Chen Chih-Ping
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2008 Sep;47(3):276-82. doi: 10.1016/S1028-4559(08)60124-2.
Neural tube defects (NTDs) may be associated with syndromes, disorders and maternal risk factors. This article provides a comprehensive review of the syndromes, disorders and maternal risk factors associated with NTDs, including DK phocomelia syndrome (von Voss-Cherstvoy syndrome), Siegel-Bartlet syndrome, fetal warfarin syndrome, craniotelencephalic dysplasia, Czeizel-Losonci syndrome, maternal cocaine abuse, Weissenbacher- Zweymller syndrome, parietal foramina (cranium bifidum), Apert syndrome, craniomicromelic syndrome, XXagonadism with multiple dysraphic lesions including omphalocele and NTDs, Fryns microphthalmia syndrome, Gershoni-Baruch syndrome, PHAVER syndrome, periconceptional vitamin B6 deficiency, and autosomal dominant Dandy-Walker malformation with occipital cephalocele. NTDs associated with these syndromes, disorders and maternal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different from those of nonsyndromic multifactorial NTDs. Perinatal diagnosis of NTDs should alert doctors to the syndromes, disorders and maternal risk factors associated with NTDs, and prompt thorough etiologic investigation and genetic counseling.
神经管缺陷（NTDs）可能与综合征、疾病及母体危险因素有关。本文全面综述了与NTDs相关的综合征、疾病及母体危险因素，包括DK短肢畸形综合征（冯·沃斯-切尔斯特沃伊综合征）、西格尔-巴特利特综合征、胎儿华法林综合征、颅头发育异常、切泽尔-洛松奇综合征、母体可卡因滥用、魏森巴赫-茨韦米勒综合征、顶骨孔（颅骨裂）、阿佩尔综合征、颅微肢综合征、伴有包括脐膨出和NTDs在内的多种神经管闭合不全病变的XX性腺发育不全、弗林斯小眼综合征、格肖尼-巴鲁克综合征、PHAVER综合征、受孕前维生素B6缺乏，以及伴有枕部脑膨出的常染色体显性丹迪-沃克畸形。与这些综合征、疾病及母体危险因素相关的NTDs是NTDs的一种罕见但重要的病因。与综合征、疾病及母体危险因素相关的NTDs中，母体叶酸摄入的复发风险及预防效果可能与非综合征性多因素NTDs不同。NTDs的围产期诊断应提醒医生注意与NTDs相关的综合征、疾病及母体危险因素，并促使进行彻底的病因调查和遗传咨询。
