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

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.

SUBMITTER: Choudhary MG 

PROVIDER: S-EPMC3652044 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature