{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T18:29:46Z","timestamp":1788200986596,"version":"build-2803163510"},"reference-count":18,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T00:00:00Z","timestamp":1787961600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neonatal-Perinatal Medicine"],"abstract":"<jats:p>\n                    We report a term neonate who presented with early-onset conjugated hyperbilirubinemia, acholic stools, and imaging findings concerning for biliary atresia, including a contracted gallbladder and triangular cord sign on abdominal ultrasound. However, intraoperative cholangiography demonstrated normal bile flow. Persistently normal gamma-glutamyl transpeptidase (GGT), cholestasis, and renal tubular dysfunction prompted expanded evaluation. Whole-exome sequencing identified a pathogenic\n                    <jats:italic toggle=\"yes\">VPS33B<\/jats:italic>\n                    variant, confirming Arthrogryposis\u2013Renal dysfunction\u2013Cholestasis (ARC) syndrome. Despite supportive management, his condition progressively declined, and he died at approximately 2\u00a0years of age following worsening cholestasis, reduced oral intake, and cardiorespiratory arrest at home. In this infant, the absence of arthrogryposis represented an incomplete and atypical phenotype at birth of an already rare condition. This case report and review of the literature expands the recognized clinical spectrum of ARC syndrome and underscores the importance of considering genetic etiologies in neonates with low-normal GGT cholestasis when conventional evaluation is inconclusive. Early integration of genomic testing may improve diagnostic accuracy, inform family counseling, and refine clinical decision-making in neonatal cholestasis.\n                  <\/jats:p>","DOI":"10.1177\/19345798261483255","type":"journal-article","created":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T12:04:31Z","timestamp":1788005071000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the diagnostic lens: Whole exome sequencing in a neonate with arthrogryposis\u2013renal dysfunction\u2013cholestasis (ARC) syndrome"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4752-4464","authenticated-orcid":false,"given":"Gayathri","family":"Sreenivasan","sequence":"first","affiliation":[{"name":"Divison of Newborn Medicine, Regional Neonatal Intensive Care Unit, Maria Fareri Children's Hospital (MFCH) at Westchester Medical Center (WMC), Vahalla, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Hedrick","sequence":"additional","affiliation":[{"name":"Divison of Newborn Medicine, Regional Neonatal Intensive Care Unit, Maria Fareri Children's Hospital (MFCH) at Westchester Medical Center (WMC), Vahalla, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-2443-7010","authenticated-orcid":false,"given":"Anita","family":"Ware","sequence":"additional","affiliation":[{"name":"Divison of Newborn Medicine, Regional Neonatal Intensive Care Unit, Maria Fareri Children's Hospital (MFCH) at Westchester Medical Center (WMC), Vahalla, New York, USA"},{"name":"Department of Pediatrics, Boston Children Health Physicians, Valhalla, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8657-490X","authenticated-orcid":false,"given":"Melanie","family":"Leong","sequence":"additional","affiliation":[{"name":"Divison of Newborn Medicine, Regional Neonatal Intensive Care Unit, Maria Fareri Children's Hospital (MFCH) at Westchester Medical Center (WMC), Vahalla, New York, USA"},{"name":"Department of Pediatrics, Boston Children Health Physicians, Valhalla, New York, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,8,29]]},"reference":[{"key":"e_1_3_5_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1325"},{"issue":"5","key":"e_1_3_5_3_2","first-page":"505","article-title":"Liver disease in children caused by defects in hepatocyte polarization and protein trafficking","volume":"60","author":"Gissen P","year":"2015","unstructured":"Gissen P, Arias IM. Liver disease in children caused by defects in hepatocyte polarization and protein trafficking. J Pediatr Gastroenterol Nutr 2015; 60(5): 505\u2013512. https:\/\/doi.org\/10.1097\/MPG.0000000000000633","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"2","key":"e_1_3_5_4_2","first-page":"185","article-title":"Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: report of two siblings and review of the literature","volume":"136","author":"Di Rocco M","year":"2005","unstructured":"Di Rocco M, Callea F, Poliani PL, et al. Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: report of two siblings and review of the literature. Am J Med Genet A 2005; 136(2): 185\u2013190. https:\/\/doi.org\/10.1002\/ajmg.a.30787","journal-title":"Am J Med Genet A"},{"key":"e_1_3_5_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2023-254822"},{"key":"e_1_3_5_6_2","doi-asserted-by":"publisher","DOI":"10.22038\/ijn.2020.46808.1794"},{"key":"e_1_3_5_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng.538"},{"key":"e_1_3_5_8_2","first-page":"8872294","article-title":"A novel mutation of VPS33B gene associated with incomplete arthrogryposis-renal dysfunction-cholestasis phenotype","volume":"2020","author":"Agakidou E","year":"2020","unstructured":"Agakidou E, Agakidis C, Kambouris M, et al. A novel mutation of VPS33B gene associated with incomplete arthrogryposis-renal dysfunction-cholestasis phenotype. Case Rep Genet 2020; 2020: 8872294. https:\/\/doi.org\/10.1155\/2020\/8872294","journal-title":"Case Rep Genet"},{"key":"e_1_3_5_9_2","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.705084"},{"key":"e_1_3_5_10_2","first-page":"43","article-title":"Neonatal cholestasis: differential diagnoses, current diagnostic procedures, and treatment","volume":"3","author":"Gotze T","year":"2015","unstructured":"Gotze T, Blessing H, Grillhosl C, et al. Neonatal cholestasis: differential diagnoses, current diagnostic procedures, and treatment. Front Pediatr 2015; 3: 43. https:\/\/doi.org\/10.3389\/fped.2015.00043","journal-title":"Front Pediatr"},{"key":"e_1_3_5_11_2","doi-asserted-by":"publisher","DOI":"10.24953\/turkjped.2017.04.019"},{"key":"e_1_3_5_12_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12882-022-02851-2"},{"key":"e_1_3_5_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2023.113408"},{"key":"e_1_3_5_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2024.04.006"},{"key":"e_1_3_5_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/s12072-023-10553-6"},{"key":"e_1_3_5_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.8853"},{"key":"e_1_3_5_17_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03486-2"},{"key":"e_1_3_5_18_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-014-0077-3"},{"key":"e_1_3_5_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-026-73631-x"}],"container-title":["Journal of Neonatal-Perinatal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/19345798261483255","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/19345798261483255","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/19345798261483255","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T17:47:41Z","timestamp":1788198461000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/19345798261483255"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,29]]},"references-count":18,"alternative-id":["10.1177\/19345798261483255"],"URL":"https:\/\/doi.org\/10.1177\/19345798261483255","relation":{},"ISSN":["1934-5798","1878-4429"],"issn-type":[{"value":"1934-5798","type":"print"},{"value":"1878-4429","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,29]]},"article-number":"19345798261483255"}}