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Septo-optic dysplasia in two siblings.

作者信息

Benner J D, Preslan M W, Gratz E, Joslyn J, Schwartz M, Kelman S

机构信息

Department of Ophthalmology, University of Maryland School of Medicine, Baltimore.

出版信息

Am J Ophthalmol. 1990 Jun 15;109(6):632-7. doi: 10.1016/s0002-9394(14)72430-4.

DOI:10.1016/s0002-9394(14)72430-4
PMID:2346191
Abstract

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 central nervous system abnormalities of the corpus callosum and cerebellum were shown. The familial occurrence of this disorder raises the possibility of autosomal-recessive inheritance.

摘要

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