Cardiofaciocutaneous syndrome: case report and literature review

Report the case of an ambulatory patient diagnosed with syndrome Cardiofaciocutanea and alerts to your underdiagnosis since it's phenotypic similar to other syndromes socially known and also highlights the need for a multidisciplinary team. Case description: Female patient, brown, 6 years and 11 months, term birth, no birth complications, with maternal hypertension and urinary tract infection on the first and third trimester of pregnancy. At birth weight and length appropriate for gestational age with PCA, CIV + CIA without hemodynamic repercussion. During the breastfeeding, the phase had a delay in psychomotor development with malnutrition secondary to a swallowing disorder, JUP stricture with hydronephrosis, and lacrimal sac cyst. At 6 years the diagnosis was made with genomic DNA analysis by PCR amplification and subsequent direct sequencing that confirmed a pathogenic mutation for her disease. Currently, weight is 14,9kg and height 101 cm, with delayed psychomotor development of about four years. Comments: The Cardiofaciocutânea syndrome is a rare autosomal dominant genetic disease with few cases described worldwide, it results from a mutation of genes in the RAS/ mitogen-activated protein kinase pathway. It is being considered as a RASopathies with Noonan and Costello with similar phenotypic characteristics. The syndrome is characterized by heart diseases, mental retardation and a delay in growth.