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. Hirschsprung disease was diagnosed at age 4 days, and congenital heart disease with heart failure at 3 months. Clonic convulsions developed at 5 years. Motor development was severely delayed; she sat at 15 months and was unable to stand at 5 years. She had microcephaly, hypertelorism, broad nasal bridge, high-arched palate, thick eyebrows, and an IQ of 25. CT showed frontal and temporal lobe atrophy. The clinical findings in 8 additional patients are summarized from published reports. No chromosomal abnormalities were detected. [1]

COMMENT.Waardenburg (congenital deafness, white forelock and depigmented, joined eyebrows, heterochromia iridum, broad nasal bridge) and Smith-Lemli-Opitz (micrognathia, microcephaly, retardation, broad nose and anteverted nostrils, skeletal and urogenital abnormalities) syndromes have similar facial features to those of G-P syndrome and are sometimes complicated by Hirschprung disease.