| Ectodermal, skeletal, and genitourinary abnormalities with neonatal hyperekplexia. | |
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MedLine Citation:
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PMID: 21481749 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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A new syndrome of the major form of hyperekplexia with neonatal onset is described. An infant manifested multisystem involvement with ectodermal anomalies, including lymphedema and double eyelashes (lymphedema-distichiasis syndrome), genitourinary anomalies, and skeletal dysplasia. Despite extensive genetic evaluation, no cytogenetic or molecular etiologies were identified. The literature was reviewed to assess other unusual neurologic and nonneurologic features that have been reported in association with neonatal-onset hyperekplexia-that is, hyperekplexia-plus syndromes. |
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Authors:
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Gary N McAbee; Anne Marie Santilli; Jennifer Stone; Rhonda E Schnur |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 44 ISSN: 1873-5150 ISO Abbreviation: Pediatr. Neurol. Publication Date: 2011 May |
Date Detail:
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Created Date: 2011-04-12 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8508183 Medline TA: Pediatr Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 381-4 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Elsevier Inc. All rights reserved. |
Affiliation:
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Division of Neurology, Department of Pediatrics, Robert Wood Johnson School of Medicine, and Children's Regional Hospital and Cooper University Hospital, Camden, New Jersey. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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