title: The cardio-facio-cutaneous syndrome: a manifestation of the Noonan syndrome?
abstract: 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.
authors.affiliation: Department of Dermatology, General Hospital, Birmingham, UK.
authors.forename: K A
authors.initials: KA
authors.lastname: Ward
authors.forename: C
authors.initials: C
authors.lastname: Moss
authors.forename: C
authors.initials: C
authors.lastname: McKeown
mesh_terms: D000293:Adolescent; D000328:Adult; D005145:Face / Q000473:pathology*; D005260:Female; D006801:Humans; D009264:Nails, Malformed / Q000473:pathology*; D009634:Noonan Syndrome / Q000145:classification / Q000235:genetics / Q000473:pathology*; D012867:Skin / Q000473:pathology*