Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome
oleh: Jay Desai, Tena Rosser
| Format: | Article |
|---|---|
| Diterbitkan: | Wolters Kluwer Medknow Publications 2013-01-01 |
Deskripsi
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.