{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T16:20:51Z","timestamp":1788366051626,"version":"build-2803163510"},"reference-count":59,"publisher":"Bioscientifica","issue":"9","license":[{"start":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T00:00:00Z","timestamp":1788307200000},"content-version":"vor","delay-in-days":1,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["journals.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,9,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Congenital scoliosis and congenital vertebral malformations arise from heterogeneous disruptions of vertebral segmentation and formation, leading to a highly variable clinical morphology and associated anomalies. Over the past decade (2015\u20132025), human genetics and developmental biology have clarified core etiologic pathways, particularly somitogenesis\/segmentation clock\u2013wavefront signaling and TBX6-associated congenital scoliosis, while supporting multi-factorial contributions in many apparently sporadic cases. This review integrates morphology with spatiotemporal embryologic windows, linking axial patterning (e.g. RA\u2013HOX context), epigenetic regulation, segmentation clock signaling (Notch\/WNT\/FGF), and downstream tissue-scale effectors to vertebral segmentation defects and three-dimensional curve phenotypes. We propose an evidence-grading scheme (levels A\u2013D) to differentiate well-supported mechanisms and clinically actionable genetic findings from emerging hypotheses and preclinical signals. The synthesis highlights practical implications for molecular diagnosis and variant interpretation, phenotype-informed test selection, and counseling, while outlining priority directions for resolving non-coding\/structural variation, gene\u2013environment interactions, and mechanistic validation.<\/jats:p>","DOI":"10.1530\/eor-2026-0006","type":"journal-article","created":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T15:57:52Z","timestamp":1788364672000},"page":"1005-1014","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-16","source":"Crossref","is-referenced-by-count":0,"title":["Advances in the etiology of congenital scoliosis: from morphology to spatiotemporal molecular mechanisms (2015\u20132025)"],"prefix":"10.1530","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-1753-0694","authenticated-orcid":true,"given":"Yutian","family":"Niu","sequence":"first","affiliation":[{"name":"Department of Orthopedics, Peking Union Medical College Hospital, Chinese 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