title: 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.
authors.affiliation: ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.
authors.forename: M L
authors.initials: ML
authors.lastname: Martínez-Frías
authors.forename: A
authors.initials: A
authors.lastname: Sanchís
authors.forename: P
authors.initials: P
authors.lastname: Aparicio
authors.forename: M
authors.initials: M
authors.lastname: Blanco
authors.forename: M J
authors.initials: MJ
authors.lastname: García
authors.forename: J
authors.initials: J
authors.lastname: Gómez-Ullate
authors.forename: V
authors.initials: V
authors.lastname: Félix
authors.forename: H
authors.initials: H
authors.lastname: Huertas
authors.forename: N
authors.initials: N
authors.lastname: Jiménez
authors.forename: J A
authors.initials: JA
authors.lastname: López
authors.forename: J J
authors.initials: JJ
authors.lastname: Marco
authors.forename: M
authors.initials: M
authors.lastname: Martín
authors.forename: G
authors.initials: G
authors.lastname: Palacios
authors.forename: D
authors.initials: D
authors.lastname: Romero
authors.forename: M S
authors.initials: MS
authors.lastname: Vázquez
mesh_terms: D001724:Birth Weight; D016022:Case-Control Studies; D005260:Female; D005313:Fetal Death; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009436:Neural Tube Defects / Q000209:etiology; D013030:Spain