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Volume 2017, Article ID 5364827, 29 pages
Review Article

Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans

1Department of Parasitology, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia
2Laboratory for Fetal and Regenerative Biology, Colorado Fetal Care Center, Division of Pediatric Surgery, Children’s Hospital Colorado, University of Colorado, Anschutz Medical Campus, 12700 E 17th Ave, Aurora, CO 80045, USA
3Training and Technical Division, Islamic Hospital, Abdali, Amman 2414, Jordan
4Department of Biomedical Science, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia

Correspondence should be addressed to Noraishah M. Abdul-Aziz; ym.ude.cmmu@ahsion

Received 20 June 2016; Revised 14 November 2016; Accepted 1 December 2016; Published 13 February 2017

Academic Editor: Heinz Hofler

Copyright © 2017 Siti W. Mohd-Zin et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is the most common central nervous system malformation compatible with life and the second leading cause of birth defects after congenital heart defects. In this review paper, we define spina bifida and discuss the phenotypes seen in humans as described by both surgeons and embryologists in order to compare and ultimately contrast it to the leading animal model, the mouse. Our understanding of spina bifida is currently limited to the observations we make in mouse models, which reflect complete or targeted knockouts of genes, which perturb the whole gene(s) without taking into account the issue of haploinsufficiency, which is most prominent in the human spina bifida condition. We thus conclude that the need to study spina bifida in all its forms, both aperta and occulta, is more indicative of the spina bifida in surviving humans and that the measure of deterioration arising from caudal neural tube defects, more commonly known as spina bifida, must be determined by the level of the lesion both in mouse and in man.