{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T10:57:55Z","timestamp":1790247475898,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,4,14]],"date-time":"2005-04-14T00:00:00Z","timestamp":1113436800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Adams\u2013Oliver syndrome (AOS) is characterized by the association of scalp and skull defects and abnormalities of terminal limbs. Congenital heart malformations have also been reported. Hepatoportal sclerosis (HPS) is a rare cause of portal hypertension in children characterized by abnormalities of intra\u2010hepatic portal veins, portal fibrosis, and nodular regeneration. Etiopathogenesis of these rare disorders remains unclear, but the hypothesis of vascular thrombotic mechanism has been suggested. Association of both syndromes has been reported in only one child. We now report on two unrelated children with AOS and HPS, one child harboring a factor V Leiden mutation. We hypothesize that the association of both disorders may not be fortuitous and reinforces the idea that AOS and HPS may share a vascular thrombotic mechanism. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30724","type":"journal-article","created":{"date-parts":[[2005,4,14]],"date-time":"2005-04-14T16:19:56Z","timestamp":1113495596000},"page":"186-189","source":"Crossref","is-referenced-by-count":55,"title":["Adams\u2013Oliver syndrome and hepatoportal sclerosis: Occasional association or common mechanism?"],"prefix":"10.1002","volume":"135A","author":[{"given":"Muriel","family":"Girard","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne","family":"Amiel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monique","family":"Fabre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dani\u00e8le","family":"Pariente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislas","family":"Lyonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Jacquemin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,4,14]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a105415"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1089-3261(05)70264-6"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490408"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0016-5085(92)90119-J"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030109"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3468(81)80682-3"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199710000-00001"},{"key":"e_1_2_5_9_1","first-page":"S2:s122","article-title":"Hepatoportal sclerosis (HPS) in children. A study of 15 patients","volume":"31","author":"De Marsillac M","year":"2000","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-1746.2002.02596.x"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(97)80292-9"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8652(199609)53:1<37::AID-AJH8>3.0.CO;2-6"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0096(199807\/08)26:6<309::AID-JCU5>3.0.CO;2-M"},{"key":"e_1_2_5_14_1","first-page":"121","article-title":"Hepatoportal sclerosis associated with portal vein thrombosis in children: Report of 3 cases","volume":"34","author":"Hessel G","year":"1997","journal-title":"Arq Gastroenterol"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80343-0"},{"key":"e_1_2_5_16_1","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1007\/s00296-002-0259-y","article-title":"Idiopathic portal hypertension in a systemic sclerosis patient heterozygous for factor V Leiden mutation","volume":"23","author":"Ishii M","year":"2003","journal-title":"Rheumatol Int"},{"key":"e_1_2_5_17_1","first-page":"295","article-title":"The concurrence of ring constrictions in Adams\u2013Oliver syndrome: Additional evidence for vascular disruption as common pathogenetic mechanism","volume":"10","author":"Keymolen K","year":"1999","journal-title":"Genet Counsel"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290203"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310112"},{"key":"e_1_2_5_20_1","first-page":"898","article-title":"Hyperplasie nodulaire du foie et syndrome de Turner","volume":"18","author":"Ledinghen V","year":"1994","journal-title":"Gastroenterol Clin Biol"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2003.93"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9610(86)90109-1"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10705"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000658-196510000-00006"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.20026"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990101)82:1<49::AID-AJMG10>3.0.CO;2-M"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290204"},{"key":"e_1_2_5_28_1","doi-asserted-by":"crossref","unstructured":"VerdyckP Holder\u2010EspinasseM HulWV WuytsW.2003.Clinical and molecular analysis of nine families with Adams\u2013Oliver syndrome.","DOI":"10.1038\/sj.ejhg.5200980"},{"key":"e_1_2_5_29_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1995.tb03928.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30724","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30724","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T18:53:32Z","timestamp":1697655212000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30724"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,4,14]]},"references-count":28,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,6]]}},"alternative-id":["10.1002\/ajmg.a.30724"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30724","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,4,14]]}}}