{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T07:34:49Z","timestamp":1767339289138,"version":"3.40.5"},"reference-count":39,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2022,2,4]],"date-time":"2022-02-04T00:00:00Z","timestamp":1643932800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A diagnosis of oculo\u2010auriculo\u2010vertebral spectrum (OAVS) is established when microtia is present in association with hemifacial hypoplasia (HH) and\/or ocular, vertebral, and\/or renal malformations. There is no consensus on which imaging studies should be used to rule out variable expressivity and distinguish \u201csporadic\u201d from \u201cfamilial\u201d patients. This observational and descriptive study was performed in a Mexican population of 51 patients (32 males, 19 females, 0\u201318\u2009years old) with microtia\/OAVS, and their available parents. A clinical history, genealogy, and physical examination were obtained from all included patients, as were a computed tomography (CT) scan of the ear, audiological evaluation, orthopantomography, complete spine radiography, and renal ultrasound. The same approach was completed in their available parents (51 mothers and 40 fathers), excluding the CT scan and audiological evaluation. By genealogy, 53% of patients were classified as \u201csporadic\u201d; of the \u201cfamilial\u201d patients, at least 79.1% had suggestion of a multifactorial inheritance. In the available parents, orthopantomography, complete spine X\u2010ray, and renal ultrasound identified the following OAVS\u2010related manifestations: HH (16.2%, <jats:italic>n<\/jats:italic>\u00a0=\u00a014\/86), vertebral alterations (10.9%, <jats:italic>n<\/jats:italic>\u00a0=\u00a010\/91), and renal anomalies (2.2%, <jats:italic>n<\/jats:italic>\u00a0=\u00a02\/90). Our evaluation of the parents allowed three patients to be reclassified from \u201csporadic\u201d to \u201cfamilial\u201d (5.8%, <jats:italic>n<\/jats:italic>\u00a0=\u00a03\/51). Our proposed clinical and imaging approach allowed the identification of variable expressivity that more clearly distinguished between \u201csporadic\u201d and \u201cfamilial\u201d OAVS patients, which is of utmost importance in providing proper genetic counseling to these families.<\/jats:p>","DOI":"10.1002\/ajmg.a.62678","type":"journal-article","created":{"date-parts":[[2022,2,4]],"date-time":"2022-02-04T12:33:48Z","timestamp":1643978028000},"page":"1515-1525","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Proposed clinical approach and imaging studies in families with <scp>oculo\u2010auriculo\u2010vertebral<\/scp> spectrum to assess variable expressivity"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0553-0452","authenticated-orcid":false,"given":"Bernardette","family":"Estandia\u2010Ortega","sequence":"first","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Subdirecci\u00f3n de Investigaci\u00f3n M\u00e9dica, Instituto Nacional de Pediatr\u00eda, Avenida Insurgentes Sur 3700\u2010C Insurgentes Cuicuilco  Ciudad de M\u00e9xico M\u00e9xico"},{"name":"Posgrado en Ciencias Biol\u00f3gicas, Unidad de Posgrado, UNAM, Circuito de los Posgrados S\/N Ciudad Universitaria  Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4153-6966","authenticated-orcid":false,"given":"Liliana","family":"Fern\u00e1ndez\u2010Hern\u00e1ndez","sequence":"additional","affiliation":[{"name":"Laboratorio de Biolog\u00eda Molecular, Subdirecci\u00f3n de Investigaci\u00f3n M\u00e9dica, Instituto Nacional de Pediatr\u00eda, Avenida Insurgentes Sur 3700\u2010C Insurgentes Cuicuilco  Ciudad de M\u00e9xico M\u00e9xico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0592-8214","authenticated-orcid":false,"given":"Miguel 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