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Warburg syndrome.

Abstract：

:Warburg syndrome is a congenital oculocerebral disorder. It is caused by a genetic defect that simultaneously affects ocular and cerebral embryogenesis. The characteristic ophthalmic findings reflect the cerebral malformation (agyria or lissencephaly). Two cases, siblings, have been described. The characteristic bilateral ocular findings (leukocoria with microphthalmia) have been discussed and contrasted with simulating entities. Since Warburg syndrome is a lethal disorder, it is important to distinguish these affected infants from those with hydrocephalus with a known better prognosis. Lastly, the early recognition of this autosomal recessive disorder should prompt genetic parental counseling.

journal_name

Ophthalmology

journal_title

Ophthalmology

authors

Levine RA,Gray DL,Gould N,Pergament E,Stillerman ML

doi

10.1016/s0161-6420(83)34345-1

subject

Has Abstract

pub_date

1983-12-01 00:00:00

pages

1600-3

issue

12

eissn

0161-6420

issn

1549-4713

pii

S0161-6420(83)34345-1

journal_volume

90

pub_type

杂志文章

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