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. 2016 Jul 19;11:100. doi: 10.1186/s13023-016-0481-4

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© The Author(s). 2016

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 4 — Example longitudinal MRI examination in one girl with PCH2A at the age of 6 months and 10 years, illustrating the severe hypoplasia of pons and cerebellum already in infancy. Note that the scale of both images is identical, indicating hardly any brain volume increase after ten years of life (but thickened skull), with larger CSF spaces suggesting atrophy, with some frontal lobe dominance