Oorthuys J W
Tijdschr Kindergeneeskd. 1984 Oct;52(5):197-200.
Monozygotic male twins with the Williams-Beuren or 'elfin-face' syndrome are described. One twin showed the typical signs of supravalvular aortic stenosis, which is consistent with the cardiovascular symptoms usually found in this syndrome. The somatic and genetic aspects of the syndrome are discussed by reviewing the literature.
本文描述了患有威廉姆斯-贝伦综合征(Williams-Beuren syndrome)或“小精灵面容”综合征的单卵男性双胞胎。其中一名双胞胎表现出典型的瓣上主动脉狭窄体征,这与该综合征中通常发现的心血管症状相符。通过回顾文献对该综合征的躯体和遗传学方面进行了讨论。