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We now report abnormalities of steroid biogenesis in seven of 16 patients with an Antley-Bixler phenotype. Additionally, we identify <jats:italic>FGFR2<\/jats:italic> mutations in seven of these 16 patients, including one patient with abnormal steroidogenesis. These findings, suggesting that some cases of Antley-Bixler syndrome are the outcome of two distinct genetic events, allow a hypothesis to be formulated under which we may explain all the differing and seemingly contradictory circumstances in which the Antley-Bixler phenotype has been recognised.<\/jats:p>","DOI":"10.1136\/jmg.37.1.26","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:37:59Z","timestamp":1027751879000},"page":"26-32","source":"Crossref","is-referenced-by-count":96,"title":["Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?"],"prefix":"10.1136","volume":"37","author":[{"given":"William","family":"Reardon","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John W","family":"Honour","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Hindmarsh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debipriya","family":"Das","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gill","family":"Rumsby","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Nelson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sue","family":"Malcolm","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lesley","family":"Ad\u00e8s","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Sillence","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dhavendra","family":"Kumar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Celia","family":"DeLozier-Blanchet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shane","family":"McKee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thaddeus","family":"Kelly","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wallace L","family":"McKeehan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Baraitser","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robin M","family":"Winter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2000,1,1]]},"reference":[{"issue":"2","key":"2025101711221075000_37.1.26.1","first-page":"397","article-title":"Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.","volume":"XI","author":"Antley","year":"1975","journal-title":"Birth Defects"},{"key":"2025101711221075000_37.1.26.2","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":"2025101711221075000_37.1.26.3","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990305)83:1<64::AID-AJMG11>3.0.CO;2-D"},{"key":"2025101711221075000_37.1.26.4","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990305)83:1<65::AID-AJMG12>3.0.CO;2-7"},{"key":"2025101711221075000_37.1.26.5","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990305)83:1<67::AID-AJMG13>3.0.CO;2-Z"},{"key":"2025101711221075000_37.1.26.6","first-page":"241","article-title":"Antley-Bixler syndrome: case report and review of the literature.","volume":"6","author":"Poddevin","year":"1995","journal-title":"Genet Couns"},{"key":"2025101711221075000_37.1.26.7","doi-asserted-by":"crossref","unstructured":"McKusick VA (1998) Mendelian inheritance in man. 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