The cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome: are they the same?
The distinction between the cardio-facio-cutaneous syndrome (CFC) and the Noonan syndrome (NS) has been based on the presence of a characteristic facies, abnormal hair and skin, and sporadic occurrence. However, all reports of the CFC syndrome comment on the similarity between it and NS, and its sporadic nature is now debatable. This report demonstrates the evolution of the clinical phenotype in a patient with the CFC syndrome and prompts us to question the validity of separating CFC from NS.
Fryer
A E
AE
Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff, U.K.
Holt
P J
PJ
Hughes
H E
HE
D003937:Diagnosis, Differential; D005149:Facial Expression; D006197:Hair / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D015203:Reproducibility of Results; D012868:Skin Abnormalities