The Phenotypic spectrum of dermatological manifestations of the Cardiofaciocutaneous syndrome. First two cases reported in Colombia
Resumen
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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PDF (English)DOI: http://dx.doi.org/10.31879/rcderm.v38i1.287
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