Studies in Craniofacial development and disease

Abstract

There have been great advances in the understanding of the disease processes that result in craniofacial anomalies in the last thirty years. However, clinical practice with the observation of existing treatments and their outcomes also reveals to the discerning that there remains a significant clinical need for yet further improvements in both. This body of work encompasses a range of both laboratory based and clinical research which have been undertaken to try to meet address some of these issues. The clinical research has enhanced the knowledge of the natural history of disease pathology in patients and the long-term impact of specific surgical interventions on growth development and outcomes, and is a vital part of audit of existing treatment protocols. The laboratory-based basic science has impacted on both a broadening of underlying understanding of craniofacial biology, with correlation of gene anomalies and resulting morphological and functional changes. It also has in some examples raised the possibility of translating these results to develop novel innovative treatments that could lead to improved clinical outcomes. Combined these two approaches to study have identified new findings and have increased the understanding of underlying mechanisms of craniofacial anomalies and raise the possibility of new treatments and enhanced clinical outcomes for affected individuals.