All issues > Volume 30(6); 1987

Case Report

J Korean Pediatr Soc. 1987;30(6):684-690. Published online June 30, 1987.

A Case of Williams Elfin Facies Syndrome.

Kyung Jin Shin¹, Heon Seob Song¹, Byung Sook Park¹, In Soo Choi¹, Chan Uhng Joo¹, Jung Ku Jo²

¹Department of Pediatrics, Chonbug National University Medical School, Chonju, Korea
²Department of Chest Surgery, Chonbug National University Medical School, Chonju, Korea

Abstract

Williams elfin facies syndrome is a disorder which has previously designated as the pecular facies, mental retardation and supravalvular aortic stenosis. Supravalvular aortic stenosis is the least form of left ventricular outflow obstruction, originating at superior margin of sinuses of Valsalva just above the level of the coronary arteries. We had experienced a case of Williams elfin facies syndrome who had characteristic face, mental retardation and supravalvular aortic stenosis. During cineangiography, cine frame obtained at end-systole showed more radiopaque coronary artery circulation than those at end-diastole. We postulate that the characteristic coronary artery circulation may be a index of the state of stenosis and coronary artery in supravalvular aortic stenosis. We have presented this case and reviewed the literatures.

Keywords :Williams elfin facies syndrome; Supravalvular aortic stenosis.