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. 2021 Aug 3;12:4680. doi: 10.1038/s41467-021-24852-9

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© The Author(s) 2021

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. 2 — A. Photographs of three individuals demonstrating the shared phenotype. Proband 1 (c.2329dupG) demonstrates mandibular hypoplasia on the left, scar from preauricular skin tag excision on the right, and tragal duplication and facial skin tag on the left side prior to removal. Proband 2 (c.1780-2 A > -) demonstrates maxillary and mandibular hypoplasia on the right side in addition to bilateral tragal abnormalities. Proband 4-1 (c. 1608dupG) presented with maxillary and mandibular hypoplasia and tragal abnormality on the left side, and bilateral preauricular tags. B. Three-dimensional (3D) computed tomography (CT) reconstructions of the craniofacial skeleton of probands 2 and 3. Frontal, lateral, and submental views demonstrate maxillary and mandibular hypoplasia with resulting facial asymmetry. The third row demonstrates, from left to right, 3D CT scans of the cervical spine of Proband 1 and X-rays of Proband 2 and 3. Arrows in each figure indicate the cervical ribs. C. Photographs of family members with a shared SF3B2 startloss variant (p.M1?) demonstrating variable external ear phenotypes. Images of II:2 demonstrate a right ear markedly smaller than the left. Images of II:4 demonstrate a tragal abnormality and scar from prior preauricular skin tag removal, in addition to an epibulbar dermoid. III:3 presented with bilateral tragal abnormalities and tags (right side ear photo from childhood). Images of III:5 show an underdeveloped tragus. III:8 had tragal abnormality, scar from tag excision, right lateral oral cleft, and chin deviation due to mandibular hypoplasia.