Septo-optic-dysplasia-schizencephaly

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.