Clinical features of 22q11.2 deletion syndrome in early childhood

DiGeorge syndrome is characterized by conotruncal heart defects, an immunodeficiency state, and underdeveloped parathyroid glands. Contemporary medicine describes more than 180 clinical forms of this disease, which are usually classified under the heading “chromosome 22q11.2 deletion syndrome” (D 82.1). Along with the above abnormalities, there are other malformations and pathological conditions in 22q11.2DS that not only complicate diagnosis, neonatal nursing, and further management, but also lead to an increased frequency of surgical interventions. This article presents 8 clinical cases of 22q11.2DS with multiple congenital disorders. The children under observation had malformations of the central nervous, maxillofacial, genitourinary, musculoskeletal systems, anorectal region, as well as diaphragmatic and inguinal hernias. Key words: multiple congenital disorders, 22q11.2 deletion syndrome, DiGeorge syndrome, conotruncal congenital heart defects, cleft lip and palate, anorectal malformations, hypoparathyroidism, delayed speech and psychomotor development, primary immunodeficiency