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.

• Authors: Madan Gopal Choudhary, Prashant Babaji, Nitin Sharma, Dilip Dhamankar, Gururaj Naregal, Vijay Sunil Reddy
• Journal: Case reports in pediatrics (Case Rep Pediatr) Vol. 2013 Pg. 237935 ( 2013) ISSN: 2090-6803 [Print] United States
• PMID: 23691404 (Publication Type: Journal Article)