3D shape and molecular analyses of facial dysmorphology associated with cognitive impairment
Hammond P., Tassabehji M.
©2010 S. Karger AG, Basel. The face and brain normally develop in acoordinated fash- ion 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 diag- nosis. Recent advances in computational models of facial dysmorphology can assist this early recognition of char- acteristic face shape and inform the strategy for molecu- lar analysis and confirmation of a clinical diagnosis. Stud- ies combining morphological, cognitive and molecular analyses of atypical patients with a genetic condition can help identify the role of individual genes in different fac- ets of the associated clinical pathologies. The power of this multi-disciplinary approach is demonstrated by case studies in Williams syndrome.