Coexistence of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome and heterotaxy in a newborn with athymia

Abstract

The case presented highlights a unique presentation of coloboma, heart defects, atresia choanae, growth retardation, genital abnormalities, and ear anomalies (CHARGE) syndrome along with athymia and heterotaxy to establish a possible association between these 2 well-known patterns of multiple malformations.