Skin manifestations of cardio-facio-cutaneous syndrome.
The recently described cardio-facio-cutaneous syndrome is within the spectrum of multiple congenital anomalies-mental retardation syndromes. We describe two additional cases and review 22 previously reported cases. Our two patients had many of the cardinal features of the disorder: a peculiar craniofacial appearance with sparse curly hair, low-set posteriorly rotated ears, moderate to severe mental retardation, heart defects, and cutaneous abnormalities such as ichthyosis, widespread keratosis pilaris, keratosis pilaris atrophicans faciei, and palmoplantar keratoderma.
Borradori
L
L
Clinique des maladies cutanées, Centre Hospitalier Universitaire Saint-Louis, Paris.
Blanchet-Bardon
C
C
D000015:Abnormalities, Multiple; D000328:Adult; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities*; D005260:Female; D006330:Heart Defects, Congenital / Q000473:pathology; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D009634:Noonan Syndrome / Q000175:diagnosis; D012871:Skin Diseases / Q000473:pathology; D013577:Syndrome