CFC syndrome: report on three additional cases.
We describe three patients, originating from three different Italian localities, affected by the cardio-facio-cutaneous (CFC) syndrome. In addition to a varying degree of mental retardation, these patients present characteristics consisting of a peculiar face with bitemporal frontal constriction and other anomalies involving the eyes, nose, ears, hair, skin, and heart that are consistent with this diagnosis.
Sorge
G
G
Clinica Pediatrica I, Universita' di Catania, Italy.
Di Forti
F
F
Scarano
G
G
Ventruto
V
V
Zelante
L
L
Dallapiccola
B
B
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000175:diagnosis*; D005149:Facial Expression; D005183:Failure to Thrive / Q000150:complications; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D009048:Motor Skills; D013577:Syndrome