Anat Cell Biol.  2022 Dec;55(4):399-405. 10.5115/acb.22.062.

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

• Du Plessis AM
• Wessels Q
• Schoor AV
• Keough N

• KMID: 2537458
• DOI: http://doi.org/10.5115/acb.22.062

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.

Keyword

Embryology; Physical anthropology; Vertebra; Congenital; Somites

Figure

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  Fig. 1 The sequence of normal ossification of a vertebrae. Step 1, the ossification of the spinous process; Step 2, closure of the posterior neuropore; Step 3, fusion of the vertebral body; Step 4, fusion of the pedicles to the vertebral body and Step 5, the final fused vertebra.

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  Fig. 2 An example of congenital spondylolysis in the fifth lumbar vertebra observed within the skeletal sample (arrows).

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  Fig. 3 An example of spina bifida in the sacrum observed within the skeletal sample (arrows).

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  Fig. 4 Illustration of various examples resulting from ossification disruption. (A) The normal layout of the somites relative to the neural tube and T/L junction. (B) A unilateral (possibly bilateral) cranial shift resulting in a defect in the caudal regions. (C) A bilateral (possibly unilateral) caudal shift which results in malformations in the cranial regions. (D) Overlapping developing somites resulting in transitional vertebrae (possible with both cranial and caudal border shifts). T/L, thoracolumbar; X, defect.

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  Fig. 5 Disruption of secondary ossification centres and consequent spinal defects that may form.

Reference

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