Author(s): Chen, CP (Chen, Chih-Ping)
Title: SYNDROMES, DISORDERS AND MATERNAL RISK FACTORS ASSOCIATED WITH NEURAL TUBE DEFECTS (VII)
Source: TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 47 (3): 276-282 SEP 2008
Language: English Document Type: Review
Author Keywords: congenital malformations; disorders; maternal risk factors; neural tube defects; syndromes
KeyWords Plus: WEISSENBACHER-ZWEYMULLER-SYNDROME; MULTIPLE
CONGENITAL-ANOMALIES; FORAMINA-PARIETALIA-PERMAGNA; ANOPHTHALMIA- PLUS SYNDROME; OF-THE-LITERATURE; APERT-SYNDROME; HOMEOBOX GENE;
CRANIOTELENCEPHALIC DYSPLASIA; CRANIOMICROMELIC SYNDROME; OCCIPITAL ENCEPHALOCELE
Abstract: 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-Zweymuller 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. [Taiwan J Obstet Gynecol 2008-147(3):276-282]
Addresses: [Chen, Chih-Ping] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei, Taiwan;
[Chen, Chih-Ping] Mackay Mem Hosp, Dept Med Res, Taipei, Taiwan; [Chen, Chih-Ping] Asia Univ, Dept Biotechnol, Taichung, Taiwan; [Chen, Chih-Ping] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan; [Chen, Chih-Ping] Natl Yang Ming Univ, Inst Clin &
Community Hlth Nursing, Taipei 112, Taiwan
Reprint Address: Chen, CP, Mackay Mem Hosp, Dept Obstet & Gynecol, 92,Sect 2,Chung Shan N Rd, Taipei, Taiwan.
E-mail Address: cpc_mmh@yahoo.com
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Publisher: ELSEVIER SINGAPORE PTE LTD
Publisher Address: 3 KILLINEY ROAD 08-01, WINSLAND HOUSE 1, SINGAPORE, 239519, SINGAPORE
ISSN: 1028-4559
29-char Source Abbrev.: TAIWAN J OBSTET GYNECOL ISO Source Abbrev.: Taiwan. J. Obstet. Gynecol.
Source Item Page Count: 7
Subject Category: Obstetrics & Gynecology ISI Document Delivery No.: 371TL
