| Pontocerebellar hypoplasia type 3 with tetralogy of Fallot. | |
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MedLine Citation:
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PMID: 21880448 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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We report a male infant with pontocerebellar hypoplasia type 3 and tetralogy of Fallot. He showed optic nerve atrophy, progressive microcephaly, severe psychomotor developmental delay, and vesicoureteral reflux. Magnetic resonance imaging revealed severe hypoplasia of the cerebellar vermis and hemisphere, and of the brainstem including the pons, and simplified gyral patterns in bilateral frontal lobes. An unknown etiology differing from other cases of PCH type 3 might have caused not only optic nerve atrophy and hypoplasia of the cerebellum and brainstem, but also cerebral and visceral malformations. To the best of our knowledge, this represents the first report of pontocerebellar hypoplasia with congenital cardiac malformation. |
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Authors:
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Hideo Jinnou; Tohru Okanishi; Hideo Enoki; Shigeru Ohki |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-8-29 |
Journal Detail:
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Title: Brain & development Volume: - ISSN: 1872-7131 ISO Abbreviation: - Publication Date: 2011 Aug |
Date Detail:
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Created Date: 2011-9-1 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 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. |
Affiliation:
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Department of Neonatology, Seirei Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan. |
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