Facial Phenotype-Genotype Correlations In Angelman Syndrome

$10,500

Is there a characteristic or noteworthy facial appearance of individuals with AS?  Certainly it is known that those with AS have facial characteristics reflecting the normal traits of their parents but are there subtleties that might lead to an earlier or more accurate diagnosis of the syndrome especially in those for whom genetic testing has not confirmed any abnormality. This work used advanced three-dimensional surface morphology studies and powerful computer analysis to analyze surface modeling of the face in those with AS.