DiGeorge Syndrome (deletion 22q11.2; Velo-Cardio-Facial Syndrome; thymic hypoplasia; CATCH 22)
Are You Confident of the Diagnosis? Characteristic findings on physical examination Deletion 22q11.2 is associated with a wide range of clinical findings. Congenital heart disease occurs in 76% of patients and primarily involves conotruncal malformations, such as tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus. Characteristic facial features include angular facies; small, posteriorly rotated…