Abstract
Apert syndrome and septo-optic dysplasia are rare congenital structural disorders which have not been associated previously; we report a female infant with this association. Brain sonography and computed tomography revealed agenesis of the septum pellucidum; optic hypoplasia was demonstrated by funduscopic evaluation. We postulate that an embryopathic factor, which manifests at 5–6 weeks gestation, may result in this new association. Transverse craniectomy was performed in the hope of preserving brain development. Neither hypopituitarism nor adrenal insufficiency was observed; however, clinical manifestations and laboratory data provided evidence of inappropriate antidiuretic hormone syndrome.
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