Abstract
Craniofacial anomalies are among the most common of birth defects. The pathogenesis of craniofacial anomalies frequently involves defects in the migration, proliferation, and fate of neural crest cells destined for the craniofacial skeleton. Genetic mutations causing deficient cranial neural crest migration and proliferation can result in Treacher Collins syndrome, Pierre Robin sequence, and cleft palate. Defects in post-migratory neural crest cells can result in pre- or post-ossification defects in the developing craniofacial skeleton and craniosynostosis (premature fusion of cranial bones/cranial sutures). The coronal suture is the most frequently fused suture in craniosynostosis syndromes. It exists as a biological boundary between the neural crest-derived frontal bone and paraxial mesoderm-derived parietal bone. The objective of this review is to frame our current understanding of neural crest cells in craniofacial development, craniofacial anomalies, and the pathogenesis of coronal craniosynostosis. We will also discuss novel approaches for advancing our knowledge and developing prevention and/or treatment strategies for craniofacial tissue regeneration and craniosynostosis.
Highlights
Craniofacial anomalies are among the most common of all birth defects
The pathogenesis of developmental craniofacial abnormalities commonly involves defects in the migration, proliferation, and fate of cranial neural crest cells and their derivatives. These neural crest developmental abnormalities lead to a variety of developmental defect syndromes, overall referred to as neurocristopathies, including those that are found in cleft palate [3], Treacher Collins syndrome [4], Pierre Robin sequence [5], and craniosynostosis [6]
Understanding that, in normal development, the neural crest-derived frontal bone has superior osteogenic potential that can promote the osteogenic differentiation of mesoderm-derived parietal bone cells [122,151], it seems logical to hypothesize that a more osteogenic frontal bone could exacerbate the osteogenesis of Fgfr2S252W/+ mutant mesoderm derived tissue to cause the Apert craniofacial phenotype, as is seen in the mesoderm specific mutant mouse
Summary
Craniofacial anomalies are among the most common of all birth defects. Like many congenital defects, most craniofacial anomalies occur due to a combination of genetic and environmental factors, the latter including maternal exposure to toxins (including tobacco and alcohol) and certain medications [1,2]. Defects areare involved in EMT required for neural crest delamination and migration to degrade cadherins within and extracellular can affect craniofacial development. (c) Prior to neural tube closure in mouse, epithelial-mesenchymal transition (EMT) triggers neural crest cells to delaminate from the neural tube and migrate throughout the embryo. The TGF-beta superfamily regulates neural crest differentiation into a variety of craniofacial structures, including osteoprogenitor cells of the frontal bone rudiment and the palatal mesenchyme [40,41,42,43,44]. Non-canonical Wnt signaling is required for neural crest cells to gain migratory potential in Xenopus, chick, and zebrafish [47,48,49,50], but it is not required in mouse neural crest cells [51]. We acknowledge that non-mammalian model organisms have significantly contributed to our knowledge of the neural crest; the remainder of this review will focus on mammalian neural crest and craniofacial development
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Free) 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
