Goldberg-Shprintzen Syndrome & Cerebral Dysgenesis

Abstract

A 5-year-old girl with Goldberg-Shprintzen syndrome and an abnormal CT scan suggesting neuronal migration defect or brain dysgenesis is reported from the Departments of Pediatrics, Asahikawa Habilitation Center, and Kitami Red Cross Hospital, Japan.

Keywords

• goldberg-shprintzen syndrome
• hirschsprung disease
• waardenburg