title: Basic genetic principles applied to posterior fossa malformations.
abstract: Recent advances in neuroimaging techniques turned possible for neuroradiologists to be frequently the first one to detect possible brain structural anomalies. However, with all the recent advances in genetics and embryology, understanding posterior fossa malformation's principles is being hardest to be achieved than previously. Studies in vertebrate models provide a developmental framework in which to categorize human hindbrain malformations and serve to inform our thinking regarding candidate genes involved in disrupted developmental processes. The main focus of this review was to survey the basic principles of the rhombomere division, anteroposterior and dorsoventral patterning, alar and basal zone concept, and axonal path finding to integrate the knowledge of human hindbrain malformations for better understanding the genetic basis of hindbrain development.
authors.affiliation: *From the Division of Neuroradiology, Santa Casa de Misericórdia de São Paulo, São Paulo; and †Neuroradiology Section, Hospital Moinhos de Vento and Department of Internal Medicine, UFRGS, Porto Alegre, Brazil.
authors.forename: Renato Hoffmann
authors.initials: RH
authors.lastname: Nunes
authors.forename: Ingrid Aguiar
authors.initials: IA
authors.lastname: Littig
authors.forename: Antonio Jose
authors.initials: AJ
authors.lastname: da Rocha
authors.forename: Leonardo
authors.initials: L
authors.lastname: Vedolin
mesh_terms: D003388:Cranial Fossa, Posterior / Q000002:abnormalities* / Q000196:embryology; D005260:Female; D018507:Gene Expression Regulation, Developmental; D050437:Genes, Developmental / Q000235:genetics / Q000502:physiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009421:Nervous System Malformations / Q000175:diagnosis* / Q000235:genetics; D059906:Neuroimaging / Q000379:methods* / Q000639:trends; D012249:Rhombencephalon / Q000002:abnormalities* / Q000196:embryology / Q000254:growth & development; D012680:Sensitivity and Specificity