VCFS SYNDROME IN A CHILD OF 7-YEAR-OLD: A CASE REPORT

Velocardiofacial syndrome (VCFS), also referred to as DiGeorge syndrome or 22q11 deletion syndrome, is a complex genetic disorder characterized by the congenital absence of the thymus and the parathyroid gland. This condition typically presents with a triad of congenital heart disease, endocrinopathy featuring hypocalcaemia, and primary immunodeficiency. Beyond this classic triad, VCFS exhibits pleiotropic abnormalities and diverse clinical manifestations, often leading to facial dysmorphism and palate alterations. Patients with VCFS are particularly susceptible to recurrent respiratory or gastrointestinal infections. In cases where thymic aplasia is observed, prophylactic antibiotic therapy and thymic transplantation are essential for effective management, while in other instances, expectant management strategies are employed. The recognition and understanding of these facets of VCFS are critical for comprehensive patient care and effective interventions. In this case study, we present a 7-year-old male who came to our clinic for a routine well-child evaluation. The presence of distinctive dysmorphic traits raised concerns about the possibility of VCFS, but we couldn't conclusively confirm this diagnosis due to the patient's discontinuation of follow-up.