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Free Content “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.

Keywords: DTI = diffusion tensor imaging; JS = Joubert syndrome; RL = rhombic lip; VZ = ventricular zone

Document Type: Research Article

Publication date: November 1, 2017

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