{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T12:31:33Z","timestamp":1782909093234,"version":"3.54.5"},"reference-count":15,"publisher":"Springer Publishing Company","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Neonatal Network"],"published-print":{"date-parts":[[2017]]},"abstract":"<jats:p>A<jats:sc>bstract<\/jats:sc><\/jats:p><jats:p>Alagille syndrome (AGS) is a highly complex, multisystem, autosomal dominant disorder that is caused by a defect in the Notch signaling pathway. This syndrome mainly affects the liver, causing significant cholestasis, which is caused by a paucity of intrahepatic bile ducts. There can be cardiac involvement, including, but not limited to, pulmonary stenosis and tetralogy of Fallot. Patients can also present with butterfly vertebra, ocular issues, and vascular events. Because this syndrome follows an autosomal dominant inheritance, it can have variable expression even in the same family line. For infants in the NICU who have a cardiac defect and persistent hyperbilirubinemia after two weeks of age, genetic testing for AGS should be considered. Early detection and diagnosis can lead to improved outcomes. In this discussion of AGS, the clinical features as well as management are discussed.<\/jats:p>","DOI":"10.1891\/0730-0832.36.6.343","type":"journal-article","created":{"date-parts":[[2017,11,29]],"date-time":"2017-11-29T14:35:57Z","timestamp":1511966157000},"page":"343-347","source":"Crossref","is-referenced-by-count":22,"title":["Alagille Syndrome: An Overview"],"prefix":"10.1891","volume":"36","author":[{"given":"Dalacy","family":"Jesina","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"793","published-online":{"date-parts":[[2017,1,1]]},"reference":[{"issue":"3","key":"2019091815550700000_36.6.343.1","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.clinre.2012.03.019","article-title":"Alagille syndrome: an overview","volume":"36","year":"2012","journal-title":"Clin Res Hepatol Gastroenterol"},{"key":"2019091815550700000_36.6.343.2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.181"},{"issue":"6","key":"2019091815550700000_36.6.343.3","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1097\/MPG.0b013e3181d98ea8","article-title":"Medical management of Alagille syndrome","volume":"50","year":"2010","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"1","key":"2019091815550700000_36.6.343.4","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1097\/MPG.0b013e3181f1572d","article-title":"Diagnosis of Alagille syndrome\u201425 years of experience at King\u2019s College Hospital","volume":"52","year":"2011","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"2019091815550700000_36.6.343.5","doi-asserted-by":"publisher","DOI":"10.1242\/dev.052118"},{"key":"2019091815550700000_36.6.343.6","doi-asserted-by":"publisher","DOI":"10.1242\/dev.084871"},{"issue":"5","key":"2019091815550700000_36.6.343.7","doi-asserted-by":"crossref","first-page":"567","DOI":"10.3171\/2011.6.SPINE1178","article-title":"Butterfly vertebra with lumbar intervertebral disc herniation","volume":"15","year":"2011","journal-title":"J Neurosurg Spine"},{"key":"2019091815550700000_36.6.343.8","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-010-1363-8"},{"issue":"1","key":"2019091815550700000_36.6.343.9","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1097\/MPG.0b013e3181c1601f","article-title":"Alagille syndrome and liver transplantation","volume":"50","year":"2010","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"2019091815550700000_36.6.343.10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10579"},{"key":"2019091815550700000_36.6.343.11","unstructured":"Allanson J . Alagille syndrome. In: Cassidy S , Allanson J , eds. Management of Genetic Syndromes . Hoboken, NJ: Wiley; 2001:39\u201348."},{"key":"2019091815550700000_36.6.343.12","doi-asserted-by":"publisher","DOI":"10.1093\/ejcts\/ezr310"},{"key":"2019091815550700000_36.6.343.13","unstructured":"Spinner N , Leonard L , Krantz I . Alagille syndrome. In: Pagon RA , Adam MP , Ardinger HH , et al, eds. GeneReviews . Seattle, WA: University of Washington; 2013. http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1273\/. Accessed November 24, 2015 ."},{"issue":"3","key":"2019091815550700000_36.6.343.14","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1097\/MPG.0b013e3181df5fd8","article-title":"Effects of Kasai procedure on hepatic outcome in Alagille syndrome","volume":"51","year":"2010","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"8","key":"2019091815550700000_36.6.343.15","doi-asserted-by":"crossref","first-page":"940","DOI":"10.1002\/lt.23437","article-title":"for Studies of Pediatric Liver Transplantation. Outcomes of liver transplantation for patients with Alagille syndrome: the studies of pediatric liver transplantation experience","volume":"18","year":"2012","journal-title":"Liver Transpl"}],"container-title":["Neonatal Network"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1891\/0730-0832.36.6.343","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,9]],"date-time":"2022-08-09T16:46:01Z","timestamp":1660063561000},"score":1,"resource":{"primary":{"URL":"http:\/\/connect.springerpub.com\/lookup\/doi\/10.1891\/0730-0832.36.6.343"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":15,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2017,1,1]]},"published-print":{"date-parts":[[2017]]}},"alternative-id":["10.1891\/0730-0832.36.6.343"],"URL":"https:\/\/doi.org\/10.1891\/0730-0832.36.6.343","relation":{},"ISSN":["0730-0832","1539-2880"],"issn-type":[{"value":"0730-0832","type":"print"},{"value":"1539-2880","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017]]}}}