| Saethre-Chotzen Syndrome, Pro136His TWIST Mutation, Hearing Loss, and External and Middle Ear Structural Anomalies: Report on a Brazilian Family. | |
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MedLine Citation:
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PMID: 20184424 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Abstract Objective: 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. Design: Clinical evaluation was performed by a multidisciplinary team. Direct sequencing of the polymerase chain reaction-amplified 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. Results: 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. Conclusions: 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. |
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Authors:
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Dionísia A C Lamônica; Luciana P Maximino; Mariza Ribeiro Feniman; Greyce K Silva; Sthella Zanchetta; Dagma V M Abramides; Maria Rita Passos-Bueno; Kátia Rocha; Antonio Richieri-Costa |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association Volume: 47 ISSN: 1545-1569 ISO Abbreviation: Cleft Palate Craniofac. J. Publication Date: 2010 Sep |
Date Detail:
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Created Date: 2010-11-02 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9102566 Medline TA: Cleft Palate Craniofac J Country: United States |
Other Details:
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Languages: eng Pagination: 548-52 Citation Subset: D; IM |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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