A new and rare form of Williams' syndrome

Acta Paediatr Jpn. 1993 Jun;35(3):247-51. doi: 10.1111/j.1442-200x.1993.tb03046.x.

Abstract

A 7 year old girl and her mother have typical phenotypic features of the Williams' (elfin facies) syndrome, and both have only mild mitral regurgitation with mitral valve prolapse (MVP). Mitral valve prolapse has been reported in only three cases but pure mitral insufficiency has not been reported alone. In this paper two cases of a new rare form of Williams' syndrome with MVP are presented and this rare disorder is discussed.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Face / abnormalities*
  • Female
  • Growth Disorders / diagnosis*
  • Humans
  • Hypercalcemia / diagnosis*
  • Intellectual Disability / diagnosis*
  • Learning Disabilities / diagnosis*
  • Mitral Valve Prolapse / diagnosis*
  • Phenotype
  • Syndrome