Document Detail


Pena-Shokeir phenotype associated with bilateral opercular polymicrogyria.
MedLine Citation:
PMID:  8972538     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
R F Hevner; D S Horoupian
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  15     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  1996 Nov 
Date Detail:
Created Date:  1997-04-02     Completed Date:  1997-04-02     Revised Date:  2006-05-23    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  348-51     Citation Subset:  IM    
Affiliation:
Department of Pathology (Neuropathology); Stanford University Medical Center, California 94305-5324, USA.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / 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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