{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T05:13:02Z","timestamp":1791090782880,"version":"4.1.0"},"reference-count":45,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1997,2]]},"abstract":"<jats:p>Alagille syndrome (OMIM 118450) is an autosomal dominant disorder associated with abnormalities of the liver, heart, eye, skeleton, and a characteristic facial appearance. Also referred to as the Alagille-Watson syndrome, syndromic bile duct paucity, and arteriohepatic dysplasia, it is a significant cause of neonatal jaundice and cholestasis in older children. In the fully expressed syndrome, affected subjects have intrahepatic bile duct paucity and cholestasis, in conjunction with cardiac malformations (most frequently peripheral pulmonary stenosis), ophthalmological abnormalities (typically of the anterior chamber with posterior embryotoxon being the most common), skeletal anomalies (most commonly butterfly vertebrae), and characteristic facial appearance. Inheritance is autosomal dominant, but expressivity is highly variable. Sibs and parents of probands are often found to have mild expression of the presumptive disease gene, with abnormalities of only one or two systems. The frequency of new mutations appears relatively high, estimated at between 15 and 50%. The disease gene has been mapped to chromosome 20 band p12 based on multiple patients described with cytogenetic or molecular rearrangements of this region. However, the frequency of detectable deletions of 20p12 is low (less than 7%). Progress has been made in the molecular definition of an Alagille syndrome critical region within the short arm of chromosome 20. We will review the clinical, genetic, cytogenetic, and molecular findings in this syndrome.<\/jats:p>","DOI":"10.1136\/jmg.34.2.152","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"152-157","source":"Crossref","is-referenced-by-count":168,"title":["Alagille syndrome."],"prefix":"10.1136","volume":"34","author":[{"given":"I D","family":"Krantz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D A","family":"Piccoli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N B","family":"Spinner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1997,2,1]]},"reference":[{"key":"ref_1","first-page":"301","article-title":"L'atresie des voies biliaires intrahepatiques avec voies biliaires extrahepatiques permtieoanbslMeesdcihceazll'eensfaFnlta.mAmaprrioopnos, de 25 observations","author":"Alagille, D.; Habib, E.C.; Thomassin, N.","year":"1969","unstructured":"Alagille D, Habib EC, Thomassin N.L'atresie des voies biliaires intrahepatiques avec voies biliaires extrahepatiques permtieoanbslMeesdcihceazll'eensfaFnlta.mAmaprrioopnos, de 25 observations. 1969:301-18. Paris: Edi-"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1136\/adc.48.6.459","article-title":"Arteriohepatic dysplasia, familial pulmonary arterial stenosis with neonatal liver disease","volume":"48","author":"Watson, G.H.; Miller, V.","year":"1973","unstructured":"Watson GH, Miller V. Arteriohepatic dysplasia, familial pulmonary arterial stenosis with neonatal liver disease. Arch Dis Child 1973;48:459-66.","journal-title":"Arch Dis Child"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"520","DOI":"10.7326\/0003-4819-91-4-520","article-title":"Arteriohepatic dysplasia: a benign syndrome of intrahepatic cholestasis with multiple organ involvement","volume":"91","author":"Riely, C.A.; Cotlier, E.; Jensen, P.S.; Klatskin, G.","year":"1979","unstructured":"Riely CA, Cotlier E, Jensen PS, Klatskin G. Arteriohepatic dysplasia: a benign syndrome of intrahepatic cholestasis with multiple organ involvement. 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Jf Pediatr 1975;86:63-71.","journal-title":"Jf Pediatr"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1002\/ajmg.1320190215","article-title":"Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members","volume":"19","author":"Shulman, S.A.; Hyams, J.S.; Gunta, R.","year":"1984","unstructured":"Shulman SA, Hyams JS, Gunta R, et al. Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members. AmJMed Genet 1984;19:325-32.","journal-title":"AmJMed Genet"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1136\/jmg.31.6.453","article-title":"Segregation analysis of Alagille syndrome","volume":"31","author":"Dhorne-PolletS, Deleuze J.F.; M, Hadchouel; C, Bonaiti-Pellie","year":"1994","unstructured":"Dhorne-PolletS, Deleuze JF, Hadchouel M, Bonaiti-Pellie C. 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Alagille syndrome: family studies.J7 Med Genet 1995;32:264-8.","journal-title":"J7 Med Genet"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1002\/ajmg.1320240411","article-title":"Howard-Peebles PN. Del(20p) with manifestations of arteriohepatic dysplasia","volume":"24","author":"Byrne, J.L.B.; Harrod, M.J.E.; Friedman, J.M.","year":"1986","unstructured":"Byrne JLB, Harrod MJE, Friedman JM, Howard-Peebles PN. Del(20p) with manifestations of arteriohepatic dysplasia. Am J Med Genet 1986;24:673-8.","journal-title":"Am J Med Genet"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1002\/ajmg.1320350419","article-title":"Alagille syndrome (arteriohepatic dysplasia) and del(20) (p11.2)","volume":"35","author":"Legius, E.; Fryns, J.P.; Eyskens, B.","year":"1990","unstructured":"Legius E, Fryns JP, Eyskens B, et al. Alagille syndrome (arteriohepatic dysplasia) and del(20) (p11.2). 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