{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T20:21:46Z","timestamp":1700166106305},"reference-count":3,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,5,18]],"date-time":"2004-05-18T00:00:00Z","timestamp":1084838400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,7,30]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on the sixth case and first fetal description of oto\u2010onycho\u2010peroneal syndrome (MIM 259780). This entity consists in the association of ear anomalies (\u2010oto), hypoplastic nails (\u2010onycho), hypoplastic or absent fibulae (\u2010peroneal), and shoulder anomalies. Described for the first time by Leiba et al. [1975: Birth Defects 11:67\u201373] in a male patient, coined by Pfeiffer [1982: Eur J Pediatr 138:317\u2013320], and confirmed by Devriendt et al. [1998: J Med Genet 35:508\u2013509] this condition is most likely autosomal recessive, given the occurrence in sibs of both sexes with normal parents. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30119","type":"journal-article","created":{"date-parts":[[2004,5,18]],"date-time":"2004-05-18T23:01:26Z","timestamp":1084921286000},"page":"316-319","source":"Crossref","is-referenced-by-count":3,"title":["Oto\u2010onycho\u2010peroneal syndrome: Further delineation and first fetal report"],"prefix":"10.1002","volume":"128A","author":[{"given":"Bettina","family":"Bessieres\u2010Grattagliano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Genevieve","family":"Brodaty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jelena","family":"Martinovic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Fallet\u2010Bianco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Lise","family":"Delezoide","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernand","family":"Daffos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,5,18]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.6.508"},{"key":"e_1_2_4_3_1","first-page":"67","article-title":"Oculootonasal malformations associated with osteoonychodysplasia","volume":"11","author":"Leiba S","year":"1975","journal-title":"Birth Defects"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442507"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30119","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30119","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T16:57:32Z","timestamp":1697648252000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30119"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,5,18]]},"references-count":3,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,7,30]]}},"alternative-id":["10.1002\/ajmg.a.30119"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30119","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,5,18]]}}}