title: Brain imaging and genetic risk in the pediatric population, part 2: congenital malformations of the central nervous system.
abstract: In 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.
authors.affiliation: 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.
authors.forename: Maria Gabriela
authors.initials: MG
authors.lastname: Longo
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Themis Maria
authors.initials: TM
authors.lastname: Félix
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Post Graduation Program on Genetics and Molecular Biology, Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Rio Grande do Sul, Brazil.
authors.forename: Patricia
authors.initials: P
authors.lastname: Ashton-Prolla
authors.affiliation: Radiology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Rio Grande do Sul, Brazil; Radiology Service, Hospital de Clınicas de Porto Alegre and Hospital Moinhos de Vento, Rio Grande do Sul, Brazil. Electronic address: lvedolin@hcpa.ufrgs.br.
authors.forename: Leonardo Modesti
authors.initials: LM
authors.lastname: Vedolin
mesh_terms: D001921:Brain / Q000473:pathology*; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000235:genetics*; D002648:Child; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D012307:Risk Factors
keywords: Brain imaging; Congenital malformations; Genetics; MRI; Magnetic resonance