{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T12:57:10Z","timestamp":1790081830756,"version":"4.0.1"},"reference-count":48,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":6698,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Here we describe the phenotypic characteristics of a single craniofacial clinic population of 294 individuals affected with Oculoauriculovertebral dysplasia (OAV) and variants. To our knowledge, this is the largest population so described in the literature.<\/jats:p>\n                  <jats:p>The study population was divided into five subgroups based on the presence of combinations of minimal diagnostic criteria: microtia, mandibular hypoplasia, anomalies of the cervical spine and\/or epibulbar or lipodermoids. The following data were recorded: (1) sex (M:F 191:103); (2) race (78% Caucasian); (3) the presence of unilateral or bilateral microtia (193 unilateral, 98 bilateral); (4) the presence of symmetric microtia in bilateral cases (34\/98); (5) the presence of mandibular hypoplasia ipsilateral or contralateral to the microtic ear or most severely microtic ear in bilateral cases (135\/137 were ipsilateral in unilateral cases, 55\/62 were ipsilateral in bilateral cases); (6) the number of individuals with no Other congenital anomaly in addition to the minimal diagnostic criteria (154\/294), with only one other congenital anomaly (51\/294), and with two or more other congenital anomalies (89\/294); and 7) the type of other congenital anomalies. Finally, we compared our results with other studies.<\/jats:p>\n                  <jats:p>Findings from our study include: (1) mandibular asymmetry should be expected in patients with unilateral or bilateral microtial; (2) bilateral involvement is frequent in patients with microtia; (3) other malformations are seen frequently in all subgroups; (4) anomalies of the cervical spine are more likely to be associated with other anomalies; and (5) other malformations are seen in all systems and should be searched for to provide optimal management.<\/jats:p>","DOI":"10.1002\/ajmg.1320260215","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T22:46:36Z","timestamp":1118529996000},"page":"361-375","source":"Crossref","is-referenced-by-count":304,"title":["Oculoauriculovertebral dysplasia and variants: Phenotypic characteristics of 294 patients"],"prefix":"10.1002","volume":"26","author":[{"given":"Beverly R.","family":"Rollnick","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celia I.","family":"Kaye","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Konrad","family":"Nagatoshi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walter","family":"Hauck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice O.","family":"Martin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"57","article-title":"Goldcnhar's syndrome associated with cardiac malformations. Helv\u2010Paedia","volume":"30","author":"Abe K","year":"1975","journal-title":"Acta"},{"key":"e_1_2_1_3_1","first-page":"68","article-title":"Congenital facial neuropathy in oculoauriculovetebral dsyplasia\u2010hernifacial microsomia (Goldenhar\u2010Gorlin syndrome)","volume":"41","author":"Aleksic S","year":"1976","journal-title":"Bull LA Neurol Soc"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(73)91020-9"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(68)90016-9"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.55.3.145"},{"key":"e_1_2_1_7_1","volume-title":"Unilateral variants with anophthalmia","author":"Cohen MM","year":"1971"},{"issue":"7","key":"e_1_2_1_7_2","author":"the National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_8_1","first-page":"103","article-title":"On hemifacial microsomia. The first and second branchial arch syndrome","volume":"51","author":"Converse J","year":"1973","journal-title":"Plast Reconstr Surg"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-197410000-00005"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1148\/91.2.254"},{"key":"e_1_2_1_11_1","first-page":"136","article-title":"Goldenhar's syndrome","volume":"132","author":"Feingold M","year":"1978","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-0503(82)80042-8"},{"key":"e_1_2_1_13_1","first-page":"167","article-title":"Craniovertebral malformations in hemifacial microsomia","volume":"1","author":"Figueroa A","year":"1985","journal-title":"J Craniofac Genet Dev Biol Supp"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80368-9"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(63)80233-4"},{"key":"e_1_2_1_16_1","first-page":"546","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1976"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-196511000-00001"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80349-5"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1970.00990040429005"},{"key":"e_1_2_1_20_1","first-page":"41","article-title":"Oculoauriculovertcbral dysplasia (Goldenhar's syndrome)","volume":"24","author":"Kallor AD","year":"1979","journal-title":"Cutis"},{"key":"e_1_2_1_21_1","first-page":"267","article-title":"Dental maturation in hemifacial microsomia","volume":"1","author":"Loevy HT","year":"1985","journal-title":"J Craniofac Genet Dcv Biol Supp"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-197710000-00017"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(71)90862-2"},{"key":"e_1_2_1_24_1","volume-title":"The Etiology of External Ear Malformations and Its Relation to Abnormalities of the Middle Ear. Inner Ear, and Other Organ Systems","author":"Melnick M","year":"1980"},{"issue":"4","key":"e_1_2_1_24_2","first-page":"303","author":"the National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_25_1","first-page":"347","article-title":"Goldenhar's syndrome associated with cranial and neurological malfor\u2010mations","volume":"9","author":"Michaud C","year":"1974","journal-title":"Can J Ophthalmol"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1001\/archotol.1976.00780100099016"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-0503(74)80019-6"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.7.2.185"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100095888"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02426976"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150207"},{"key":"e_1_2_1_32_1","first-page":"287","article-title":"Hemifacial microsomia and the branchio\u2010oto\u2010renal syndrome","volume":"1","author":"Rollnick B","year":"1985","journal-title":"J Craniofac Genet Dev Biol Supp"},{"key":"e_1_2_1_33_1","volume-title":"Hemifacial micro\u2010somia","author":"Ross RB","year":"1975"},{"issue":"7","key":"e_1_2_1_33_2","first-page":"51","author":"the National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_34_1","unstructured":"RussellL WeaverDD BullMJ(1979):Caudal regression syndrome in association with Goldenhar syndrome. Birth Defects Abstracts 201A."},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80547-1"},{"key":"e_1_2_1_36_1","volume-title":"The Goldenhar syndrome: A natural history","author":"Shokeir MHK","year":"1977"},{"issue":"3","key":"e_1_2_1_36_2","first-page":"67","author":"the National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_37_1","first-page":"497","volume-title":"Recognizable Patterns of Human Malforma\u2010tion","author":"Smith DW","year":"1982"},{"key":"e_1_2_1_38_1","unstructured":"StarzakR FujimotoA(1979):Unilateral anophthalmia in hemifacial microsomia. Birth Defects Abstracts 218A."},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(66)92193-3"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(68)91538-9"},{"key":"e_1_2_1_41_1","first-page":"39","volume-title":"Treatment of Hemifacial Microsomia","author":"Tenconi R","year":"1983"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00496092"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215100094846"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140306"},{"key":"e_1_2_1_45_1","unstructured":"WilsonGN SchmickelRD(1980):Goldenhar syndrome: More evidence for variability with an emphasis on neurologic features. Birth Defects Abstracts 207A."}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320260215","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320260215","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T01:09:37Z","timestamp":1697850577000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320260215"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,2]]},"references-count":48,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1987,2]]}},"alternative-id":["10.1002\/ajmg.1320260215"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320260215","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,2]]}}}