| Pena-Shokeir phenotype associated with bilateral opercular polymicrogyria. | |
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MedLine Citation:
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PMID: 8972538 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Autopsy examination of an infant with the Pena-Shokeir phenotype revealed bilateral opercular polymicrogyria associated with neuronal loss and ferrugination in the basal ganglia, thalamus, brainstem, and spinal anterior horns. Bilateral opercular polymicrogyria previously has been linked to the developmental form of Foix-Chavany-Marie syndrome, or faciopharyngoglossomasticatory diplegia. In the Pena-Shokeir phenotype, bilateral opercular polymicrogyria may contribute to deficits in swallowing and facial movements. The pattern of brain and spinal cord injury in this case supports previous suggestions that the Pena-Shokeir phenotype (and certain other forms of arthrogryposis multiplex congenita) may be caused by hypoxic-ischemic injury to the developing central nervous system. |
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Authors:
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R F Hevner; D S Horoupian |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Pediatric neurology Volume: 15 ISSN: 0887-8994 ISO Abbreviation: Pediatr. Neurol. Publication Date: 1996 Nov |
Date Detail:
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Created Date: 1997-04-02 Completed Date: 1997-04-02 Revised Date: 2006-05-23 |
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: 348-51 Citation Subset: IM |
Affiliation:
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Department of Pathology (Neuropathology); Stanford University Medical Center, California 94305-5324, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics,
pathology* Brain / abnormalities*, pathology Dominance, Cerebral / physiology* Female Fetal Hypoxia / pathology Humans Infant, Newborn Nerve Degeneration / physiology Neurons / pathology Phenotype Risk Factors Spinal Cord / pathology |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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