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Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses
Mahesh Prajapat1, Sunil K Kothiwala2, Mohit Sharma3
1Department of Skin and VD, Sawai Man Singh (SMS) Medical College, Jaipur, Rajasthan, India.
Abstract:
Cardiofacio-cutaneous syndrome is a rare genodermatoses with multiple congenital anomalies (MCA) and mental retardation. Although various mutations have been described, the diagnosis can be made clinically based on constellation of symptoms. Herein, we report a classical case with typical craniofacial features and atrial septal defect.
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