| Dilated vein of Galen in Kabuki syndrome. | |
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MedLine Citation:
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PMID: 21330077 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Kabuki syndrome (KS) comprises multiple congenital abnormalities and is characterized by a peculiar facial appearance, dermatoglyphic anomalies, mental retardation, skeletal abnormalities and postnatal growth retardation. We describe the case of a 23-month-old boy with the typical features of KS who had several malformations in the veins of the brain, which had not previously been described in patients with this syndrome. The MRI phlebogram of this patient showed that the vein of Galen was dilated and that it drained anomalously. The sinus rectus was abnormal and the longitudinal inferior venous sinus was absent. In view of this finding, together with the fact that structural brain abnormalities in KS are more frequent than in other congenital syndromes with multiple malformations, we propose that MRI be used in the diagnostic work-up of all patients with KS. |
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Authors:
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Rocío Sánchez-Carpintero; Ana Herranz; César Reynoso; José Luis Zubieta |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-2-15 |
Journal Detail:
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Title: Brain & development Volume: - ISSN: 1872-7131 ISO Abbreviation: - Publication Date: 2011 Feb |
Date Detail:
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Created Date: 2011-2-18 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7909235 Medline TA: Brain Dev Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Elsevier B.V. All rights reserved. |
Affiliation:
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Pediatric Neurology Unit, Department of Pediatrics, University Clinic of Navarra, Spain. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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