WILLIAMS-SYNDROME - AUTOSOMAL-DOMINANT INHERITANCE
WILLIAMS-SYNDROME - AUTOSOMAL-DOMINANT INHERITANCE
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DOI：
10.1002/ajmg.1320470409
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发表时间：
1993-09-15
期刊：
影响因子：
--
通讯作者：
GREENBERG, F
中科院分区：
文献类型：
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作者：
MORRIS, CA;THOMAS, IT;GREENBERG, F
威廉姆斯综合征（WS）通常是偶发性的。很少有威廉姆斯综合征的家族病例被描述，这些报告往往缺乏照片文件。我们描述了3个家庭，包括一个3岁的男孩和他34岁的父亲、一个2岁的女孩和她30岁的母亲、一个3岁的女孩和她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，威廉姆斯综合征的父母被诊断后，在受影响的孩子的综合征的鉴定。(C)1993 Wiley-Liss，Inc.
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. (C) 1993 Wiley-Liss, Inc.