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  • Title: Are cardio-facio-cutaneous syndrome and Noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome.
    Author: Leichtman LG.
    Journal: Clin Dysmorphol; 1996 Jan; 5(1):61-4. PubMed ID: 8867661.
    Abstract:
    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.
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