• Neuroimaging Clin. N. Am. · Feb 2015

    Brain imaging and genetic risk in the pediatric population, part 2: congenital malformations of the central nervous system.

    • Maria Gabriela Longo, Themis Maria Félix, Patricia Ashton-Prolla, and Leonardo Modesti Vedolin.
    • Radiology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Post Graduation Program on Medical Sciences, Medicine, Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
    • Neuroimaging Clin. N. Am.. 2015 Feb 1;25(1):53-67.

    AbstractIn this article, an update is presented of the correlation of imaging and genetic findings in congenital malformations of the central nervous system (CMCNS). A nonsystematic search of the PubMed/Medline database was performed. The congenital disorders were classified in 3 groups of malformation: ventral induction disorders, cortical malformations, and congenital malformations of the posterior fossa. The highlights of genotype-imaging phenotype correlation of some congenital malformations are provided. It is hoped that developments in genotype-MR phenotype in CMCNS will foster further prognostic and pathogenic breakthroughs for the frequently associated neurologic dysfunction in children affected by these common diseases.Copyright © 2015 Elsevier Inc. All rights reserved.

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