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

Abstract

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.

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“…Disruption of the secondary ossification center of a transverse or spinous thoracic vertebral process may result in aplasia or hypoplasia [17], while its radiographic appearance could be confused with a fracture. The spinous process may be absent, which is not to be confused with a bifid spinous process; spina bifida occulta may be evident at any level of the thoracic spinal column [9,18].…”

Incidental Findings Following Radiography of the Thoracic Spine and Chest in our Orthopaedic Practice

“…Disruption of the secondary ossification center of a transverse or spinous thoracic vertebral process may result in aplasia or hypoplasia [17], while its radiographic appearance could be confused with a fracture. The spinous process may be absent, which is not to be confused with a bifid spinous process; spina bifida occulta may be evident at any level of the thoracic spinal column [9,18].…”