Opitz J M, Kaveggia E G, Adkins W N, Gilbert E F, Viseskul C, Pettersen J C, Blumberg B
Am J Med Genet. 1982 Jun;12(2):147-54. doi: 10.1002/ajmg.1320120205.
The brain findings at autopsy of an 18-year-old male with FG syndrome were megalencephaly, midline fusion of mammillary bodies, heterotopia of neuroglial tissue in the 7th and 8th nerves, and ependymal cell replacement by neuroglial tissue as well as a diffuse defect of neuronal cell migration evidenced from pachygyria of many gyri, dysgenesis of cerebral cortex, and heterotopia of neurons in the white matter of the centrum ovale. A cousin, studied at 20 weeks' gestational age, had gross turridolichocephaly with enlarged cranium and also multiple minor external and internal anomalies. An affected brother of this fetus died at 17 months of complications of a congenital heart defect and CNS dysfunction. X-linked inheritance of the FG syndrome is confirmed.
一名患有FG综合征的18岁男性尸检时的脑部发现包括巨脑症、乳头体中线融合、第7和第8对神经中神经胶质组织异位、神经胶质组织替代室管膜细胞，以及从多个脑回的巨脑回、大脑皮质发育不全和卵圆中心白质中神经元异位所证实的神经元细胞迁移弥漫性缺陷。一名在孕20周时接受检查的堂兄弟有严重的塔状头畸形伴颅骨增大，还有多处轻微的外部和内部异常。该胎儿的一名患病兄弟在17个月时死于先天性心脏缺陷和中枢神经系统功能障碍的并发症。FG综合征的X连锁遗传得到证实。
