| Cerebrovasculopathy in NF1 associated with ocular and scalp defects. | |
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MedLine Citation:
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PMID: 21271658 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Vascular lesions are uncommon in children with neurofibromatosis 1 (NF1) but can cause serious complications. We report on a child with NF1 who presented at 18 months of age with symptomatic stenosis of the left middle cerebral artery and its branches, and associated moyamoya disease. She also had bilateral posterior embryotoxon, left corneal opacity (Peters anomaly), and cutis aplasia of the left scalp. All of these defects may have occurred as a result of disruption of the blood supply caused by NF1 vasculopathy prenatally. This constellation of vascular anomalies has not been previously reported in a patient with NF1. |
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Authors:
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Matt Smith; Manraj K S Heran; Mary B Connolly; Harindar K Heran; J M Friedman; Kimberly Jett; Christopher J Lyons; Paul Steinbok; Linlea Armstrong |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-12-22 |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 155A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-01-28 Completed Date: 2011-05-20 Revised Date: 2011-06-07 |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 380-5 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Wiley-Liss, Inc. |
Affiliation:
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Provincial Medical Genetics Programme, University of British Columbia, Vancouver, British Columbia, Canada. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Anterior Eye Segment
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abnormalities,
pathology Cerebral Angiography Corneal Opacity / etiology, pathology Cytogenetic Analysis Eye Abnormalities / etiology, pathology Female Humans Infant Moyamoya Disease / etiology, pathology* Neurofibromatosis 1 / complications, pathology* Scalp / pathology* Tomography, X-Ray Computed |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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