| Megacystis, megacolon, and malrotation: A new syndromic association? | |
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MedLine Citation:
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PMID: 21739599 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Chronic intestinal pseudo-obstruction (CIPO) can occur as a consequence of neuropathies including diffuse Intestinal Neuronal Dysplasia (IND), a relatively rare enteric nervous system (ENS) abnormality. Although various authors reported of diffuse IND associated either with intestinal malrotation or megacystis, the co-existence of these three entities in the same patient has never been described before. The aim of this paper is to report for the first time in literature a series of patient with such association, focusing on one who carries a de novo duplication of chromosome 12, suggesting a new syndromic association (megacolon, megacystis, malrotation). © 2011 Wiley-Liss, Inc. |
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Authors:
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A Pini Prato; V Rossi; M Fiore; S Avanzini; G Mattioli; F Sanfilippo; A Michelazzi; S Borghini; N Disma; G Montobbio; A Barabino; P Nozza; I Ceccherini; S Gimelli; V Jasonni |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-7-7 |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: - ISSN: 1552-4833 ISO Abbreviation: - Publication Date: 2011 Jul |
Date Detail:
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Created Date: 2011-7-8 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Wiley-Liss, Inc. |
Affiliation:
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Department of Pediatric Surgery, Giannina Gaslini Institute, Genoa, Italy. apinipr@tin.it. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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