Three case reports of 22q11.2 deletion syndrome (CATCH22)

Abstract

We report three cases of 22q11.2 deletion syndrome (CATCH22; cardiac defects, abnormal faces, thymic hypoplasia, cleft palate and hypocalcemia with chromosome 22q11.2 deletion) with various complications including hearing loss and nasopharyngeal problems. All three cases we report here had congenital cardiac defects. Two of the three cases had cleft palate, one overt and the other submucoals. Although one of the three cases had a normal hearing level, the other two were almost deaf, one with and the other without inner ear anomalies. The former case was prescribed a hearing aid, and for the latter case, cochlear implantation operation was conducted at the age of three years and seven months. Both of these patients have successfully developed communication skills. CATCH22 shows a variety of phenotypes, including hearing loss and nasopharyngeal malformations, either of which may disturb speech ability and thus, furthermore, mental development of the child. However, this condition may be improved by early and adequate intervention. Thus, otolaryngologists should be familiarized with the typical facial abnormality and most frequent manifestations of this syndrome, and be ready to treat patients with 22q11 deletion, providing them with intensive and individualized prescription at their early stages.