lead to the diagnosis in cases at risk for this syndrome, ocular abnormalities are rather characteristic for this syndrome and they should be searched for in every case of hydrocephaly or encephalocele.
本文描述了一例沃克 - 沃伯格综合征的产前超声检查结果。该患者并无患此疾病的风险因素。妊娠34周时的超声检查显示有脑积水、丹迪 - 沃克畸形以及明显的眼部异常。从文献回顾来看,虽然颅内异常可在有该综合征风险的病例中辅助诊断,但眼部异常是此综合征相当典型的特征,在每一例脑积水或脑膨出病例中都应仔细检查是否存在眼部异常。