Borradori L, Blanchet-Bardon C
Clinique des maladies cutanées, Centre Hospitalier Universitaire Saint-Louis, Paris.
J Am Acad Dermatol. 1993 May;28(5 Pt 2):815-9. doi: 10.1016/0190-9622(93)70108-6.
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.
