{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T11:42:35Z","timestamp":1792150955927,"version":"4.4.0"},"reference-count":9,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4355,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Frontonasal dysplasia is thought to be a sporadic condition limited to the face and head. We describe a family from the Bahamas in which a mother, 2 of her children, and the mother's brother have variable manifestations of frontonassal dysplasia. The mother has extremely mild expression, but her brother and 2 sons are more severly affected. Besides polydactyly no other birth defects were noted in any other relatives. The pedigree is consistent with autosomal or X\u2010linked dominant inheritance. A description of each patient is presented along with a discussion of the genetic counseling issue and review of the literature for other possibly familial cases of frontonasal dysplasia. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460623","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:59:55Z","timestamp":1118509195000},"page":"712-714","source":"Crossref","is-referenced-by-count":39,"title":["Frontonasal dysplasia in two successive generations"],"prefix":"10.1002","volume":"46","author":[{"given":"Julie S.","family":"Fryburg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John A.","family":"Persing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kant Y.","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb00036.x"},{"issue":"7","key":"e_1_2_1_3_1","first-page":"117","article-title":"Frontonasal dysplasia: comments on etiology and pathogenesis","volume":"7","author":"Cohen MM","year":"1971","journal-title":"BDOAS"},{"issue":"5","key":"e_1_2_1_4_1","first-page":"85","article-title":"Craniofrontonasal dysplasia","volume":"15","author":"Cohen MM","year":"1979","journal-title":"BDOAS"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.17.10.961"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(88)90358-1"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80374-2"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(88)90014-X"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250613"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420080307"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320460623","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320460623","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T04:57:08Z","timestamp":1698296228000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320460623"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,7]]},"references-count":9,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1993,7]]}},"alternative-id":["10.1002\/ajmg.1320460623"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320460623","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,7]]}}}