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Skin manifestations of cardio-facio-cutaneous syndrome #MMPMID8491871
Borradori L; Blanchet-Bardon C
J Am Acad Dermatol 1993[May]; 28 (5 Pt 2): 815-9 PMID8491871show ga
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.