| Mitral valve prolapse as a new finding in branchio-oto-renal syndrome. | |
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MedLine Citation:
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PMID: 20845527 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report a patient and his family, who have branchio-oto-renal (BOR) syndrome and coexisting mitral valve prolapse. A literature review of BOR syndrome failed to identify any similar families and we report this as a new observation. During the preoperative assessment of a patient with BOR syndrome, tachycardia was noted and a cardiologic examination including echocardiography revealed mitral valve prolapse. Members of his extended family were investigated, including carrying out cardiology and otolaryngology examinations to determine whether they had signs of either BOR syndrome or cardiac problems. Mitral valve prolapse was identified in five (71.4%) of the seven BOR syndrome patients in the family. Deafness was present in all patients. Distribution of the other clinical findings of the BOR syndrome patients were as follows: branchial fistula in five (71.4%), preauricular pits in four (57.1%), ear deformity in two (28.5%), renal anomalies in three (42.8%), lacrimal duct anomaly in two (28.5%) and orbital anterior compartment anomaly in one (14.2%). We conclude that mitral valve prolapse can be associated with BOR syndrome. Further large studies are needed to clarify this association. |
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Authors:
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Abdullah Ayçiçek; Hayrettin Sağlam; Cevdet Uğur Koçoğullari; Nurten Turhan Haktanir; Fevzi Sefa Dereköy; Mustafa Solak |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Clinical dysmorphology Volume: 19 ISSN: 1473-5717 ISO Abbreviation: Clin. Dysmorphol. Publication Date: 2010 Oct |
Date Detail:
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Created Date: 2010-09-15 Completed Date: 2011-01-03 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9207893 Medline TA: Clin Dysmorphol Country: England |
Other Details:
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Languages: eng Pagination: 181-4 Citation Subset: IM |
Affiliation:
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Department of Otolaryngology-Head and Neck Surgery, Faculty of Medicine, School of Medicine, Afyon Kocatepe University, Afyonkarahisar, Turkey. draycicek@mynet.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Branchio-Oto-Renal Syndrome
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pathology* Female Humans Male Mitral Valve Prolapse / diagnosis* Pedigree |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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