{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T06:51:35Z","timestamp":1760079095932},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5968,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a mother and son with high forehead; elongated and flattened face; arched, sparse eyebrows; short palpebral fissures; telecanthus; long nose and hypoplastic nostrils; long philtrum; microstomia; high, narrow palate; nasal speech; chin dimples; and a highly unusual bilateral auricular malformation. Intelligence and hearing are normal, and there is no \u201cwhistling\u201d face or deviation of fingers. Although resembling in some ways the Freeman\u2010Sheldon syndrome, this phenotype most likely represents a new malformation syndrome, either autosomal dominant or X\u2010linked dominant.<\/jats:p>","DOI":"10.1002\/ajmg.1320320209","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:54:16Z","timestamp":1118544856000},"page":"184-186","source":"Crossref","is-referenced-by-count":6,"title":["A new syndrome with distinct facial and auricular malformations and dominant inheritance"],"prefix":"10.1002","volume":"32","author":[{"given":"Venancio","family":"Simosa","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Victor B.","family":"Penchaszadeh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tania","family":"Bustos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1148\/123.3.719"},{"key":"e_1_2_1_3_1","first-page":"223","volume-title":"Birth Defects Compendium, Second Edition","author":"Sedano HO","year":"1979"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1962.00960030056011"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100030429007"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291765"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320320209","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320320209","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T02:48:04Z","timestamp":1697942884000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320320209"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,2]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1989,2]]}},"alternative-id":["10.1002\/ajmg.1320320209"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320320209","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,2]]}}}