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. 2020 Oct 5;5:44. doi: 10.1038/s41525-020-00150-z

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© The Author(s) 2020

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as 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 images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 3 — Index and sister are homozygous for NM_018463.3:c.361C>T, p.Gln121* and parents are confirmed heterozygous carriers. Photographs of male index (12 years old) and female sibling (10 years old) showing mild dysmorphic features. Male index: thick hair, narrow forehead, bushy eyebrows with synophris, almond-shape eyes, long eyelashes, broad nasal bridge, short columella, short and marked philtrum with Cupid bow and small mouth. Sister: narrow forehead, bushy eyebrows with synophris, small eyes almond shaped, short palpebral fissure, long eyelashes, broad and tall nasal bridge, thin lips with small mouth. Corresponding IGV image in exon 4 of ITFG2 is shown (variant QS = 5165 and 4733 in index and sibling, respectively). Parents of the patients provided written informed consent for the use of their children images in scientific publication.