ASIA unversity:Item 310904400/16282
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    题名: SYNDROMES, DISORDERS AND MATERNAL RISK FACTORS ASSOCIATED WITH NEURAL TUBE DEFECTS (VII)
    作者: 陳持平;Chen, Chih-Ping
    贡献者: 生物科技學系
    关键词: congenital malformations;disorders;maternal risk factors;neural tube defects;syndromes
    日期: 2008-09
    上传时间: 2012-11-23 17:10:55 (UTC+8)
    摘要: 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-Zweymüller syndrome, parietal foramina (cranium bifidum), Apert syndrome, craniomicromelic syndrome, XX-agonadism 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.
    關聯: TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY
    显示于类别:[生物科技學系] 期刊論文

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