The Phenotypic spectrum of dermatological manifestations of the Cardiofaciocutaneous syndrome. First two cases reported in Colombia

Lina Paola González Cardona, Juliana Ordonez Parra, Jorge Armando Rojas Martínez


The Cardiofaciocutaneous syndrome (CFC)  is a genetic disorder with a very low prevalence.  Patients present with facial dismorphism, congenital heart defects, growth retardation and  variable dermatologic findings. Our report includes a phenotypic description and comparison of two  CFC patients with  dermatologic manifestations.

Palabras clave

Cardiofaciocutaneous syndrome, rasopathy, mutation, phenotype

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