BACKGROUND AND PURPOSE: Temporal bone imaging plays an important role in the
work-up of branchio-oto-renal syndrome. Previous reports have suggested that the unwound …

BACKGROUND AND PURPOSE: An “unwound” or “offset” cochlea has been described as a
characteristic imaging feature in patients with branchio-oto-renal syndrome, and recently …

BACKGROUND AND PURPOSE: Branchio-oto-renal syndrome is an important syndromic
cause of hearing loss. Our aim was to determine the test characteristics of the unwound …

Background: Branchio-oto-renal syndrome (BOR) and branchio-oto syndrome (BOS) are
rare autosomal dominant disorders defined by varying combinations of branchial, otic, and …

Abstract Objectives/Hypothesis: To explore the genetic characteristics of branchio‐oto‐renal
(BOR) syndrome in an East Asian population. Study Design: Prospective clinical genetic …

Abstract Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder
characterized by branchiogenic anomalies, hearing loss, and renal anomalies. The aim of …

Branchio-oto-renal syndrome (BOR) is an autosomal dominant genetic disorder
characterized by branchial fistulas, hearing impairment, renal malformations and auricular …

Some patients have an atypical form of branchio-oto-renal (BOR) syndrome, which does not
satisfy the diagnostic criteria, despite carrying a pathogenic variant (P variant) or a likely …

Introduction Branchio-oto-renal (BOR) syndrome is an autosomal-dominant genetic
condition with high penetrance and variable expressivity, with an estimated prevalence of 1 …

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder with branchial,
otologic, and renal manifestations. The branchial manifestations usually are …