The Williams syndrome: objective definition and diagnosis.
Fifty-two patients referred for suspicion of the Williams syndrome have been evaluated and divided into those with and without the syndrome by numerical analysis. A diagnostic index using 50 characters separates patients into two groups with an expected accuracy of 99%. An index using 40 of the characteristics is expected to be applicable to young infants without a substantial decrease in accuracy.
D000293:Adolescent; D000886:Anthropometry; D002648:Child; D002675:Child, Preschool; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D006934:Hypercalcemia / Q000175:diagnosis; D007223:Infant; D008607:Intellectual Disability / Q000175:diagnosis*; D010641:Phenotype; D011597:Psychomotor Performance; D013577:Syndrome; D009626:Terminology as Topic