Akçoral A, Ozaksoy D, Oran B, Narin N, Cevik N T
Department of Pediatrics, Dokuz Eylül University School of Medicine, Izmir, Turkey.
Acta Paediatr Jpn. 1993 Jun;35(3):247-51. doi: 10.1111/j.1442-200x.1993.tb03046.x.
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.
一名7岁女孩及其母亲具有典型的威廉姆斯综合征（小精灵面容）的表型特征，且二者均仅有轻度二尖瓣反流合并二尖瓣脱垂（MVP）。二尖瓣脱垂仅在三例病例中被报道过，但单纯二尖瓣关闭不全尚未单独报道过。本文报告了两例伴有MVP的新型罕见威廉姆斯综合征病例，并对这种罕见疾病进行了讨论。
