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Congenital hydrocephalus and eye abnormalities with severe developmental brain defects: Warburg's syndrome.

Authors
Type
Published Article
Journal
Annals of neurology
Publication Date
Volume
16
Issue
1
Pages
60–65
Identifiers
PMID: 6431899
Source
Medline
License
Unknown

Abstract

Five patients are reported with Warburg's syndrome, characterized by: (1) congenital hydrocephalus, (2) severe neonatal neurological dysfunction, (3) abnormalities of the anterior and posterior chambers of the eyes, (4) absence of known cause, and (5) severe developmental abnormalities of cortical gyration and architectonics. Fourteen similar published cases are reviewed. The syndrome can be diagnosed during life on the conjunction of the first four features listed. Evidence is adduced that 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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