{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:08:27Z","timestamp":1777522107499,"version":"3.51.4"},"reference-count":37,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2010,9,1]],"date-time":"2010-09-01T00:00:00Z","timestamp":1283299200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2010,9]]},"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To describe the clinical, speech, hearing, and imaging findings in three members of a Brazilian family with Saethre-Chotzen syndrome (SCS) who presented some unusual characteristics within the spectrum of the syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Clinical evaluation was performed by a multidisciplinary team. Direct sequencing of the polymerase chain reaction\u2013amplified coding region of the TWIST1 gene, routine and electrophysiological hearing evaluation, speech evaluation, and imaging studies through computed tomography (CT) scan and magnetic resonance imaging (MRI) were performed.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>TWIST1 gene analysis revealed a Pro136His mutation in all patients. Hearing evaluation showed peripherial and mixed hearing loss in two of the patients, one of them with severe unilateral microtia. Computed tomography scan showed structural middle ear anomalies, and MRI showed distortion of the skull contour as well as some of the brain structures.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>We report a previously undescribed TWIST1 gene mutation in patients with SCS. There is evidence that indicates hearing loss (conductive and mixed) can be related both with middle ear (microtia, high jugular bulb, and enlarged vestibules) as well as with brain stem anomalies. Here we discuss the relationship between the gene mutation and the clinical, imaging, speech, and hearing findings.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1597\/08-251.1","type":"journal-article","created":{"date-parts":[[2010,9,7]],"date-time":"2010-09-07T16:09:39Z","timestamp":1283875779000},"page":"548-552","source":"Crossref","is-referenced-by-count":6,"title":["Saethre-Chotzen Syndrome, Pro136His TWIST Mutation, Hearing Loss, and External and Middle Ear Structural Anomalies: Report on a Brazilian Family"],"prefix":"10.1177","volume":"47","author":[{"given":"Dion\u00edsia A.C.","family":"Lam\u00f4nica","sequence":"first","affiliation":[{"name":"University of S\u00e3o Paulo, College of Dentistry, Speech-Pathology and Audiology Department, Bauru, SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luciana P.","family":"Maximino","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo, College of Dentistry, Speech-Pathology and Audiology Department, Bauru, SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariza Ribeiro","family":"Feniman","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo, College of Dentistry, Speech-Pathology and Audiology Department, Bauru, SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Greyce K.","family":"Silva","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo, College of Dentistry, Speech-Pathology and Audiology Department, Bauru, SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sthella","family":"Zanchetta","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo, College of Medicine, Department of Ophthalmology, Otorhinolaringology & Head and Neck Surgery, Ribeir\u00e3o Preto, SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dagma V.M.","family":"Abramides","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo, College of Dentistry, Speech-Pathology and Audiology Department, Bauru, SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Rita","family":"Passos-Bueno","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo, Human Genome Project of the Institute of Biosciences, S\u00e3o Paulo, SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K\u00e1tia","family":"Rocha","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo, Human Genome Project of the Institute of Biosciences, S\u00e3o Paulo, SP, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Richieri-Costa","sequence":"additional","affiliation":[{"name":"University of S\u00e3o Paulo's Hospital for Rehabilitation of Craniofacial Anomalies, Bauru, Brazil."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2010,9,1]]},"reference":[{"key":"bibr1-08-251.1","volume-title":"Manual das Matrizes Progressivas Coloridas Raven\u2014Escala especial.","author":"Angelinni A.","year":"1999"},{"key":"bibr2-08-251.1","volume-title":"Manual das Matrizes Progressivas Coloridas Raven\u2014Escala Geral.","author":"Angelinni A.","year":"2003"},{"key":"bibr3-08-251.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31296"},{"key":"bibr4-08-251.1","volume-title":"Manual do examinador: Teste Illinois de Habilidades Psicoling\u00fcisticas.","author":"Bogossian MADS","year":"1977"},{"key":"bibr5-08-251.1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-003-1012-7"},{"key":"bibr6-08-251.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10400"},{"key":"bibr7-08-251.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350108"},{"key":"bibr8-08-251.1","doi-asserted-by":"publisher","DOI":"10.1097\/01.sap.0000149387.95212.df"},{"key":"bibr9-08-251.1","doi-asserted-by":"publisher","DOI":"10.1097\/01.prs.0000221009.93022.50"},{"key":"bibr10-08-251.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0010-9452(78)80006-9"},{"key":"bibr11-08-251.1","doi-asserted-by":"publisher","DOI":"10.1017\/S0317167100005059"},{"key":"bibr12-08-251.1","volume-title":"Test de vocabul\u00e1rio por Im\u00e1genes Peabody (Peabody Picture Vocabulary Test). 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