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.
References
Nov 15, 1976·Acta Neuropathologica·R S WilliamsV S Caviness
Nov 15, 1978·Acta Neuropathologica·K DvorakZ Juránková
Sep 1, 1974·The Journal of Pediatrics·H H PunnettR T Ellison
May 1, 1968·Neurology·M J Navin, J M Angevine
Sep 1, 1974·The Journal of Pediatrics·S D Pena, M H Shokeir
Jul 1, 1974·Journal of Neuropathology and Experimental Neurology·D P RichmanV S Caviness
Jan 1, 1972·Acta Neuropathologica·G A de León
Feb 1, 1984·Neuropediatrics·M J Marques DiasG Lyon
Jan 1, 1984·Brain & Development·H P Schmitt
Jan 1, 1984·Acta Neuropathologica·I Ferrer
Aug 1, 1980·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·M G Norman
Jul 1, 1952·The Journal of Pathology and Bacteriology·L CROME
Jan 1, 1954·Virchows Archiv Für Pathologische Anatomie Und Physiologie Und Für Klinische Medizin·P B DIEZEL
Jun 1, 1959·Experimental Neurology·J B RANCK, W F WINDLE
Sep 1, 1959·Journal of Clinical Pathology·L CROME, N E FRANCE
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
May 1, 1991·Pediatric Pathology·K ItohH Itoh
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
Nov 30, 1999·Annals of Neurology·H YamanouchiY Nakazato
Nov 1, 1987·Prenatal Diagnosis·R P MorseJ M Graham
Apr 1, 1989·American Journal of Medical Genetics·E J LammerL B Holmes
Jan 1, 1988·American Journal of Medical Genetics·R HervaP Sourander
Aug 1, 1992·International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience·A BignamiF Rahemtulla
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
Aug 1, 1989·Clinical Genetics·R ErdlT Schramm