Congenital Malformations of Cerebellum

Clin Perinatol. 2022 Sep;49(3):603-621. doi: 10.1016/j.clp.2022.04.003. Epub 2022 Aug 20.


Advances in pre and postnatal neuroimaging techniques, and molecular genetics have increased our understanding of the congenital malformation of the brain. Correct diagnosis of these malformations in regards to embryology, and molecular neurogenetics is of paramount importance to understand the inheritance pattern and risk of recurrence. Lesions detected on prenatal imaging require confirmation either with postnatal ultrasound and/or with MR imaging. With the advent of the faster (rapid) MRI techniques, which can be conducted without sedation, MRI is commonly used in the evaluation of congenital malformation of the brain. Based on neuroimaging pattern, the congenital malformations of the posterior fossa are classified into 4 main categories: (a) predominantly cerebellar, (b) cerebellar and brainstem, (c) predominantly brainstem, and (d) predominantly midbrain malformations.

Keywords: Cerebellum; Cerebral dysplasia; Joubert Syndrome; Macrocerebellum; Rhombencephalosynapsis.

Publication types

  • Review

MeSH terms

  • Brain
  • Cerebellum* / abnormalities
  • Cerebellum* / diagnostic imaging
  • Female
  • Humans
  • Magnetic Resonance Imaging / methods
  • Mesencephalon / abnormalities
  • Neuroimaging* / methods
  • Pregnancy