| The Cohen syndrome. Retinal lesions and granulocytopenia. | |
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MedLine Citation:
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PMID: 2348983 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A patient with the Cohen syndrome is described and the literature is reviewed. Electroretinography (ERG) showed that the patient had a tapeto-retinal degeneration. The authors believe that a retinitis pigmentosa-like phenotype is an obligatory sign in patients with the Cohen syndrome. Assessment of a tapeto-retinal dystrophy by electroretinography, however, is often not available for mentally retarded persons. The authors' patient also had granulocytopenia. This was previously described in Finnish patients with Cohen's syndrome. They speculate that this sign is more prevalent in the disorder than would appear from the literature. Alternatively, there may be a type I Cohen syndrome with granulocytopenia and a type II without. |
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Authors:
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M Warburg; S A Pedersen; H Hørlyk |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Ophthalmic paediatrics and genetics Volume: 11 ISSN: 0167-6784 ISO Abbreviation: Ophthalmic Paediatr Genet Publication Date: 1990 Mar |
Date Detail:
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Created Date: 1990-07-11 Completed Date: 1990-07-11 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 8206832 Medline TA: Ophthalmic Paediatr Genet Country: NETHERLANDS |
Other Details:
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Languages: eng Pagination: 7-13 Citation Subset: IM |
Affiliation:
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Gentofte Hospital, Eye Clinic for Patients with Multiple Handicaps, Denmark. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple*
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genetics Adult Agranulocytosis / complications*, genetics Electroretinography Female Fundus Oculi Humans Mental Retardation / complications, genetics Night Blindness / complications Phenotype Retina / pathology Retinal Degeneration / complications*, genetics, pathology Syndrome Vision Disorders / complications, genetics Visual Acuity |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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