Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome

Pediatr Neurol. 1993 Nov-Dec;9(6):479-81. doi: 10.1016/0887-8994(93)90029-c.


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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child, Preschool
  • Epilepsy / diagnosis
  • Epilepsy / genetics*
  • Facial Bones / abnormalities*
  • Female
  • Frontal Lobe / abnormalities
  • Frontal Lobe / pathology
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Hirschsprung Disease / diagnosis
  • Hirschsprung Disease / genetics*
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Syndrome
  • Temporal Lobe / abnormalities
  • Temporal Lobe / pathology
  • Tomography, X-Ray Computed