Review of the Recurrent 8q13.2q13.3 Branchio-Oto-Renal Related Microdeletion, and Report of an Additional Case with Associated Distal Arthrogryposis

摘要

Recurrent 2.65Mb deletions of 8q13.2q13.3 encompassing EYA1 have been recently described in the literature as a cause of branchio-oto-renal syndrome (BOR). Other clinical features of this recurrent microdeletion syndrome are still being delineated. We describe an additional patient with BOR due to microdeletion of 8q13.2q13.3. In addition to BOR related features, our patient presented with distal arthrogryposis that was detected prenatally, a phenotype that has not previously been described in patients with this deletion. (C) 2016 Wiley Periodicals, Inc.