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Clin Dysmorphol. 2010 Oct;19(4):181-4.

Mitral valve prolapse as a new finding in branchio-oto-renal syndrome.

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  • 1Department of Otolaryngology-Head and Neck Surgery, Faculty of Medicine, School of Medicine, Afyon Kocatepe University, Afyonkarahisar, Turkey.


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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