{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,5]],"date-time":"2026-05-05T17:21:45Z","timestamp":1778001705037,"version":"3.51.4"},"reference-count":8,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2017,6,26]],"date-time":"2017-06-26T00:00:00Z","timestamp":1498435200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Reports"],"abstract":"<jats:p>We report a case of a premature neonate girl with scalp and skull defects and brachydactyly of the feet consistent with an Adams-Oliver syndrome (AOS). The patient had central nervous system abnormalities, such as periventricular calcifications, hypoplastic corpus callosum, and bilateral hemispheric corticosubcortical hemorrhagic lesions. A muscular ventricular septal defect and a portosystemic shunt were diagnosed. To our knowledge, this is the first report of congenital supratentorial grey-white matter junction lesions without dural sinus thrombosis in association with AOS. Some of these lesions may be secondary to birth trauma (given the skull defect) whilst others have a watershed location, perhaps as further evidence of vascular disruption and decreased perfusion during critical periods of fetal brain development as the previously proposed pathogenesis of this syndrome.<\/jats:p>","DOI":"10.4081\/pr.2017.7211","type":"journal-article","created":{"date-parts":[[2017,6,27]],"date-time":"2017-06-27T06:27:22Z","timestamp":1498544842000},"page":"7211","source":"Crossref","is-referenced-by-count":9,"title":["Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt"],"prefix":"10.3390","volume":"9","author":[{"given":"Carlos","family":"P\u00e9rez-Garc\u00eda","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yolanda Ru\u00edz","family":"Mart\u00edn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandra Aguado","family":"del Hoyo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos Mar\u00edn","family":"Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Minia Campos","family":"Dom\u00ednguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2017,6,26]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1093\/oxfordjournals.jhered.a105415","article-title":"Hereditary deformities in man: due to arrested development","volume":"36","author":"Adams","year":"1945","journal-title":"J Hered"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"e207","DOI":"10.1016\/j.jhsa.2016.04.014","article-title":"Distal limb defects and aplasia cutis: Adams-Oliver syndrome","volume":"41","author":"Renfree","year":"2016","journal-title":"J Hand Surg Am"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1002\/ajmg.a.30210","article-title":"A case of Adams-Oliver syndrome with associated brain and pulmonary involvement: Further evidence of vascular pathology?","volume":"130A","author":"Piazza","year":"2004","journal-title":"Am J Med GenetPart A"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1002\/1096-8628(20001023)94:5<400::AID-AJMG11>3.0.CO;2-Q","article-title":"Transverse limb defects associated with aorto-pulmonary vascular abnormalities: vascular disruption sequence or atypical presentation of Adams-Oliver syndrome?","volume":"94","author":"Al-Sann\u00e0a","year":"2000","journal-title":"Am J Med Genet"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1148\/rg.243035046","article-title":"Congenital hepatic shunts","volume":"24","author":"Gallego","year":"2004","journal-title":"Radiographics"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1016\/j.ejmg.2009.04.005","article-title":"Aplasia cutis congenita, terminal limb defects and periventricular leukomalacia in one sibling with minor findings in the other-probable autosomal recessive Adams-Oliver Syndrome","volume":"52","author":"Balasubramanian","year":"2009","journal-title":"Eur J Med Genet"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"83","DOI":"10.12659\/PJR.889531","article-title":"Adams Oliver syndrome: Description of a new phenotype with cerebellar abnormalities in a family","volume":"78","author":"D'Amico","year":"2013","journal-title":"Pol J Radiol"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.ajhg.2014.07.011","article-title":"Mutations in NOTCH1 cause Adams-Oliver syndrome","volume":"95","author":"Stittrich","year":"2014","journal-title":"Am J Hum 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Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.pagepress.org\/journals\/index.php\/pr\/article\/viewFile\/7211\/6917","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.pagepress.org\/journals\/index.php\/pr\/article\/viewFile\/7211\/6973","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.mdpi.com\/2036-7503\/9\/2\/7211\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,10]],"date-time":"2022-02-10T03:58:32Z","timestamp":1644465512000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2036-7503\/9\/2\/7211"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6,26]]},"references-count":8,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2017,6]]}},"alternative-id":["pr.2017.7211"],"URL":"https:\/\/doi.org\/10.4081\/pr.2017.7211","relation":{},"ISSN":["2036-7503"],"issn-type":[{"value":"2036-7503","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,6,26]]}}}