Are cardio-facio-cutaneous syndrome and noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome

被引:24
作者
Leichtman, LG [1 ]
机构
[1] EASTERN VIRGINIA MED SCH,DEPT PEDIAT,DIV GENET,NORFOLK,VA 23507
关键词
cardio-facio-cutaneous syndrome; Noonan syndrome; autosomal dominant inheritance;
D O I
10.1097/00019605-199601000-00009
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Cardio-facio-cutaneous syndrome is characterized by complex congenital heart disease, characteristic facies, ectodermal abnormalities, growth failure, and mental retardation. It has been described as a distinctive entity from Noonan syndrome. This paper presents a child with cardio-facio-cutaneous syndrome born to a mother with Noonan syndrome. This is suggestive of cardio-facio-cutaneous syndrome being a variable expression of Noonan syndrome.
引用
收藏
页码:61 / 64
页数:4
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