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. 2023 Aug 16;60(12):1224–1234. doi: 10.1136/jmg-2023-109141

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© Author(s) (or their employer(s)) 2023. 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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Main radiological characteristics of selected patients from our cohort, representative of the skeletal features of KBG syndrome. Arrows indicate the most relevant details. (A) Pt. 10: orthopantomography showing macrodontia of the permanent upper incisors and dental crowding. (B) Pt. 32: macrodontia of the permanent upper incisors, dental crowding. (C) Pt. 1: cervical C2/C3 vertebral fusion. (D) Pt. 21: bilateral cervical ribs. (E) Pt. 12: supernumerary cervical rib on the left side. (F) Pt. 10: bilateral C7 hypertrophic transverse process. (G) Pt. 26: thoracic hyperkyphosis. (H–J) Spinal column anomalies of Pt. 39: tall lumbar vertebral bodies (H), kyphosis (I), left cervical rib and scoliosis due to thoracic hemivertebrae (J). (K–N) Evolution of the main anomalies of hand bones over time: delayed carpal ossification with absence of the proximal row at about 3 years (K) and 6 years of age (L); partial fusion of the lunate and triquetral carpal bones at 9 years (M); complete fusion of the lunate and triquetral bones at 10 years (N). (O) Pt. 32: agenesis of the coccyx: only the outline of the first coccygeal vertebra is present. (P) Pt. 26: supernumerary coccygeal vertebrae. (Q) Pt. 13: short and dysmorphic metatarsal and phalanges of fourth ray, bilaterally (right foot not shown). (R) Pt. 12: broad and short metatarsal and phalanges of first ray, bilaterally. Pt., participant.