| Duane retraction syndrome, nystagmus, retinal pigment epitheliopathy and epiretinal membrane with micro- and pachygyria, developmental delay, hearing loss and craniopharyngioma. | |
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MedLine Citation:
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PMID: 19172504 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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PURPOSE: To report the association of Duane syndrome with nystagmus and a patterned hyperpigmentation of the retinal pigment epithelium, developmental delay, micro- and pachygyria and craniopharyngioma. CASE REPORT: We describe a 12-year old girl with developmental delay, hearing loss, cortical micro- and pachygyria, and a cystic craniopharyngioma; her ocular features include unilateral Duane syndrome, monocular nystagmus under binocular conditions, and a patterned hyperpigmentation of the retinal pigment epithelium. Her mother had similar retinal pigment epithelial abnormalities. CONCLUSIONS: The combination of two neuronal migrational disorders, the unusual retinal pigment epithelial abnormalities in the proband and her mother, and evidence that each feature may be genetic and are suggestive of a genetic basis for this constellation of features. |
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Authors:
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Savino D'Amelio; Natalie Lassen; Vasilis Vasiliou; J Bronwyn Bateman |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Ophthalmic genetics Volume: 30 ISSN: 1744-5094 ISO Abbreviation: Ophthalmic Genet. Publication Date: 2009 Mar |
Date Detail:
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Created Date: 2009-01-27 Completed Date: 2009-03-11 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9436057 Medline TA: Ophthalmic Genet Country: England |
Other Details:
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Languages: eng Pagination: 7-12 Citation Subset: IM |
Affiliation:
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Department of Pediatric Ophthalmology, Ophthalmic Hospital C. Sperino, Turin, Italy. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple* Child Craniopharyngioma / genetics, pathology* Developmental Disabilities / genetics, pathology* Duane Retraction Syndrome / genetics, pathology Epiretinal Membrane / genetics, pathology Eye Abnormalities / genetics, pathology* Female Hearing Loss, Sensorineural / genetics, pathology* Humans Lissencephaly / genetics, pathology* Magnetic Resonance Imaging Nystagmus, Pathologic / genetics, pathology Pituitary Neoplasms / genetics, pathology* Retinal Diseases / genetics, pathology Retinal Pigment Epithelium / pathology |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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