Derivative 11;22 (emanuel) syndrome: a case report and a review

Case Rep Pediatr. 2013:2013:237935. doi: 10.1155/2013/237935. Epub 2013 Apr 18.

Abstract

Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate, with the classical features of Emanuel syndrome.