{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T20:11:08Z","timestamp":1767903068770,"version":"3.49.0"},"reference-count":11,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T00:00:00Z","timestamp":1767830400000},"content-version":"vor","delay-in-days":15,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,12,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Craniosynostosis is one of the most common craniofacial anomalies, resulting from premature fusion of one or more cranial sutures. While most cases are sporadic, a significant number have a genetic etiology, including monogenic mutations. Coronal synostosis, in particular, is frequently associated with genetic variants. Mutations in the zinc finger protein of cerebellum 1 (ZIC1) gene have recently been recognized as a rare cause of coronal craniosynostosis. We report an 11-month-old female infant with a ZIC1 mutation presenting with unilateral left coronal craniosynostosis, microcephaly, and multiple neurodevelopmental and systemic comorbidities. Due to progressive deformity and concerns of raised intracranial pressure, anterior cranial vault expansion with fronto-orbital advancement was performed, resulting in immediate cosmetic improvement. The postoperative course was uneventful, and developmental progress was noted on follow-up. This case illustrates an uncommon presentation within the ZIC1 associated craniosynostosis spectrum and highlights the importance of considering ZIC1 mutations in unexplained unilateral coronal cases, guiding genetic counseling, and surveillance.<\/jats:p>","DOI":"10.1093\/jscr\/rjaf1065","type":"journal-article","created":{"date-parts":[[2025,12,20]],"date-time":"2025-12-20T12:56:48Z","timestamp":1766235408000},"source":"Crossref","is-referenced-by-count":0,"title":["Unilateral craniosynostosis associated with ZIC1 gene mutation: a case report"],"prefix":"10.1093","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-2768-547X","authenticated-orcid":false,"given":"Fahad K","family":"Alsharef","sequence":"first","affiliation":[{"name":"College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) , Sheikh Jaber Al-Sabah Road, Khashm Al An District, PO Box 3660, Riyadh 11481, Riyadh Province ,","place":["Saudi Arabia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7226-5014","authenticated-orcid":false,"given":"Khulood K","family":"Alraddadi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery, Division of Pediatric Neurosurgery, King Abdullah Specialized Children Hospital, Ministry of National Guard Health Affairs , Ar Rimayah District, PO Box 22490, Riyadh 11426, Riyadh Province ,","place":["Saudi Arabia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tariq","family":"Aljared","sequence":"additional","affiliation":[{"name":"College of Medicine, King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) , Sheikh Jaber Al-Sabah Road, Khashm Al An District, PO Box 3660, Riyadh 11481, Riyadh Province ,","place":["Saudi Arabia"]},{"name":"Department of Pediatric Surgery, Division of Pediatric Neurosurgery, King Abdullah Specialized Children Hospital, Ministry of National Guard Health Affairs , Ar Rimayah District, PO Box 22490, Riyadh 11426, Riyadh Province ,","place":["Saudi Arabia"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2026,1,8]]},"reference":[{"key":"2026010810474395600_ref1","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1007\/s13353-017-0423-4","article-title":"Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling","volume":"59","author":"Kutkowska-Ka\u017amierczak","year":"2018","journal-title":"J Appl Genet"},{"key":"2026010810474395600_ref2","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1002\/ajmg.1320550422","article-title":"Genetic study of nonsyndromic coronal craniosynostosis","volume":"55","author":"Lajeunie","year":"1995","journal-title":"Am J Med Genet"},{"key":"2026010810474395600_ref3","doi-asserted-by":"publisher","first-page":"1479","DOI":"10.7150\/ijbs.22373","article-title":"Fibroblast growth factor receptor 2 (FGFR2) mutation related syndromic craniosynostosis","volume":"13","author":"Azoury","year":"2017","journal-title":"Int J Biol Sci"},{"key":"2026010810474395600_ref4","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1007\/s40142-014-0042-x","article-title":"Closing the gap: genetic and genomic continuum from syndromic to nonsyndromic craniosynostoses","volume":"2","author":"Heuz\u00e9","year":"2014","journal-title":"Curr Genet Med Rep"},{"key":"2026010810474395600_ref5","doi-asserted-by":"publisher","first-page":"e391","DOI":"10.1542\/peds.2009-3491","article-title":"Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis","volume":"126","author":"Wilkie","year":"2010","journal-title":"Pediatrics"},{"key":"2026010810474395600_ref6","doi-asserted-by":"publisher","first-page":"S114","DOI":"10.1016\/S0140-6736(13)60554-1","article-title":"Mutations of TCF12, encoding a basic-helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis","volume":"381","author":"Sharma","year":"2013","journal-title":"Lancet"},{"key":"2026010810474395600_ref7","doi-asserted-by":"publisher","first-page":"378","DOI":"10.1016\/j.ajhg.2015.07.007","article-title":"Gain-of-function mutations in ZIC1 are associated with coronal craniosynostosis and learning disability","volume":"97","author":"Twigg","year":"2015","journal-title":"Am J Hum Genet"},{"key":"2026010810474395600_ref8","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1007\/978-981-10-7311-3_13","article-title":"ZIC1 function in normal cerebellar development and human developmental pathology","volume":"1046","author":"Aruga","year":"2018","journal-title":"Adv Exp Med Biol"},{"key":"2026010810474395600_ref9","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1016\/j.ajhg.2015.07.006","article-title":"A genetic-pathophysiological framework for craniosynostosis","volume":"97","author":"Twigg","year":"2015","journal-title":"Am J Hum Genet"},{"key":"2026010810474395600_ref10","doi-asserted-by":"publisher","first-page":"783","DOI":"10.1016\/j.ejmg.2018.10.018","article-title":"Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosis","volume":"61","author":"Vandervore","year":"2018","journal-title":"Eur J Med Genet"},{"key":"2026010810474395600_ref11","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1136\/jmedgenet-2016-104215","article-title":"Diagnostic value of exome and whole genome sequencing in craniosynostosis","volume":"54","author":"Miller","year":"2017","journal-title":"J Med Genet"}],"container-title":["Journal of Surgical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/jscr\/article-pdf\/2026\/1\/rjaf1065\/66308641\/rjaf1065.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jscr\/article-pdf\/2026\/1\/rjaf1065\/66308641\/rjaf1065.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T15:47:47Z","timestamp":1767887267000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jscr\/article\/doi\/10.1093\/jscr\/rjaf1065\/8417388"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,24]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,12,24]]}},"URL":"https:\/\/doi.org\/10.1093\/jscr\/rjaf1065","relation":{},"ISSN":["2042-8812"],"issn-type":[{"value":"2042-8812","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2026,1]]},"published":{"date-parts":[[2025,12,24]]},"article-number":"rjaf1065"}}