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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 hands. A blue square, a red square and a green square indicate a finger shape, joint mobility of fingers and wrists and palmar creases of a single patient, respectively. Patients display typical hand-related features: adducted thumbs; characteristic finger shapes (eg, slender, tapering and/or cylindrical); variable extension or flexion contracture of distal interphalangeal joints, proximal interphalangeal joints and metacarpophalangeal joints; joint hypermobility of fingers and wrists; and acrogeria-like fine palmar creases.