{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T10:24:22Z","timestamp":1792146262414,"version":"4.4.0"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2012,2,3]],"date-time":"2012-02-03T00:00:00Z","timestamp":1328227200000},"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":[[2012,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Adams\u2013Oliver syndrome (AOS) is a rare condition defined by combination of cutis aplasia and transverse limb abnormalities. Some authors have described a possible association between this syndrome and portal hypertension (PH) due to hepatoportal sclerosis (HPS). We present a boy with AOS who developed a progressive splenomegaly and hypersplenism at the age of 2 months, and was admitted for acute gastrointestinal bleeding (GI) at the age of 9 months. Subsequently, we documented an extrahepatic portal vein obstruction and esophageal varices. After several episodes of cataclysmic upper GI bleeding a mesentero\u2010portal shunt (MPS) was performed at 10 months. The shunt thrombosed, and after three failed attempts of thrombectomy, it was removed. One month later a splenorenal shunt was performed, and this closed spontaneously by 3 years. The patient suffered from ischemic stroke after placing the first shunt, and has spastic diplegia, left frontal lobe epilepsy, hyperactivity and attention deficit disorder, and severe psychomotor delay. At 11 years and he presented with chronic liver failure and hyperammonemia and coagulopathy. We hypothesize that there may be an early embryonic vascular abnormality (vascular disruption) that may explain these vascular phenomena. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34435","type":"journal-article","created":{"date-parts":[[2012,2,3]],"date-time":"2012-02-03T18:35:18Z","timestamp":1328294118000},"page":"648-651","source":"Crossref","is-referenced-by-count":4,"title":["Adams\u2013Oliver syndrome and portal hypertension: Fortuitous association or common mechanism?"],"prefix":"10.1002","volume":"158A","author":[{"given":"Gisela","family":"Silva","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandre","family":"Braga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Banquart","family":"Leit\u00e3o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abel","family":"Mesquita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lio","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos","family":"Duarte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9","family":"Barbot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ermelinda Santos","family":"Silva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,2,3]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a105415"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.04.005"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11239-008-0244-8"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2006.05.066"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30724"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v13.i13.1906"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310112"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30828"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31192"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-23206"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2009.08.019"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.04.013"},{"key":"e_1_2_4_14_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_4_15_1","first-page":"48","article-title":"Diagnosis and therapeutic management of hepatoportal sclerosis 2009","volume":"79","author":"Valla DC","journal-title":"Gazeta M\u00e9dica da Ba\u00eda"},{"key":"e_1_2_4_16_1","first-page":"457","article-title":"Clinical and molecular analysis of nine families with Adams\u2010Oliver syndrome","volume":"11","author":"Verdyck P","year":"2003","journal-title":"Eur J Med Genet"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400315"},{"key":"e_1_2_4_18_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.34435","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34435","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,21]],"date-time":"2023-11-21T12:02:02Z","timestamp":1700568122000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34435"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,2,3]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2012,3]]}},"alternative-id":["10.1002\/ajmg.a.34435"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34435","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,2,3]]}}}