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. 2015 Feb 26;2:15006. doi: 10.1038/hgv.2015.6

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Copyright © 2015 The Japan Society of Human Genetics

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/

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Family pedigrees and clinical pictures of the three reported cases. Case 1: note the dysmorphic facial features and bilateral pre-axial lower limb polydactyl. Magnetic resonance imaging shows a classical molar tooth sign, inferior vermis hypoplasia and subsequent secondary changes in the posterior fossa and corpus callosum agenesis. Case 3: note the overlapping facial features with Case 1; magnetic resonance imaging-brain reveals dysgenesis of the corpus callosum.