Warburg (HARD +/- E) syndrome without retinal dysplasia: case report and review.

Warburg (HARD +/- E) syndrome without retinal dysplasia: case report and review. Research Abstract Details 

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Warburg (HARD +/- E) syndrome without retinal dysplasia: case report and review. Abstract Text:

Warburg syndrome is a recently defined autosomal recessive oculocerebral syndrome. It was previously given the acronym HARD +/- E, indicating what were regarded as the pathognomonic features, namely hydrocephalus, agyria, and retinal dysplasia with or without encephalocele. We report the case of a male infant with the typical cerebral features of hydrocephalus, agyria, and pseudoencephalocele, but without retinal dysplasia. Peters' anomaly and optic nerve hypoplasia were the main ocular defects. We believe that anterior chamber defects and optic nerve hypoplasia are the ocular defects more directly related developmentally to the cerebral defects. Definition of ocular defects is important, since diagnosis and counselling rely heavily on ocular signs, which help to distinguish this syndrome from neural tube defects in general.

Warburg (HARD +/- E) syndrome without retinal dysplasia: case report and review. Publishing Authors By Initials

For similar pathological conditions, signs and symptoms: pathologic processes: disease: syndrome research abstracts see: pathological conditions, signs and symptoms: pathologic processes: disease: syndrome research

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Warburg (HARD +/- E) syndrome without retinal dysplasia: case report and review. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: The British journal of ophthalmology

VOLUME: 70

Page Numbers: 742-7

Journal Abbreviation: Br J Ophthalmol

ISSN: 0007-1161

DAY: 28

MONTH: Oct

YEAR: 1986

Warburg (HARD +/- E) syndrome without retinal dysplasia: case report and review. Information

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LANGUAGE: eng

NlmUniqueID: 421041

Warburg (HARD +/- E) syndrome without retinal dysplasia: case report and review. Keywords Mesh Terms:

KEYWORDS: Syndrome

MESH TERMS: diagnosis

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Country: ENGLAND

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MEDLINETA: Br J Ophthalmol

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