DiGeorge/velocardiofacial syndrome: a case report

Abstract

DiGeorge syndrome, also known as velocardiofacial syndrome or 22q11 deletion syndrome, is characterized by the congenital absence of the thymus and the parathyroid gland. The classic triad of this disorder is congenital heart disea-se, endocrinopathy with hypocalcemia and primary immunodeficiency. However, the syndrome may exhibit multiple pleotropic abnormalities and clinical manifes-tations that often result in facial dysmorphism and changes in the palate. Clinically, a high susceptibility to recurrent respiratory or gastrointestinal infections is observed. In cases of thymic aplasia, treatment with prophylactic antibiotics and thymic transplantation is necessary, while in others, expectant management is used. This manuscript presents the case of an 18-month old male patient, referred to the ge-netics service due to several phenotypic alterations. The process by which the Di-George syndrome diagnosis, management and prognosis was reached, as well as a brief review of the literature, are presented.