title: Septo-optic-dysplasia-schizencephaly. Radiographic and clinical features.
abstract: The anatomical anomalies that characterize septo-optic-dysplasia (deMorsier Syndrome) are variable and often subtle. We report imaging studies of nine patients with septo-optic-dysplasia which provide radiologic and ultrasonographic clues to this disorder. In addition, we propose that cerebral schizencephaly may be a component of the dysmorphogenesis that results in septo-optic-dysplasia. Septo-optic-dysplasia-schizencephaly complex is frequently associated with endocrinologic, ophthalmologic, and neurologic symptoms and signs.
authors.affiliation: Department of Neurology, Harvard Medical School, Boston, Massachusetts.
authors.forename: K C
authors.initials: KC
authors.lastname: Kuban
authors.forename: R L
authors.initials: RL
authors.lastname: Teele
authors.forename: J
authors.initials: J
authors.lastname: Wallman
mesh_terms: D000293:Adolescent; D001921:Brain / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009900:Optic Nerve / Q000473:pathology*; D012688:Septum Pellucidum / Q000002:abnormalities*; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography