{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T19:44:50Z","timestamp":1698435890269},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4436,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on 3 unrelated patients with a syndrome of sensorineural deafness (3\/3), midface hypoplasia (3\/3), disproportionate shortness with short limbs (3\/3), cleft palate or bifid uvula (3\/3), and lack of high myopia (3\/3). This brings the number of reported patients with this condition to 11. Different names such as oto\u2010spondylo\u2010megaepiphyseal dysplasia (OSMED) or the Insley\u2010Astley syndrome have been used. We propose the name \u201csyndrome of bone dysplasia, midface hypoplasia, and deafness\u201d which lists the 3 main manifestations of the condition. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460224","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:50:25Z","timestamp":1118508625000},"page":"223-227","source":"Crossref","is-referenced-by-count":13,"title":["Bone dysplasia, midface hypoplasia, and deafness: Three new patients and review of the literature"],"prefix":"10.1002","volume":"46","author":[{"given":"Helena","family":"K\u00e4\u00e4ri\u00e4inen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret","family":"Barrow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raoul","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"361","article-title":"Oto\u2010spondylo\u2010megaepiphyseal dysplasia (OSMED)","volume":"37","author":"Giedion A","year":"1982","journal-title":"Helv Pediatr Acta"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80229-X"},{"key":"e_1_2_1_4_1","first-page":"212","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1990"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1259\/0007-1285-47-557-244"},{"key":"e_1_2_1_6_1","first-page":"155","article-title":"Otospondylo\u2010megaepiphyseal dysplasia (OSMED): Differential diagnosis and report of a new case","volume":"6","author":"Johnston KM","year":"1987","journal-title":"Proc Greenwood Center"},{"key":"e_1_2_1_7_1","first-page":"1096","volume-title":"Mendelian Inheritance in Man. 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The 7th International Congress of Human Genetics Berlin September 22\u201326 1986 p.259(Abstr.)."},{"key":"e_1_2_1_11_1","volume-title":"Kniest disease","author":"Spranger J","year":"1974"},{"issue":"12","key":"e_1_2_1_11_2","first-page":"50","journal-title":"BD:OAS"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.2.119"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320160209"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320460224","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320460224","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T04:27:18Z","timestamp":1698208038000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320460224"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,4,15]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1993,4,15]]}},"alternative-id":["10.1002\/ajmg.1320460224"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320460224","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,4,15]]}}}