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DiGeorge Syndrome
Etiology: small part of chromosome 22 is deleted
Imaging: absent thymus
Clinical: CATCH-22 – C – congenital heart disease (particularly conotruncal anomalies), A – abnormal facies (hypertelorism, low set ears, short philtrum), T – thymic hypoplasia, C – cleft palate + cellular immune deficiency, H – hypoparathyroidism with hypocalcemia, 22 – deletion located on chromosome 22
Cases of DiGeorge Syndrome
CXR AP shows a very narrow superior mediastinum while on the lateral view the anterior mediastinum appears empty.Pathologic image shows near-complete absence of the thymus.