title: The cardio-facio-cutaneous syndrome: a long-term follow-up of two patients, with special reference to the neurological features.
abstract: The cardio-facio-cutaneous (CFC) syndrome is a newly recognized syndrome characterized by congenital heart defects, a particular facial appearance and abnormalities of hair and skin; apart from these, the most evident signs are mental retardation and other neurological abnormalities. Some of the phenotypic manifestations resemble those of Noonan syndrome, but this involves different neurological problems. We report on two children affected by cardio-facio-cutaneous syndrome who have been followed up for at least 6 years. The psychomotor retardation was severe. During the follow-up period we made a careful analysis of the neurological aspects of the course in these two patients and wish to stress that some neurological features are peculiar to this syndrome and can be useful in the diagnosis.
authors.affiliation: Department of Neonatology, University of Chieti, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Sabatino
authors.forename: A
authors.initials: A
authors.lastname: Verrotti
authors.forename: S
authors.initials: S
authors.lastname: Domizio
authors.forename: B
authors.initials: B
authors.lastname: Angeiozzi
authors.forename: F
authors.initials: F
authors.lastname: Chiarelli
authors.forename: G
authors.initials: G
authors.lastname: Neri
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001921:Brain / Q000002:abnormalities*; D001931:Brain Mapping; D002540:Cerebral Cortex / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D002648:Child; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D004292:Dominance, Cerebral / Q000502:physiology; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D010641:Phenotype; D012868:Skin Abnormalities