{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T12:56:58Z","timestamp":1790081818950,"version":"4.0.1"},"reference-count":27,"publisher":"FapUNIFESP (SciELO)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev. Assoc. Med. Bras."],"published-print":{"date-parts":[[2016,6]]},"abstract":"<jats:p>SUMMARY  Objective: To describe the most prominent clinical features of a cohort of patients with oculo-auriculo-vertebral (OAV) dysplasia in Brazil.  Method: A review of medical records of patients with diagnosis of OAV from 1990 to 2010 was performed in a medical genetics center.  Results: 41 patients were included in the study. Their average age at diagnosis was 2y 10mo (34,4\u00b148,8 months) and the female proportion was 53.7%. Mean maternal age at patient\u2019s birth was 28.5y (min: 17, max: 46y) for mothers and 31.4y (min: 21, max: 51y) for fathers. Most patients (97.5%) had auricular involvement, with facial manifestation in 90.2%, spinal in 65.9%, ocular in 53.7%, 36.6% with cardiovascular involvement, 29.3% urogenital, and 17% of the cases with central nervous system (CNS) involvement. The classic OAV triad was present in only 34%. All patients except one had concomitant problems in other organs or systems.  Conclusion: Since the diagnosis of OAV dysplasia relies only on a comprehensive medical evaluation, it is imperative that clinicians be aware of the most common presentation of the syndrome. Once suspected, every patient should undergo a complete medical evaluation of multiple systems including complementary exams. Treatment of these patients is based on surgical correction of malformations and rehabilitation.<\/jats:p>","DOI":"10.1590\/1806-9282.62.03.202","type":"journal-article","created":{"date-parts":[[2016,6,17]],"date-time":"2016-06-17T13:34:11Z","timestamp":1466170451000},"page":"202-206","source":"Crossref","is-referenced-by-count":14,"title":["Clinical description of 41 Brazilian patients with oculo-auriculo-vertebral dysplasia"],"prefix":"10.1590","volume":"62","author":[{"given":"Jos\u00e9 Roberto Mendes","family":"Pegler","sequence":"first","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diogo Cordeiro de Queiroz","family":"Soares","sequence":"additional","affiliation":[{"name":"FMUSP,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caio Robledo D\u2019Angioli Costa","family":"Quaio","sequence":"additional","affiliation":[{"name":"FMUSP,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia","family":"Fernandes","sequence":"additional","affiliation":[{"name":"FMUSP,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luiz Antonio Nunes de","family":"Oliveira","sequence":"additional","affiliation":[{"name":"FMUSP,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel Sayuri","family":"Honjo","sequence":"additional","affiliation":[{"name":"FMUSP,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debora Romeo","family":"Bertola","sequence":"additional","affiliation":[{"name":"FMUSP,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chong Ae","family":"Kim","sequence":"additional","affiliation":[{"name":"FMUSP,  Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"issue":"5","key":"ref1","first-page":"160","article-title":"Oculo-auriculo-vertebral dysplasia: presentation of a case and attempt at organizing the symptomatology","volume":"24","author":"Salvitti C","year":"1978","journal-title":"Rev Ass Med Bras"},{"key":"ref2","series-title":"Syndromes of the head and neck","first-page":"790","volume-title":"Branchial arch and oro-acral disorders","author":"Gorlin RL","year":"2001"},{"issue":"4","key":"ref3","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1016\/0002-9394(66)92193-3","article-title":"The oculoauriculovertebral dysplasia syndrome of Goldenhar","volume":"62","author":"Sugar HS","year":"1966","journal-title":"Am J Ophthalmol"},{"issue":"5","key":"ref4","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1097\/00006534-196511000-00001","article-title":"The first and second branchial arch syndrome","volume":"36","author":"Grabb WC","year":"1965","journal-title":"Plast Reconstr Surg"},{"issue":"3","key":"ref5","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1017\/S0001566000005961","article-title":"Discordance for skeletal and cardiac defect in monozygotic twins","volume":"33","author":"Stoll C","year":"1984","journal-title":"Acta Genet Med Gemellol"},{"issue":"4","key":"ref6","first-page":"303","article-title":"The etiology of external ear malformations and its relation to abnormalities of the middle ear, inner ear and other organ systems","volume":"16","author":"Melnick M","year":"1980","journal-title":"Birth Defects Orig Artic Ser"},{"issue":"4","key":"ref7","first-page":"276","article-title":"Oculoauriculoveretbral spectrum: an updated critique","volume":"26","author":"Cohen Jr MM","year":"1989","journal-title":"Cleft Palate J"},{"key":"ref8","series-title":"Otolaryngology","first-page":"1","volume-title":"Developmental anatomy of the ear","author":"Pearson A","year":"1978"},{"issue":"4","key":"ref9","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1097\/00129492-200107000-00016","article-title":"Goldenhar\u2019s syndrome: congenital hearing deficit of conductive or sensorineural origin? 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