{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T22:40:05Z","timestamp":1775860805273,"version":"3.50.1"},"reference-count":3,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,1]]},"abstract":"<jats:p>We report three cases from two unrelated families of infants with arthrogryposis multiplex congenita, cholestatic jaundice, and renal Fanconi's syndrome. In both families the parents were consanguineous. All three children died by 7 months of age. This association was first reported in 1973 by Lutz-Richner and Landolt and again in another family by Nezelof et al in 1979. However, because of differing liver histology the two sibships were considered to have two separate conditions. Based on the histological findings in one of our cases we propose that all cases described so far represent variation within a single syndrome.<\/jats:p>","DOI":"10.1136\/jmg.31.1.62","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"62-64","source":"Crossref","is-referenced-by-count":59,"title":["Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review."],"prefix":"10.1136","volume":"31","author":[{"given":"S P","family":"Horslen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O W","family":"Quarrell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M S","family":"Tanner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1994,1,1]]},"reference":[{"key":"ref_1","first-page":"1","article-title":"Familiare Gallengangsmissbildungen mit tubularer Niereninsuffizienz","volume":"28","author":"Lutz-Richner, A.R.; Landolt, R.F.","year":"1973","unstructured":"Lutz-Richner AR, Landolt RF. Familiare Gallengangsmissbildungen mit tubularer Niereninsuffizienz. Helv Paediatr Acta 1973;28:1-12.","journal-title":"Helv Paediatr Acta"},{"key":"ref_2","first-page":"463","article-title":"Renal tubular insufficiency, cholestatic jaundice and multiple congenital anomalies - a new multisystem syndrome","volume":"39","author":"Mikati, M.A.; Barakat, A.Y.; Sulh, H.B.; Der Kaloustian, V.M.","year":"1984","unstructured":"Mikati MA, Barakat AY, Sulh HB, Der Kaloustian VM. Renal tubular insufficiency, cholestatic jaundice and multiple congenital anomalies - a new multisystem syndrome. Helv Paediatr Acta 1984;39:463-71.","journal-title":"Helv Paediatr Acta"},{"key":"ref_3","article-title":"AchmoleJstMateidc pigmentary liver disease Genet 1992; 37: 237-40. and renal dysfunction","author":"M, Di Rocco; E, Reboa; A, Barabino","unstructured":"Di Rocco M, Reboa E, Barabino A, et al. Arthrogryposis, AchmoleJstMateidc pigmentary liver disease Genet 1992;37:237-40. and renal dysfunction."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.1.62","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T18:18:24Z","timestamp":1760725104000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.1.62"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,1]]},"references-count":3,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1994,1,1]]},"published-print":{"date-parts":[[1994,1]]}},"alternative-id":["10.1136\/jmg.31.1.62"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.1.62","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,1]]}}}