Revista de la Sociedad Boliviana de Pediatría
versão impressa ISSN 1024-0675
DiGeorge syndrome and Velo-cardio-facial syndrome are clinical manifestations of 22q11 deletion syndrome, the most common genomic alteration found in humans, 1 for every 4000 births. On one side it includes extreme phenotypes that are easily identiﬁable, but some intermediate forms are difﬁcult to recognize. We present the case of an infant that presented with features compatible with these syndromes, we describe the process that lead us to the diagnosis, the prognosis, and we present a brief revision of the literature.
Palavras-chave : congenital malformations; DiGeorge syndrome; velo-cardio-facial syndrome; 22q11 deletion syndrome.