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. 2021 Nov 23;59(9):865–877. doi: 10.1136/jmedgenet-2020-107623

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© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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Clinical photographs of feet, thorax, skin, teeth and large subcutaneous haematoma. A blue square, a red square, a green square, a purple square and a yellow square indicate a foot shape, a pectus shape, skin features, teeth and a large subcutaneous haematoma of a single patient, respectively. Patients display talipes deformities including congenital equinovarus and progressive planus and/or valgus with characteristic toes (eg, long, slender and/or deformed). Patients display flat chest or pectus excavatum. Skin involvement includes hyperextensibility, fragility with atrophic scars and fistula formation. Mild to severe tooth irregularity, a high and narrow palate and a large subcutaneous haematoma in the thigh are shown.