A new and rare form of Williams' syndrome

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

Pediatrics International, cilt.35, sa.3, ss.247-251, 1993 (SCI-Expanded, Scopus) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 35 Sayı: 3
  • Basım Tarihi: 1993
  • Doi Numarası: 10.1111/j.1442-200x.1993.tb03046.x
  • Dergi Adı: Pediatrics International
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.247-251
  • Anahtar Kelimeler: elfin facies, idiopathic hypercalcemia, mitral insufficiency, mitral valve prolapse, supravalvular aortic stenosis, Williams' syndrome
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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