{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T11:17:07Z","timestamp":1772191027771,"version":"3.50.1"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T00:00:00Z","timestamp":1665014400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>Craniosynostosis is a premature fusion of cranial sutures, resulting in abnormally shaped skull and brain development disorder. The description of craniosynostosis in patients with <jats:italic>BCL11B<\/jats:italic> mutations is rare. Here, we firstly report a 25-month-old Chinese boy with a novel frameshift variant in <jats:italic>BCL11B<\/jats:italic> gene. The patient was identified c.2346_2361del by whole-exome sequencing and was confirmed to be <jats:italic>de novo<\/jats:italic> by parental Sanger sequencing. This patient presented clinical phenotype of craniosynostosis as well as global developmental delay. He had a small mouth, thin upper lip, arched eyebrows, a long philtrum, midfacial hypoplasia and craniosynostosis. Brain MRI showed brain extracerebral interval and myelination changes, and brain CT with 3D reconstruction showed multi-craniosynostosis. Our study expands the clinical phenotypes of patients with <jats:italic>BCL11B<\/jats:italic> gene mutation, and our findings may help guide clinical treatment and family genetic counseling.<\/jats:p>","DOI":"10.3389\/fped.2022.982361","type":"journal-article","created":{"date-parts":[[2022,10,6]],"date-time":"2022-10-06T12:57:24Z","timestamp":1665061044000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":13,"title":["Case report: A novel truncating variant of BCL11B associated with rare feature of craniosynostosis and global developmental 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