The Williams syndrome: objective definition and diagnosis

Clin Genet. 1984 May;25(5):422-8. doi: 10.1111/j.1399-0004.1984.tb02011.x.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Anthropometry*
  • Child
  • Child, Preschool
  • Heart Defects, Congenital / diagnosis*
  • Humans
  • Hypercalcemia / diagnosis
  • Infant
  • Intellectual Disability / diagnosis*
  • Phenotype
  • Psychomotor Performance
  • Syndrome
  • Terminology as Topic