A 5-year-old girl with Hirschsprung disease, unusual facial appearance, 
psychomotor retardation, epilepsy, and congenital heart disease is reported. 
Patients with similar clinical features have been reported and they appear to 
exhibit the recently identified Goldberg-Shprintzen syndrome. It is believed 
that this girl also exhibits this new syndrome. Cranial computed tomography 
demonstrated abnormal findings that may suggest defective neuronal migration 
and/or dysgenesis of the brain. These findings were considered to cause 
psychomotor retardation and epilepsy in this patient.