title: Update on neuroimaging phenotypes of mid-hindbrain malformations.
abstract: OBJECTIVE
  Neuroimaging techniques including structural magnetic resonance imaging (MRI) and functional positron emission tomography (PET) are useful in categorizing various midbrain-hindbrain (MHB) malformations, both in allowing diagnosis and in helping to understand the developmental processes that were disturbed. Brain imaging phenotypes of numerous malformations are characteristic features that help in guiding the genetic testing in case of direct neuroimaging-genotype correlation or, at least, to differentiate among MHB malformations entities. The present review aims to provide the reader with an update of the use of neuroimaging applications in the fine analysis of MHB malformations, using a comprehensive, recently proposed developmental and genetic classification.
  
  
  METHODS
  We have performed an extensive systematic review of the literature, from the embryology main steps of MHB development through the malformations entities, with regard to their molecular and genetic basis, conventional MRI features, and other neuroimaging characteristics.
  
  
  RESULTS
  We discuss disorders in which imaging features are distinctive and how these features reflect the structural and functional impairment of the brain.
  
  
  CONCLUSIONS
  Recognition of specific MRI phenotypes, including advanced imaging features, is useful to recognize the MHB malformation entities, to suggest genetic investigations, and, eventually, to monitor the disease outcome after supportive therapies.
authors.affiliation: Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, University Hospital of Lille (CHRU), 59037, Lille-Cedex, France, jissendi@gmail.com.
authors.forename: Patrice
authors.initials: P
authors.lastname: Jissendi-Tchofo
authors.forename: Mariasavina
authors.initials: M
authors.lastname: Severino
authors.forename: Béatrice
authors.initials: B
authors.lastname: Nguema-Edzang
authors.forename: Cissé
authors.initials: C
authors.lastname: Toure
authors.forename: Gustavo
authors.initials: G
authors.lastname: Soto Ares
authors.forename: Anthony James
authors.initials: AJ
authors.lastname: Barkovich
mesh_terms: D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008636:Mesencephalon / Q000002:abnormalities* / Q000473:pathology*; D009421:Nervous System Malformations / Q000235:genetics / Q000473:pathology; D059906:Neuroimaging / Q000379:methods*; D012249:Rhombencephalon / Q000002:abnormalities* / Q000473:pathology*