Journal of the Korean Pediatric Society 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
Williams Elfin Facies Syndrome 1 례
신경진1, 송헌섭1, 박병숙1, 최인수1, 주찬웅1, 조중구2
1전북대학교 의과대학 소아과학교실
2전북대학교 의과대학 흉부외과 학교실
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.
Key Words: Williams elfin facies syndrome, Supravalvular aortic stenosis.




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