| Congenital nystagmus, anisomyopia, and hemimegalencephaly in the Klippel-Trenaunay-Weber syndrome. | |
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MedLine Citation:
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PMID: 1850461 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Klippel-Trenaunay-Weber syndrome is a rare phacomatosis of uncertain aetiology, variable expression, and disputed pathogenesis, whose cardinal signs are cutaneous angiomas, varicosities, tissue hypertrophy, and arteriovenous fistulae. The case reported herein is the first description of an unusual variant with limb and facial hemihypertrophy, congenital nystagmus, progressive ipsilateral anisomyopia, and strabismus. We review the ophthalmic findings and report the co-occurrence of hemimegalencephaly with congenital nystagmus and ipsilateral axial anisomyopia. |
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Authors:
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J P Burke; N F West; I M Strachan |
Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of pediatric ophthalmology and strabismus Volume: 28 ISSN: 0191-3913 ISO Abbreviation: J Pediatr Ophthalmol Strabismus Publication Date: 1991 Jan-Feb |
Date Detail:
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Created Date: 1991-05-29 Completed Date: 1991-05-29 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7901143 Medline TA: J Pediatr Ophthalmol Strabismus Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 41-4 Citation Subset: IM |
Affiliation:
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Department of Ophthalmology, Royal Hallamshire Hospital, Sheffield, England. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple Anisometropia / complications* Brain / abnormalities*, radiography Child, Preschool Female Humans Klippel-Trenaunay-Weber Syndrome / complications* Nystagmus, Pathologic / congenital* Strabismus / complications Tomography, X-Ray Computed |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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