SEPTO-OPTIC DYSPLASIA IN 2 SIBLINGS

被引:39
作者
BENNER, JD
PRESLAN, MW
GRATZ, E
JOSLYN, J
SCHWARTZ, M
KELMAN, S
机构
[1] UNIV MARYLAND,SCH MED,DEPT OPHTHALMOL,BALTIMORE,MD 21201
[2] UNIV MARYLAND,SCH MED,DEPT PEDIAT,BALTIMORE,MD 21201
[3] UNIV MARYLAND,SCH MED,DEPT RADIOL,BALTIMORE,MD 21201
关键词
D O I
10.1016/S0002-9394(14)72430-4
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
We treated two siblings, a sister and brother, who had features of septo-optic dysplasia, including bilateral optic nerve hypoplasia, absent septum pellucidum, and partial pituitary insufficiency. Additionally, midline centeral nervous system abnormalities of the corpus callosum and cerebellum were shown. The familial occurrence of this disorder raises the possibility of autosomal-recessive inheritance.
引用
收藏
页码:632 / 637
页数:6
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