Three diagnostic signs in Williams syndrome

Am J Med Genet Suppl. 1990:6:100-1. doi: 10.1002/ajmg.1320370618.

Abstract

In a series of 48 patients with Williams syndrome examined from 1984 to 1988, 3 physical manifestations were noted which have not been emphasized in previous reports of this condition. Unusual sacral creases were found in 25/48 patients, a linear array of hemangiomas (nevus flammeus) on the back in 3/48, and limitation of supination in 5/48.

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Forearm / abnormalities
  • Hemangioma / complications
  • Hemangioma / congenital
  • Humans
  • Radius / abnormalities
  • Sacrum / abnormalities
  • Supination
  • Syndrome
  • Synostosis / complications
  • Ulna / abnormalities