Frontonasal dysplasia: Towards an understanding of molecular and developmental aetiology

Peter G. Farlie, Naomi L. Baker, Patrick Yap, Tiong Y. Tan

Research output: Contribution to journalReview ArticleResearchpeer-review

12 Citations (Scopus)

Abstract

The complex anatomy of the skull and face arises from the requirement to support multiple sensory and structural functions. During embryonic development, the diverse component elements of the neuro- and viscerocranium must be generated independently and subsequently united in a manner that sustains and promotes the growth of the brain and sensory organs, while achieving a level of structural integrity necessary for the individual to become a free-living organism. While each of these individual craniofacial components is essential, the cranial and facial midline lies at a structural nexus that unites these disparately derived elements, fusing them into a whole. Defects of the craniofacial midline can have a profound impact on both form and function, manifesting in a diverse array of phenotypes and clinical entities that can be broadly defined as frontonasal dysplasias (FNDs). Recent advances in the identification of the genetic basis of FNDs along with the analysis of developmental mechanisms impacted by these mutations have dramatically altered our understanding of this complex group of conditions.

Original languageEnglish
Pages (from-to)312-321
Number of pages10
JournalMolecular Syndromology
Volume7
Issue number6
DOIs
Publication statusPublished - 1 Nov 2016
Externally publishedYes

Keywords

  • Craniofacial midline
  • Frontonasal dysplasias
  • Malformations

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