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. 2016 Jun 10;17:42. doi: 10.1186/s12881-016-0304-4

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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. 1 — Photographs of the patient at the age of 9 and 15 months. Note the frontal bossing, mild hypertelorism, broad and depressed nasal bridge, broad mouth with downturned corners, full cheeks and the myopathic face. Both thumbs are held in an adducted posture are terminally broad with aplasia of the nails bilaterally. Big toes are also broad, long, with aplasia of nails