“Kinks and Clefts”: A Review of Congenital Brain Stem Abnormalities
Due to advances in MR imaging and molecular genetics in recent years, there have been attempts to classify malformations of the brain stem into distinct groups. In this review, we aimed to demonstrate a number of brain stem abnormalities and attempted to relate them to the underlying
molecular genetics to enable an understanding of how a failure of specific cellular processes can lead to characteristic morphologic changes.
Learning Objective: Gain an understanding of the embryologic development of the midbrain and hindbrain with reference to the underlying molecular genetics, relate dysfunctional molecular processes to their clinical imaging phenotypes, and recognize their imaging appearances to aid in the reporter's contribution to multidisciplinary discussions with a view to improved prognostication and counselling.
Learning Objective: Gain an understanding of the embryologic development of the midbrain and hindbrain with reference to the underlying molecular genetics, relate dysfunctional molecular processes to their clinical imaging phenotypes, and recognize their imaging appearances to aid in the reporter's contribution to multidisciplinary discussions with a view to improved prognostication and counselling.
Keywords: DTI = diffusion tensor imaging; JS = Joubert syndrome; RL = rhombic lip; VZ = ventricular zone
Document Type: Research Article
Publication date: 01 November 2017
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