Department of Pediatrics, Eskisehir Osmangazi University, Eskisehir, Turkey.
Pediatr Neurol. 2010 Jul;43(1):76-8. doi: 10.1016/j.pediatrneurol.2010.03.001.
The association of septo-optic dysplasia and cortical dysplasia is described as septo-optic dysplasia-plus. Reports on patients with septo-optic dysplasia-plus have been rare. We describe a 4-year-old girl with septo-optic dysplasia-plus syndrome, characterized by septo-optic dysplasia with schizencephaly, pachygyria, and diabetes insipidus.
描述了颅咽管发育不良和皮质发育不良之间的关联,称为颅咽管发育不良-plus。关于颅咽管发育不良-plus 患者的报告很少。我们描述了一名 4 岁女孩的颅咽管发育不良-plus 综合征,其特征为颅咽管发育不良合并脑裂畸形、无脑回畸形和尿崩症。