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.
Clinique des maladies cutanées, Centre Hospitalier Universitaire Saint-Louis, Paris.
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Borradori
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Blanchet-Bardon
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