Extreme variant of septo-optic dysplasia.
A newborn female is demonstrated, the first child of healthy unrelated parents who was born after an uneventful pregnancy. Computerized tomography of the brain revealed gross malformations of the parietal and occipital lobes, of the cerebellum and of midline structures. The pictures are reminiscent of hydranencephaly. The association with bilateral coloboma of the papilla and diabetes insipidus is considered an extreme variant of septo-optico dysplasia.
D001921:Brain / Q000002:abnormalities* / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D005124:Eye Abnormalities; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D009896:Optic Atrophy / Q000175:diagnosis; D014057:Tomography, X-Ray Computed