{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,16]],"date-time":"2026-01-16T00:41:33Z","timestamp":1768524093400,"version":"3.49.0"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T00:00:00Z","timestamp":1759017600000},"content-version":"vor","delay-in-days":27,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Background: Adams-Oliver syndrome (AOS) is a rare congenital disorder characterized by scalp and limb malformations, including scalp aplasia and digital anomalies such as brachydactyly or oligodactyly. While typically inherited through either autosomal dominant or recessive patterns, sporadic cases have also been documented. Case Presentation: A male neonate, born to consanguineous parents, presented with classic features of AOS including aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD). The mother reported antidepressant use during the first trimester. Prenatal ultrasound findings were suggestive of AOS, which was confirmed postnatally by a large vertex scalp defect with absent skin and bone along with bilateral brachysyndactyly. All biochemical tests were normal, with no evidence of cardiovascular or neurological abnormalities. Conclusions: This case highlights the critical importance of early prenatal diagnosis for severe AOS through meticulous sagittal plane ultrasonography to detect vertex bone ossification defects. Given the poor postnatal prognosis, early recognition is essential to improve outcomes through timely intervention.<\/jats:p>","DOI":"10.1093\/omcr\/omaf176","type":"journal-article","created":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T11:37:09Z","timestamp":1754393829000},"source":"Crossref","is-referenced-by-count":2,"title":["Adams-Oliver syndrome: an unusual congenital disorder"],"prefix":"10.1093","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0199-5666","authenticated-orcid":false,"given":"Leen","family":"Jarjanazi","sequence":"first","affiliation":[{"name":"Aleppo University Obstetrics and Gynecology Department- Faculty of Medicine , Aleppo ,","place":["Syria"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Kebbeh","sequence":"additional","affiliation":[{"name":"Aleppo University Obstetrics and Gynecology Department- Faculty of Medicine , Aleppo ,","place":["Syria"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eymar","family":"Alam","sequence":"additional","affiliation":[{"name":"Aleppo University Obstetrics and Gynecology Department- Faculty of Medicine , Aleppo ,","place":["Syria"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qamar","family":"Saado","sequence":"additional","affiliation":[{"name":"Aleppo University Obstetrics and Gynecology Department- Faculty of Medicine , Aleppo ,","place":["Syria"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mulham","family":"Jarjanazi","sequence":"additional","affiliation":[{"name":"Pediatric Surgery Department- Aleppo University Hospital , Aleppo ,","place":["Syria"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lama","family":"Alkadi","sequence":"additional","affiliation":[{"name":"Aleppo University Hospital , Aleppo ,","place":["Syria"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aladdin","family":"Etr","sequence":"additional","affiliation":[{"name":"Aleppo University Hospital , Aleppo ,","place":["Syria"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taoufik Ghazal","family":"Aswad","sequence":"additional","affiliation":[{"name":"Aleppo University Hospital , Aleppo ,","place":["Syria"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamdi","family":"Nawfal","sequence":"additional","affiliation":[{"name":"Obstetrics and Gynecology - Embryology and Genetics Department - , Aleppo ,","place":["Syria"]},{"name":"Aleppo University Faculty of Medicine - , Aleppo ,","place":["Syria"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,9,28]]},"reference":[{"key":"2025092804414689500_ref1","doi-asserted-by":"publisher","first-page":"475","DOI":"10.1016\/j.ajhg.2015.07.015","article-title":"Heterozygous loss-of-function mutations in DLL4 cause Adams-Oliver syndrome","volume":"97","author":"Meester","year":"2015","journal-title":"Am J Hum Genet"},{"key":"2025092804414689500_ref2","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1186\/s12871-021-01339-0","article-title":"Case report and review of literature of a rare congenital disorder: Adams-Oliver syndrome","volume":"21","author":"Suarez","year":"2021","journal-title":"BMC Anesthesiol"},{"key":"2025092804414689500_ref3","doi-asserted-by":"publisher","volume-title":"Medical Journal of Dr D Y Patil Vidyapeeth","DOI":"10.4103\/mjdrdypu.mjdrdypu_1003_24"},{"key":"2025092804414689500_ref4","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Lehman","year":"2016"},{"key":"2025092804414689500_ref5","doi-asserted-by":"publisher","first-page":"7211","DOI":"10.4081\/pr.2017.7211","article-title":"Adams-Oliver syndrome with unusual central nervous system findings and an extrahepatic portosystemic shunt","volume":"9","author":"P\u00e9rez-Garc\u00eda","year":"2017","journal-title":"Pediatr Rep"},{"key":"2025092804414689500_ref6","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1002\/1096-8628(20000814)93:4&lt;328::aid-ajmg13&gt;3.0.co;2-0","article-title":"Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome","volume":"93","author":"Amor","year":"2000","journal-title":"Am J Med Genet"},{"key":"2025092804414689500_ref7","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1002\/(sici)1096-8628(19990903)86:1&lt;15::aid-ajmg4&gt;3.0.co;2-i","article-title":"Cerebral cortical dysplasia and digital constriction rings in Adams-Oliver syndrome","volume":"86","author":"Savarirayan","year":"1999","journal-title":"Am J Med Genet"},{"key":"2025092804414689500_ref8","doi-asserted-by":"publisher","first-page":"1109","DOI":"10.1007\/s00381-018-3810-1","article-title":"Adams Oliver syndrome with cerebellar cortical dysplasia","volume":"34","author":"Tan","year":"2018","journal-title":"Childs Nerv Syst"},{"key":"2025092804414689500_ref9","doi-asserted-by":"publisher","volume-title":"Archives of Plastic Surgery","DOI":"10.1055\/s-0042-1751107"},{"key":"2025092804414689500_ref10","doi-asserted-by":"publisher","volume-title":"The Journal of Craniofacial Surgery","DOI":"10.1097\/00001665-200111000-00014"},{"key":"2025092804414689500_ref11","doi-asserted-by":"publisher","first-page":"422","DOI":"10.4103\/idoj.idoj_330_22","article-title":"Adams-Oliver syndrome - 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