title: Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome.
abstract: 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.
authors.affiliation: Department of Pediatrics, Asahikawa Habilitation Center for Disabled Children, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Tanaka
authors.forename: J
authors.initials: J
authors.lastname: Ito
authors.forename: K
authors.initials: K
authors.lastname: Cho
authors.forename: M
authors.initials: M
authors.lastname: Mikawa
mesh_terms: D002675:Child, Preschool; D004827:Epilepsy / Q000175:diagnosis / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005625:Frontal Lobe / Q000002:abnormalities / Q000473:pathology; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006627:Hirschsprung Disease / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D013702:Temporal Lobe / Q000002:abnormalities / Q000473:pathology; D014057:Tomography, X-Ray Computed