{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T16:25:24Z","timestamp":1787934324937,"version":"build-2784847793"},"reference-count":26,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,9]]},"DOI":"10.1097\/scs.0b013e3181ec6afe","type":"journal-article","created":{"date-parts":[[2010,9,3]],"date-time":"2010-09-03T19:23:43Z","timestamp":1283541823000},"page":"1560-1564","source":"Crossref","is-referenced-by-count":36,"title":["Spectrum of Antley-Bixler Syndrome"],"prefix":"10.1097","volume":"21","author":[{"given":"Karen L.","family":"McGlaughlin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Witherow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"Dunaway","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David J.","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J.","family":"Anderson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-55-20210208","first-page":"397","article-title":"Trapezoidocephaly, midface hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.","volume":"11","author":"Antley","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"R2-55-20210208","first-page":"169","article-title":"L'acrocephalosyndactyly. Apropos of a case with multiple synostoses.","volume":"29","author":"Lacheretz","year":"1974","journal-title":"Pediatrie"},{"key":"R3-55-20210208","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1002\/(SICI)1096-8628(19980518)77:3<219::AID-AJMG6>3.0.CO;2-K","article-title":"FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome.","volume":"77","author":"Chun","year":"1998","journal-title":"Am J Med Genet"},{"key":"R4-55-20210208","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/S0022-3476(82)80117-0","article-title":"The Antley-Bixler syndrome.","volume":"101","author":"Robinson","year":"1982","journal-title":"J Pediatr"},{"key":"R5-55-20210208","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1007\/s003810050082","article-title":"Antley-Bixler syndrome. Description of two new cases and a review of the literature.","volume":"13","author":"Bottero","year":"1997","journal-title":"Childs Nerv Syst"},{"key":"R6-55-20210208","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1159\/000055989","article-title":"Antley-Bixler syndrome, description of two new cases and review of the literature.","volume":"34","author":"Lee","year":"2001","journal-title":"Pediatr Neurosurg"},{"key":"R7-55-20210208","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1097\/00019605-199701000-00011","article-title":"Antley-Bixler syndrome: case report and review of the literature.","volume":"6","author":"Crisponi","year":"1997","journal-title":"Clin Dysmorphol"},{"key":"R8-55-20210208","first-page":"139","article-title":"Musculoskeletal manifestations of the Antley-Bixler syndrome.","volume":"8","author":"Rumball","year":"1999","journal-title":"J Pediatr Orthop B"},{"key":"R9-55-20210208","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1007\/s00247-003-1066-7","article-title":"Antley-Bixler syndrome with radioulnar synostosis.","volume":"34","author":"Hurley","year":"2004","journal-title":"Pediatr Radiol"},{"key":"R10-55-20210208","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/ajmg.1320070322","article-title":"The syndrome of multisynostotic osteodysgenesis with long-bone fractures.","volume":"7","author":"DeLozier","year":"1980","journal-title":"Am J Med Genet"},{"key":"R11-55-20210208","first-page":"252","article-title":"The Antley-Bixler syndrome: two new cases.","volume":"47","author":"Hosalkar","year":"2001","journal-title":"J Postgrad Med"},{"key":"R12-55-20210208","doi-asserted-by":"crossref","first-page":"1454","DOI":"10.1097\/01.PRS.0000049452.18798.63","article-title":"Antley-Bixler syndrome: correction of facial deformities and long-term survival.","volume":"111","author":"Bradley","year":"2003","journal-title":"Plast Reconstr Surg"},{"key":"R13-55-20210208","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1038\/ng1300","article-title":"Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.","volume":"36","author":"Fluck","year":"2004","journal-title":"Nat Genet"},{"key":"R14-55-20210208","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1136\/jmg.37.1.26","article-title":"Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?","volume":"37","author":"Reardon","year":"2000","journal-title":"J Med Genet"},{"key":"R15-55-20210208","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1210\/jc.2004-0810","article-title":"Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and\/or impaired steroidogenesis: molecular and clinical studies in 10 patients.","volume":"90","author":"Fukami","year":"2005","journal-title":"J Clin Endocrinol Metab"},{"key":"R16-55-20210208","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1086\/429417","article-title":"Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.","volume":"76","author":"Huang","year":"2005","journal-title":"Am J Hum Genet"},{"key":"R17-55-20210208","doi-asserted-by":"crossref","first-page":"87","DOI":"10.2209\/tdcpublication.45.87","article-title":"A case of Antley-Bixler syndrome with severe dental C1 III malocclusion.","volume":"45","author":"Tsuchiya","year":"2004","journal-title":"Bull Tokyo Dent Coll"},{"key":"R18-55-20210208","doi-asserted-by":"crossref","first-page":"737","DOI":"10.1111\/j.1651-2227.2000.tb00376.x","article-title":"Antley-Bixler syndrome associated with Arnold-Chiari malformation.","volume":"89","author":"Chang","year":"2000","journal-title":"Acta Pediatr"},{"key":"R19-55-20210208","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1007\/BF01267660","article-title":"Antley-Bixler syndrome: description of two patients.","volume":"20","author":"Bianchi","year":"1991","journal-title":"Skeletal Radiol"},{"key":"R20-55-20210208","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1097\/00001665-199805000-00002","article-title":"The elbow in syndromic craniosynostosis.","volume":"9","author":"Anderson","year":"1998","journal-title":"J Craniofac Surg"},{"key":"R21-55-20210208","first-page":"110","article-title":"Congenital deformities of the spine: an analysis of the spines of 700 children.","volume":"17","author":"Shands","year":"1956","journal-title":"Bull Hosp Joint Dis"},{"key":"R22-55-20210208","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1159\/000121091","article-title":"Congenital cervical spinal fusion: a study in Apert syndrome.","volume":"25","author":"Thompson","year":"1996","journal-title":"Pediatr Neurosurg"},{"key":"R23-55-20210208","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1002\/ajmg.1320430411","article-title":"Cervical spine in the Apert syndrome.","volume":"43","author":"Kreiborg","year":"1992","journal-title":"Am J Med Genet"},{"key":"R24-55-20210208","first-page":"328","article-title":"Cervical spine anomalies in the craniosynostosis syndromes.","volume":"24","author":"Hemmer","year":"1987","journal-title":"Cleft Palate J"},{"key":"R25-55-20210208","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/S0094-1298(20)30823-3","article-title":"Dental, orthodontic, and oral\/maxillofacial evaluation and treatment in Apert syndrome.","volume":"18","author":"Ferraro","year":"1991","journal-title":"Clin Plast Surg"},{"key":"R27-55-20210208","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1097\/00001665-199607000-00005","article-title":"Cervical spine in Pfeiffer's syndrome.","volume":"7","author":"Anderson","year":"1996","journal-title":"J Craniofac Surg"}],"container-title":["Journal of Craniofacial Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/SCS.0b013e3181ec6afe","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,14]],"date-time":"2021-05-14T06:57:02Z","timestamp":1620975422000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00001665-201009000-00055"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9]]},"references-count":26,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2010]]}},"URL":"https:\/\/doi.org\/10.1097\/scs.0b013e3181ec6afe","relation":{},"ISSN":["1049-2275"],"issn-type":[{"value":"1049-2275","type":"print"}],"subject":[],"published":{"date-parts":[[2010,9]]}}}