Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2013  |  Volume : 16  |  Issue : 3  |  Page : 422-424

Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome


Division of Neurology, Department of Pediatrics, Children's Hospital Los Angeles, California, Keck School of Medicine of University of Southern California, USA

Correspondence Address:
Jay Desai
MD Children's Hospital Los Angeles, California, Keck School of Medicine of University of Southern California, 4650 Sunset Boulevard # 82, Los Angeles, California, 90027
USA
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.116924

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Brain malformations such as agenesis and dysgenesis of corpus callosum, pituitary hypoplasia, hypothalamic hamartoma, mesial temporal periventricular heterotopia, and abnormally oriented and misshapen hippocampi have been described with SOX2 gene mutations. A neocortical malformation is presented here in association with SOX2 deletion that over time underwent spontaneous evolution and decrease in size.


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