CONGENITAL HYDROCEPHALUS AND EYE ABNORMALITIES WITH SEVERE DEVELOPMENTAL BRAIN DEFECTS - WARBURGS SYNDROME

被引:56
作者
BORDARIER, C [1 ]
AICARDI, J [1 ]
GOUTIERES, F [1 ]
机构
[1] HOP ENFANTS MALAD, GENET MED CLIN, F-75743 PARIS 15, FRANCE
关键词
D O I
10.1002/ana.410160112
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Five patients are reported with Warburg''s syndrome, characterized by: congenital hydrocephalus; severe neonatal neurological dysfunction; abnormalities of the anterior and posterior chambers of the eyes; absence of known cause; and severe developmental abnormalities of cortical gyration and architectonics. The syndrome can be diagnosed during life on the conjunction of the first 4 features listed. Evidently this syndrome is a genetically determined condition with an autosomal recessive mode of inheritance and with a 25% recurrence risk for offspring of the parents of an affected infant.
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页码:60 / 65
页数:6
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