Síndrome velocardiofacial. Reporte de caso

Abstract

Velocardiofacial syndrome (VCFS) was described by Angelo DiGeorge in 1965; years later, this pathology also took the name of DiGeorge syndrome (DGS) and is now known as 22q11 deletion syndrome. This pathology presents a clinical triad identified by congenital heart disease, primary immunodeficiency, and endocrinopathy with hypocalcemia. There are more than 190 alterations, in which 100% of the patients have facial phenotypic characteristics such as an elongated face, while 90% have palate alterations, 80 to 85% have cardiovascular defects, and 10 to 20% have hypocalcemia accompanied by immunological alterations; in adolescents, 10% may present schizophrenia, and in adults, there is a 4% prevalence to develop bipolar disorder. The patient was a female newborn with no prenatal history. DiGeorge Syndrome was diagnosed due to the clinical characteristics of the patient, who was also in the NICU with FiO240% of oxyhood due to in-hospital pneumonia. In conclusion, VCFS is a deletion of chromosome 22q11.2, with prominent craniofacial, thymic, and cardiac anomalies. Regarding the diagnosis, the best test to detect this pathology is FISH; once the diagnosis is confirmed, the treatment should be performed individually for each patient since not everyone presents with the same clinical manifestations