Description of the characteristics of cases with noncontiguous neural tube defects identified in a series of consecutive births

Abstract

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.