Martínez-Frías M L, Sanchís A, Aparicio P, Blanco M, García M J, Gómez-Ullate J, Félix V, Huertas H, Jiménez N, López J A, Marco J J, Martín M, Palacios G, Romero D, Vázquez M S
ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
Teratology. 1998 Jan;57(1):13-6. doi: 10.1002/(SICI)1096-9926(199801)57:1<13::AID-TERA3>3.0.CO;2-8.
Van Allen et al. [(1973) Am. J. Med. Genet. 47:723-743] provided evidence for multisite closure of the neural tube in humans. Reynolds et al. [(1995) Proceedings of the Greewood Genetic Center 14:70-71] and Seller [(1995) J. Med. Genet. 32:205-207] described 13 and seven cases of noncontiguous neural tube defects (NTDs) respectively and concluded that the presence of noncontiguous NTDs cannot be explained on the basis of the model of a single initiation site with bidirectional closure. Here we present a series of 14 consecutive infants with noncontiguous NTDs, describing their characteristics. These show that noncontiguous NTDs are clinically heterogeneous, may have differences in sex ratio, and could have causal heterogeneity. The different combinations of closure failure defects have shown proportions in our population that are different from those in the populations studied by Reynolds et al. and Seller.
范·艾伦等人[（1973年）《美国医学遗传学杂志》47:723 - 743]提供了人类神经管多部位闭合的证据。雷诺兹等人[（1995年）《格林伍德遗传中心学报》14:70 - 71]和塞勒[（1995年）《医学遗传学杂志》32:205 - 207]分别描述了13例和7例非连续性神经管缺陷（NTDs），并得出结论，非连续性NTDs的存在无法基于单一起始位点双向闭合的模型来解释。在此，我们报告了一系列连续的14例患有非连续性NTDs的婴儿，描述了他们的特征。这些表明非连续性NTDs在临床上具有异质性，可能在性别比例上存在差异，并且可能存在病因异质性。闭合失败缺陷的不同组合在我们的人群中所显示的比例与雷诺兹等人和塞勒所研究的人群不同。
