{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T20:53:04Z","timestamp":1789764784040,"version":"4.0.1"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2001,11,28]],"date-time":"2001-11-28T00:00:00Z","timestamp":1006905600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a nine\u2010month\u2010old Caucasian male with features seen in oculoauriculovertebral spectrum (OAVS) and frontonasal dysplasia sequence (FND) born to normal, non\u2010consanguineous parents and review the literature. His malformations included a left pre\u2010auricular skin tag, severely hypoplastic right pinna without an external canal, severely everted and hypoplastic left upper eyelid, bilateral cleft lip and palate, bifid broad nasal tip, ocular hypertelorism, micrognathia, hypoplastic mandible, an extra cervical rib on the left, hemivertebrae at T3\u20134, agenesis of the posterior corpus callosum with a midline lipoma, and an extra renal pelvis. This constellation of anomalies is consistent with the diagnosis of oculoauriculofrontonasal syndrome (OAFNS) which appears to be a distinct condition from either OAVS or FND but with overlapping features. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10120","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T16:35:44Z","timestamp":1030293344000},"page":"169-173","source":"Crossref","is-referenced-by-count":20,"title":["Oculoauriculofrontonasal syndrome (OAFNS) in a nine\u2010month\u2010old male"],"prefix":"10.1002","volume":"107","author":[{"given":"Holly A.","family":"Ishmael","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael L.","family":"Begleiter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth J.","family":"Regier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Merlin G.","family":"Butler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001,11,28]]},"reference":[{"key":"e_1_2_5_2_1","unstructured":"CareyJC YongSL.1981.Frontonasal dysplasia and the Goldenhar syndrome: the oculo\u2010auriculo\u2010frontonasal syndrome. 1981 conference on malformations and morphogenesis (March of Dimes) Dartmouth College Hanover New Hampshire."},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1597\/1545-1569(1996)033<0519:FMATOS>2.3.CO;2"},{"key":"e_1_2_5_4_1","doi-asserted-by":"crossref","first-page":"417","DOI":"10.4067\/S0370-41061983000600006","article-title":"Sindrome de fisura media del rostro","volume":"54","author":"Castillo S","year":"1983","journal-title":"Rev Chil Ped"},{"issue":"7","key":"e_1_2_5_5_1","first-page":"117","article-title":"Frontonasal dysplasia (median cleft face syndrome): comments on etiology and pathogenesis","volume":"7","author":"Cohen MM","year":"1971","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_5_6_1","first-page":"276","article-title":"Oculoauriculovertebral spectrum: an updated critique","volume":"26","author":"Cohen MM","year":"1989","journal-title":"Cleft Palate J"},{"issue":"5","key":"e_1_2_5_7_1","first-page":"182","article-title":"Unique subpopulations in the diagnostic category of frontonasal dysplasia","volume":"19","author":"Day D","year":"1983","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_5_8_1","first-page":"545","article-title":"Das Goldenhar syndrom und kiefemissbildungen","volume":"24","author":"Fleischer\u2010Peters VA","year":"1969","journal-title":"Dtsch Zahnarzlt Z"},{"key":"e_1_2_5_9_1","first-page":"351","article-title":"La dysplasie fronto\u2010nasale (A propos de quatre observations)","volume":"31","author":"Fontaine G","year":"1983","journal-title":"J Genet Hum"},{"key":"e_1_2_5_10_1","first-page":"183","article-title":"A new syndrome of oculoauriculovertebral dysplasia and midline craniofacial defect: the oculoauriculofrontonasal dysplasia. 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