𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

✍ Scribed by 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.

Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
36 KB
Volume
57
Category
Article
ISSN
0040-3709

No coin nor oath required. For personal study only.

✦ Synopsis

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.

📜 SIMILAR VOLUMES

Case for mandatory fortification of food
Case for mandatory fortification of food with folate in Australia, for the prevention of neural tube defects
✍ Carol Bower; Fiona J. Stanley 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 57 KB 👁 1 views

## Abstract ## BACKGROUND Since the publication of randomized controlled trials demonstrating the prevention of neural tube defects (NTDs) with periconceptional folate, several Australian states have promoted an increase in periconceptional use of folic acid supplements. Since 1996, voluntary fort

Does periconceptional multivitamin use r
Does periconceptional multivitamin use reduce the risk of neural tube defects associated with other birth defects? Data from two population-based case-control studies
✍ Khoury, Muin J. ;Shaw, Gary M. ;Moore, Cynthia A. ;Lammer, Edward J. ;Mulinare, 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 49 KB 👁 2 views

The role of periconceptional folic acid in the prevention of neural tube defects (NTDs) is well established. However, it is not clear whether a protective effect exists for the subset of nonsyndromic NTD with other "unrelated" major structural birth defects (NTD-multiples). This question is importan

Abnormal folate metabolism and genetic p
Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect
✍ Al-Gazali, L.I. ;Padmanabhan, R. ;Melnyk, S. ;Yi, P. ;Pogribny, I.P. ;Pogribna, 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 86 KB 👁 2 views

The association of neural tube defects (NTDs) with Down syndrome (trisomy 21) and altered folate metabolism in both mother and affected offspring provide a unique opportunity for insight into the etiologic role of folate deficiency in these congenital anomalies. We describe here the case of a male c

Linkage disequilibrium of MTHFR genotype
Linkage disequilibrium of MTHFR genotypes 677C/T-1298A/C in the German population and association studies in probands with neural tube defects(NTD)
✍ Stegmann, Karolin; Ziegler, Andreas; Ngo, Ernestine T. K. M.; Kohlschmidt, Nicol 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 1 views

A number of studies have demonstrated that the common polymorphism 677C→T in the gene encoding 5, 10-methylenetetrahydrofolate reductase (MTHFR) leads to a thermolabile variant with decreased enzyme activity and to mildly elevated plasma homocysteine. 677TT homozygosity was shown to be more frequent

Myelomeningocele and Waardenburg syndrom
Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: Possible digenic inheritance of a neural tube defect
✍ Nye, Jeffrey S.; Balkin, Nancy; Lucas, Heather; Knepper, Paul A.; McLone, David 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 1 views

From a spina bifida clinic we have identified two patients with a syndrome of myelomeningocele and Waardenburg syndrome type 3 (WS3). The patients each possess a single, de novo, interstitial deletion of chromosome 2 (2q35-36.2), including the PAX3 gene. Deletion of PAX3 was confirmed by fluorescenc