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open access eISSN 2093-3673

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Review Article

Anat Cell Biol 2022; 55(4): 399-405

Published online December 31, 2022


Copyright © Korean Association of ANATOMISTS.

Congenital malformations in the vertebral column: associations and possible embryologic origins

Anneli M. Du Plessis1,2 , Quenton Wessels2 , Albert Van Schoor1 , Natalie Keough1,3

1Department of Anatomy, Health Science Campus, University of Pretoria, South Africa, 2Department Anatomy, School of Medicine, University of Namibia, Windhoek, Namibia, 3Department of Anatomy and Cellular Biology, College of Medicine and Health Sciences, Khalifa University, Abu Dhabi, United Arab Emirates

Correspondence to:Anneli M. Du Plessis
Department of Anatomy, School of Medicine, University of Namibia, Windhoek 9000, Namibia
E-mail: apoolman@unam.na/ annelidupi@gmail.com

Received: March 18, 2022; Revised: June 1, 2022; Accepted: July 5, 2022

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.


Cases of associations between random spinal congenital defects have previously been reported, yet several questions remain unanswered. Firstly, why are associations between what seems to be random combinations of vertebral malformations observed? Secondly, is there a common event or pattern that connects the associated defects? Therefore, this study aimed to identify congenital defects in the vertebral column and also to determine whether any associations, if present, between vertebral malformations exist. This article consequently discusses the possible embryological disruptions that may lead to the formation of various defects in the vertebral column. A random skeletal sample (n=187) was selected from the Pretoria Bone Collection housed in the Department of Anatomy, University of Pretoria (Ethics 678/2018). The sample was evaluated to determine the frequencies of spinal congenital defects in each set of remains. Identifiable congenital malformations were observed in 48.1% (n=90/187) of the sample. The results demonstrated a high probability of association between the different defects observed in the vertebral column. Findings are of value as they provide a reasonable explanation to why seemingly random cases of associations have been reported by several authors. This study is clinically relevant as severe spinal defects have been shown to have high morbidity in patients and mortality in infants.

Keywords: Embryology, Physical anthropology, Vertebra, Congenital, Somites

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