A new and rare form of Williams' syndrome


AKÇORAL A., ÖZAKSOY D., ORAN B., NARIN N., ÇEVIK N. T.

Pediatrics International, vol.35, no.3, pp.247-251, 1993 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 35 Issue: 3
  • Publication Date: 1993
  • Doi Number: 10.1111/j.1442-200x.1993.tb03046.x
  • Journal Name: Pediatrics International
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.247-251
  • Keywords: elfin facies, idiopathic hypercalcemia, mitral insufficiency, mitral valve prolapse, supravalvular aortic stenosis, Williams' syndrome
  • Dokuz Eylül University Affiliated: Yes

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. 1993 Japan Pediatric Society