Advances in the molecular pathogenesis of craniofacial conditions

The impact that the understanding of fibroblast growth factor receptor (FGFR) biology and its relevance to the pathogenesis of the craniosynostoses has made cannot be underestimated. As the genetic and molecular pathology of other conditions become increasingly understood, there is much hope that robust and relevant animal models of these conditions may be generated. From these models-and in conjunction with laboratory studies in vitro-comes a real hope of improved therapeutic strategies. The future lies in increased cooperation between clinicians working in high-volume centers and basic scientists. This article decribes the results of a decade of research in which the molecular pathology of the craniosynostoses was unravelled. The understanding of the importance of FGFR mutations to the genetic etiology of craniosynostosis opened up novel studies in developmental biology in various tissues. Such studies describe the functional effects of FGFR mutations. Investigations of FGFR expression in human craniofacial development have related functional molecular studies to human craniosynostosis syndromes, which provides a link between the gene mutation and the affected child.