Arterial dysgenesis and limb defects: Clinical and experimental examples

Neil Vargesson, David R. Hootnick

Research output: Contribution to journalArticlepeer-review

22 Citations (Scopus)
12 Downloads (Pure)


Limb malformations are amongst the most common and visible birth effects. Causes have been purported to include genetic aberrations as well as teratogens, such as thalidomide. Here we review the evidence for vascular disruption in the genesis of limb malformations through abnormal arterial transitioning and from events such as amniocentesis, uterine constriction, and through teratogen exposure. We use several clinical and experimental examples and highlight the need to understand more about the role the vascular system plays in the molecular mechanisms underpinning normal limb development.
Original languageEnglish
Pages (from-to)21-29
Number of pages9
JournalReproductive Toxicology
Early online date20 Oct 2016
Publication statusPublished - 1 Jun 2017

Bibliographical note

This article is dedicated to Dr David S. Packard Jr. With thanks to Dr John DeSesso, Dr Lewis B. Holmes, Dr Mark Levinsohn, Dr David S. Packard Jr, Prof Lewis Wolpert for discussions on vascular disruption, particularly arterial dysgenesis and limb defects. We apologise to the many authors whose work we were unable to cite due to space limitations.

This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.


  • vascular transition
  • thalidomide
  • Mifepristol
  • vascular disruption
  • human embryo
  • vertebrate embryo
  • clubfoot
  • vertical talus
  • PFFD (proximal femoral focal deficiency)
  • Holt-oram syndrome


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