3D shape and molecular analyses of facial dysmorphology associated with cognitive impairment

The face and brain normally develop in a coordinated fashion under the influence of many genes. Hence, genetic anomalies disrupting early development can result both in cognitive impairment and facial dysmorphology, the latter often being an important clue to a preliminary diagnosis. Recent advances in computational models of facial dysmorphology can assist this early recognition of characteristic face shape and inform the strategy for molecular analysis and confirmation of a clinical diagnosis. Studies combining morphological, cognitive and molecular analyses of atypical patients with a genetic condition can help identify the role of individual genes in different facets of the associated clinical pathologies. The power of this multi-disciplinary approach is demonstrated by case studies in Williams syndrome. Copyright © 2010 S. Karger AG, Basel.