PMID: 3754373Jan 1, 1986Paper

Disturbances in neuronal migration and laminar cortical organization associated with multicystic encephalopathy in the Pena-Shokeir syndrome

Acta Neuropathologica
B H ChoiR C Kim

Abstract

The Pena-Shokeir syndrome is characterized by intrauterine growth retardation, camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia. The condition is thought to be inherited in an autosomal recessive fashion. A detailed neuropathological analysis of the brain of a stillborn full-term male infant who exhibited the gross features of the Pena-Shokeir syndrome revealed diffuse bilateral cerebral polymicrogyria associated with multicystic encephalopathy. Abnormal brain development, which was characterized by disturbances in neuronal migration and laminar cortical organization, was clearly associated with changes of an encephaloclastic nature, namely reactive gliosis and infiltration by macrophages. These findings suggest strongly that the Pena-Shokeir syndrome may also result from teratogenic factors such as intrauterine ischemic and/or hypoxic insults to the developing brain.

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Citations

Jan 1, 1989·Progress in Neurobiology·B H Choi
Nov 1, 1996·Pediatric Neurology·R F Hevner, D S Horoupian
Jan 1, 1990·Journal of Perinatal Medicine·P ReiserA Schinzel
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
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Jul 1, 1995·Pediatric Pathology & Laboratory Medicine : Journal of the Society for Pediatric Pathology, Affiliated with the International Paediatric Pathology Association·H J Porter
Aug 12, 2009·Seminars in Fetal & Neonatal Medicine·Paul Govaert
Aug 1, 2009·Birth Defects Research. Part A, Clinical and Molecular Teratology·Judith G Hall
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Jan 1, 1988·American Journal of Medical Genetics·R HervaP Sourander
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Jan 1, 1992·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·A Bignami, R Asher
Jul 1, 1994·Journal of Medical Genetics·K Vuopala, R Herva

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