{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T02:25:26Z","timestamp":1787192726006,"version":"build-2736575974"},"reference-count":12,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T00:00:00Z","timestamp":1783036800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T00:00:00Z","timestamp":1783036800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>WDR83OS<\/jats:italic>\n                    \u2010related neurodevelopmental disorder is a rare autosomal recessive condition characterized by developmental delay, dysmorphic features and variable hepatic involvement, particularly hypercholanaemia. Here, we report a female patient presenting with global developmental delay, syndromic facial features and scaphocephaly due to sagittal craniosynostosis, representing a previously unreported phenotypic feature. The patient was born to consanguineous parents and exhibited delayed motor and language milestones. Physical examination revealed characteristic dysmorphic features, whereas routine laboratory findings, including liver function tests, were within normal limits. Serum bile acid levels were not assessed. Cranial imaging confirmed sagittal craniosynostosis. Whole exome sequencing identified a novel homozygous nonsense variant in\n                    <jats:italic>WDR83OS<\/jats:italic>\n                    , classified as likely pathogenic according to ACMG criteria. No additional candidate variants, including those associated with craniosynostosis, were detected. This case possibly expands the phenotypic spectrum of\n                    <jats:italic>WDR83OS<\/jats:italic>\n                    \u2010related disorder by identifying scaphocephaly as a novel feature. Our findings highlight the importance of comprehensive genomic evaluation in syndromic neurodevelopmental disorders and suggest that\n                    <jats:italic>WDR83OS<\/jats:italic>\n                    should be considered in the differential diagnosis of patients with craniosynostosis and developmental delay, even in the absence of overt hepatic involvement.\n                  <\/jats:p>","DOI":"10.1002\/jdn.70153","type":"journal-article","created":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T12:32:01Z","timestamp":1783081921000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Scaphocephaly as a Novel Phenotypic Feature of\n                    <i>WDR83OS<\/i>\n                    \u2010Related Neurodevelopmental Disorder: A Case Report With a Novel Variant and Literature Review"],"prefix":"10.1002","volume":"86","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2368-5797","authenticated-orcid":false,"given":"Merve","family":"So\u011fukp\u0131nar","sequence":"first","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics University of Health Sciences, Van Training and Research Hospital  Van T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9788-062X","authenticated-orcid":false,"given":"\u015eeyma","family":"K\u0131l\u0131n\u00e7","sequence":"additional","affiliation":[{"name":"Division of Developmental Pediatrics, Department of Pediatrics University of Health Sciences, Van Training and Research Hospital  Van T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ba\u015fak Uzunyayla","family":"Say\u0131c\u0131","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics University of Health Sciences, Van Training and Research Hospital  Van T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,3]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2024.10.002"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3555"},{"key":"e_1_2_9_4_1","unstructured":"Can A. H.\u00d6zt\u00fcrk G.Kayhan S.Sar\u0131 \u00d6.E\u011frita\u015f G\u00fcrkan andB.Dalg\u0131\u00e7.2025. \u201cA Rare Cause of Normal GGT Cholestasis: Familial Hypercholanemia Secondary to a Mutation in the WDR83OS Gene.\u201d 57th Annual Meeting of the European Society of Paediatric Gastroenterology Hepatology and Nutrition Helsinki Finland."},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41586\u2010020\u20102624\u2010y"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature21062"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2026076118"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010018\u20100288\u2010x"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.09.014"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.30982"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1159\/000552675"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacl.2020.12.004"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.70153","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jdn.70153","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.70153","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T02:12:06Z","timestamp":1787191926000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.70153"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,3]]},"references-count":12,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2026,8]]}},"alternative-id":["10.1002\/jdn.70153"],"URL":"https:\/\/doi.org\/10.1002\/jdn.70153","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"value":"0736-5748","type":"print"},{"value":"1873-474X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,3]]},"assertion":[{"value":"2026-05-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-03","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70153"}}