Diagnosis: DiGeorge’s syndrome
• In Di George’s syndrome(DGS), there is also a deficiency of parathyroid hormones that gives rise to hypocalcemia, often severe enough to cause tetany and seizures.
• Most of the anomalies in DGS involve cardiac anomalies, abnormal facies, thymic aplasia, cleft palate, and hypocalcemia/hypoparathyroidism (CATCH-22; the 22 is for the abnormal chromosome). Individual features vary widely, even among families.
• DGS includes velo-cardiofacial syndrome, Schprintzen syndrome, and conotruncal anomaly face syndrome among others.
• Prevalence is about 1 in 4,000.
• The genes that contribute to the phenotype have not yet been identified.