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The cardio‐facio‐cutaneous syndrome: a manifestation of the Noonan syndrome?
Author(s) -
WARD K.A.,
MOSS C.,
MCKEOWN C.
Publication year - 1994
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1994.tb08504.x
Subject(s) - noonan syndrome , diathesis , medicine , dermatology , costello syndrome , osteochondrodysplasia , pathology , immunology , colorectal cancer , cancer , kras
Summary The cardio‐facio‐cutaneous (CFC) syndrome has several features in common with the Noonan syndrome, but is distinguished by the presence of hyperkeratotic skin lesions, abnormal hair, and a lack of familial cases. We describe a family who clearly satisfy the criteria for the CFC syndrome, and show other features which have been reported in the Noonan syndrome but not in the CFC syndrome, namely a haemorrhagic diathesis and ocular abnormalities. This supports the concept that the CFC syndrome is a manifestation of the Noonan syndrome.