title: The cardio-facio-cutaneous (CFC) syndrome--two possible new cases and review of the literature.
abstract: We report two new patients, a boy and a girl, who show variable but specific manifestations of CFC syndrome. The patients differ in general appearance, severity of skin changes, cardiac involvement and in behaviour. The girl shows some additional clinical features such as easy bruising and altered sensation of the distal part of the limbs, which have never been observed in CFC syndrome, but have been described in a few patients with Noonan syndrome. We discuss our observations in relation to previous cases of CFC syndrome and the possible relationships between the Noonan and CFC syndromes. There is no doubt that the CFC and Noonan syndromes share many manifestations and it is extremely difficult if not impossible unequivocally to distinguish between these two syndromes.
authors.affiliation: Department of Genetics, Memorial Hospital-Child Health Centre, Warsaw, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Krajewska-Walasek
authors.forename: K
authors.initials: K
authors.lastname: Chrzanowska
authors.forename: M
authors.initials: M
authors.lastname: Jastrzbska
mesh_terms: D000015:Abnormalities, Multiple; D005145:Face / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis; D013577:Syndrome