Washington University, St. Louis
Appearance alone is insufficient to diagnose velocardiofacial syndrome
Published in Healthcare Finance, Tax and Law Weekly, January 19th, 2005
According to a study from the United States, "Numerous facial characteristics are associated with velocardiofacial syndrome. Care providers may use these facial characteristics to identify patients who may benefit from fluorescence in situ hybridization genetic testing to determine the presence of the 22q11.2 deletion. The purpose of [our] study was to test the hypothesis that experienced care providers were able to correctly diagnose the 22q11.2 deletion on the basis of studying frontal facial photographs."
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