title: Cardiofacio-cutaneous syndrome: Classical presentation of a rare genodermatoses.
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.
authors.affiliation: Department of Skin and VD, Sawai Man Singh (SMS) Medical College, Jaipur, Rajasthan, India.
authors.forename: Mahesh
authors.initials: M
authors.lastname: Prajapat
authors.affiliation: Jaipur National University, Institute for Medical Sciences and Research Centre, Jaipur, Rajasthan, India.
authors.forename: Sunil K
authors.initials: SK
authors.lastname: Kothiwala
authors.affiliation: Department of Cardio-Vascular and Thoracic Surgery, Sawai Man Singh (SMS) Medical College, Jaipur, Rajasthan, India.
authors.forename: Mohit
authors.initials: M
authors.lastname: Sharma
authors.affiliation: Department of Skin and VD, Sawai Man Singh (SMS) Medical College, Jaipur, Rajasthan, India.
authors.forename: C M
authors.initials: CM
authors.lastname: Kuldeep
keywords: Cardiofacio-cutaneous syndrome; RASopathy; genodermatoses