Morris C A, Thomas I T, Greenberg F
Department of Pediatrics, University of Nevada School of Medicine, Las Vegas 89102.
Am J Med Genet. 1993 Sep 15;47(4):478-81. doi: 10.1002/ajmg.1320470409.
Williams syndrome (WS) usually occurs sporadically. Few familial cases of Williams syndrome have been described, and those reports have often lacked photographic documentation. We describe 3 families, including a 3-year-old boy and his 34-year-old father, a 2-year-old girl and her 30-year-old mother, and a 3-year-old girl and her 31-year-old mother. None of these patients has supravalvular aortic stenosis or chromosome abnormalities. In all 3 families, the parent with Williams syndrome was diagnosed after the identification of the syndrome in the affected child.
威廉姆斯综合征（WS）通常为散发性。很少有关于威廉姆斯综合征家族病例的描述，而且这些报告往往缺乏照片记录。我们描述了3个家庭，包括一名3岁男孩及其34岁的父亲、一名2岁女孩及其30岁的母亲，以及一名3岁女孩及其31岁的母亲。这些患者均无主动脉瓣上狭窄或染色体异常。在所有3个家庭中，患有威廉姆斯综合征的家长都是在患病儿童被确诊后才被诊断出来的。
