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Keywords:

  • craniofacial abnormalities;
  • craniofacial biology;
  • signaling pathways;
  • neural crest cells;
  • retinoic acid;
  • Goldilocks phenomenon;
  • FGF3/FGF10;
  • ciliopathies;
  • craniosynostosis;
  • Treacher Collins syndrome;
  • Tcof1/Treacle;
  • ribosome biogenesis;
  • p53;
  • endothelin;
  • zebrafish;
  • Dlx;
  • Lrp4;
  • tooth development

Abstract

Approximately three quarters of children with birth defects have anomalies that affect the craniofacial structures. Defects in this area of the body result in lifelong disability, major challenges to families and society and often a serious effect on life expectancy. Surgery has been the primary intervention for these disorders, with frequently less than optimal outcomes and risk for additional morbidity and mortality. The challenge for clinicians caring for these children is to develop new methods for the treatment and prevention of these disorders. An understanding of the evolution of the head and the finely tuned temporospatial signaling pathways involved is critical to understanding the origins of the vertebrates as well as of human craniofacial malformations. In the future, these new approaches will be based upon our enhanced understanding of the developmental tool kit fashioned by evolution and the application of this knowledge toward the development of new diagnostic, pharmacologic, and genetic interventions for these disorders. © 2010 Wiley-Liss, Inc.