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.

译文

心-面-皮肤综合征的特征是复杂的先天性心脏病,特征性的相,外胚层异常,生长衰竭和智力低下。它被描述为Noonan综合征的独特实体。本文介绍了一名患有Noonan综合征的母亲所生的心-面-皮肤综合征的孩子。这提示心-面-皮肤综合征是Noonan综合征的可变表达。

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