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. 2022 Jun 4;6(3):219–223. doi: 10.1002/ped4.12328

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© 2022 Chinese Medical Association. Pediatric Investigation published by John Wiley & Sons Australia, Ltd on behalf of Futang Research Center of Pediatric Development.

This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

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Clinical features and images of the patient with PLOD3 mutation. (A) The patient showed hypertelorism, an upturned nose, and low‐set ears. (B–F) Cerebral magnetic resonance imaging (MRI) of the patient revealed abnormal signals in the bilateral thalamus, basal ganglia, and corona radiata, with multiple intracranial malacias and bleeding foci. White matter volume was decreased in the left cerebral hemisphere. (G) Cranial CT revealed calcification in the anterior ventricle. (H) X‐ray of the left hand showed the distal end of the metacarpal bone was irregular.