Clinical Notes CATCH 22 Syndrome

CATCH 22 syndrome is characterized by cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, and hypocalcemia. It is associated with a deletion within chromosome 22q11. This syndrome is not a simple disease. It includes DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. In DiGeorge’s original report, he focused on thymic hypoplasia and hypocalcemia. The clinical spectrum was widened to include heart defects and dysmorphic facial appearance. In 1976, Japanese cardiologists reported a group of children with hypertelorism, narrow palpebral fissures, small mouth, nasal speech, and outflow defects of the heart, and suggested the term conotruncal anomaly face. In 1978, Shprintzen et al. reported a group of children with overt or submucous clefting of the palate, cardiac abnormalities, and developmental delay. The dysmorphic features of all of these conditions show considerable overlap and deletions within chromosome 22q11. Wilson et al. proposed that an encompassing term for referring to the group as a whole should be CATCH 22. CATCH 22 syndrome is a recent conception, and in the field of plastic surgery, there are few reports about this syndrome. We describe two recently encountered cases of CATCH 22 syndrome.