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Septo-optic dysplasia (SOD) [MIM182230] consisting of a heterogeneous and uncommon condition characterized by the classic triad: optic nerve hypoplasia, abnormalities of pituitary hormone, and defects of the brain midline (including agenesis of the septum pellucidum and/or the corpus callosum; it has also been described associated cortical malformations, it was referred to as SOD plus syndrome). We report the first known case in which the initial diagnostic sign of SOD was a bilateral mydriasis as a manifestation of hypoplasia of both optic nerves, pituitary hypoplasia and cerebral dysgenesis with neuronal migration disorder. We discuss the differential diagnosis of congenital mydriasis. |
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