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The Genetics and Development of Scoliosis pp 31–61Cite as

Environmental Factors and Axial Skeletal Dysmorphogenesis

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Abstract

Clinical data show that the axial skeleton dysmorphogenesis is present in approximately 1 in 1000 live births. Most of these defects have no known etiology, caused by an as-yet uncharacterized interaction of the genome with environmental insults. Humans are exposed to thousands of natural and synthetic compounds that have uncharacterized impacts in human development. Developmentally, these defects have their origin in somitogenesis, the initial manifestation of the vertebral column’s metameric segmentation. Development of the axial skeleton and the surrounding tissues occurs in an interdependent and hierarchical manner over an extended period of time. This may make the axial skeleton disproportionately susceptible to environmental influence. This fact highlights the need for investigating the role of environmental factors, alone or in combination, in the production of this particular class of defects. Such study requires the convergence of at least two broad fields of study: developmental biology, to understand the details of normal development, and teratology, to understand the causes, mechanisms, and manifestation of congenital birth defects. In this review, we focus on environmental factors that cause congenital scoliosis and their potential mechanisms, including maternal conditions and exposures such as hyperthermia, diabetes, valproic and retinoic acid, alcohols, and arsenic to illustrate the many potential pathways environmental factors disrupt to cause congenital scoliosis.

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Authors and Affiliations

  1. Center for Cellular and Molecular Engineering, Department of Orthopaedic Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA

    Peter G. Alexander, Ricardo Londono, Thomas P. Lozito & Rocky S. Tuan

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  1. Peter G. Alexander
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  2. Ricardo Londono
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Correspondence to Rocky S. Tuan .

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Editors and Affiliations

  1. School of Life Sciences, Arizona State University, Tempe, Arizona, USA

    Kenro Kusumi

  2. Developmental and Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney, Australia

    Sally L. Dunwoodie

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Alexander, P.G., Londono, R., Lozito, T.P., Tuan, R.S. (2018). Environmental Factors and Axial Skeletal Dysmorphogenesis. In: Kusumi, K., Dunwoodie, S. (eds) The Genetics and Development of Scoliosis. Springer, Cham. https://doi.org/10.1007/978-3-319-90149-7_2

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