PMID: 8972538Nov 1, 1996Paper

Pena-Shokeir phenotype associated with bilateral opercular polymicrogyria

Pediatric Neurology
R F Hevner, D S Horoupian

Abstract

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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Citations

Nov 30, 1999·Annals of Neurology·H YamanouchiY Nakazato
May 3, 2005·Journal of Medical Genetics·A Jansen, E Andermann
Aug 1, 2009·Birth Defects Research. Part A, Clinical and Molecular Teratology·Judith G Hall
Apr 14, 2016·The Annals of Otology, Rhinology, and Laryngology·Serdar KayaSebahattin Cureoglu
Dec 9, 2009·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Erin R RudzinskiRobert F Hevner
Apr 2, 2004·American Journal of Medical Genetics. Part a·Fatma KammounPierre Landrieu
Feb 7, 2007·Journal of Neuropathology and Experimental Neurology·Robert F Hevner

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