| Primary Ciliary Dyskinesia and Hydrocephalus With Acqueductal Stenosis. | |
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MedLine Citation:
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PMID: 22290861 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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We report a female patient with situs inversus, dextrocardia, a complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia. Several animal models of this disorder implicate abnormal ciliary function in the genesis of hydrocephalus, and 11 patients were previously reported with hydrocephalus and the syndrome of primary ciliary dyskinesia. Primary ciliary dyskinesia-associated aqueductal stenosis should be considered as a possible cause for fetal or neonatal hydrocephalus if heterotaxy, heart malformations, and/or a probable genetic etiology are present. |
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Authors:
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José Pedro Vieira Pedro Vieira; Patricia Lopes; Rita Silva |
Publication Detail:
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Type: JOURNAL ARTICLE Date: 2012-1-30 |
Journal Detail:
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Title: Journal of child neurology Volume: - ISSN: 1708-8283 ISO Abbreviation: - Publication Date: 2012 Jan |
Date Detail:
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Created Date: 2012-1-31 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Department of Neurology, Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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