Of these 10 cases, 5 were associated with either branchio-otic syndrome or branchio-oto-renal syndrome; 2 patients had familial branchio-otic syndrome, 2 had nonfamilial branchio-otic syndrome, and I had nonfamilial branchio-oto-renal syndrome.
1-8) Of these 10 cases, 5 were associated with either branchio-otic syndrome or branchio-oto-renal syndrome; 2 patients had familial branchio-otic syndrome, (5,7) 2 had nonfamilial branchio-otic syndrome, (1,4) and 1 had nonfamilial branchio-oto-renal syndrome (3) (table).
Branchio-oto-renal syndrome is an autosomal dominant disorder characterized bybranchial anomalies, auricular malformations, and renal anomalies.
In the absence of a family history, various major and minor criteria are used to establish a diagnosis of branchio-oto-renal syndrome.
To be diagnosed with branchio-oto-renal syndrome, a patient must exhibit either (1) three or more major criteria, (2) two major and two or more minor criteria, or (3) one major criterion and have an affected first-degree relative who meets the criteria for branchio-oto-renal syndrome.
Bilateral branchial anomalies are more often associated with branchio-oto-renal syndrome or branchio-otic syndrome, (5,13) and they necessitate further testing, including evaluation of the ears and the auditory and renal systems.