沃伯格综合征的眼前节异常。新病例研究。

The anterior segment anomalies in the Warburg syndrome. A study of new cases.

作者信息

Alfieri G, Campana G, Valentini G, Giovannucci-Uzielli M L, Lapi E

出版信息

Ophthalmic Paediatr Genet. 1985 Dec;6(3):141-8. doi: 10.3109/13816818509087633.

Abstract

The Warburg syndrome is a primary lethal neurodysplasia recently defined with autosomal recessive inheritance. The clinical diagnosis is based on the association of brain alterations with ocular defects, among which the anterior segment anomalies and the retinal dysplasia appear to be the most significant. The authors report a clinical and histopathological study on personal observations.

摘要

沃伯格综合征是一种最近被定义为常染色体隐性遗传的原发性致死性神经发育异常疾病。临床诊断基于脑部病变与眼部缺陷的关联，其中前段异常和视网膜发育不良似乎最为显著。作者报告了一项基于个人观察的临床和组织病理学研究。