Pena-Shokeir phenotype associated with bilateral opercular polymicrogyria.
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.
Hevner
R F
RF
Department of Pathology (Neuropathology); Stanford University Medical Center, California 94305-5324, USA.
Horoupian
D S
DS
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D004292:Dominance, Cerebral / Q000502:physiology*; D005260:Female; D005311:Fetal Hypoxia / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D009410:Nerve Degeneration / Q000502:physiology; D009474:Neurons / Q000473:pathology; D010641:Phenotype; D012307:Risk Factors; D013116:Spinal Cord / Q000473:pathology