Jordán Martínez J, Fullana Montoro A, Ortiz Ramos P, Pérez Martínez V
An Esp Pediatr. 1986 May;24(5):291-7.
Beuren-Williams syndrome is characterized by elfin face, mental retardation in addition to cardiovascular lesions, which consist in supravalvular aortic stenosis and peripheral pulmonary stenosis. Twenty patients having this syndrome are reported with special emphasis on their cardiovascular abnormalities.
布伦-威廉姆斯综合征的特征为小精灵样面容、除心血管病变外的智力迟钝,心血管病变包括主动脉瓣上狭窄和周围肺动脉狭窄。本文报告了20例患有该综合征的患者,并特别强调了他们的心血管异常情况。