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Table 1 Diagnostic criteria for BOR syndrome*

From: From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome – case report

Major criteria

Minor criteria

Branchial anomalies

External ear anomalies

Deafness

Middle ear anomalies

Preauricular pits

Inner ear anomalies

Renal anomalies

Preauricular tags

 

Other: facial asymmetry, palate abnormalities

  1. For a clinical diagnosis of BORSD, an affected individual must have at least three major criteria; two major criteria and at least two minor criteria; or one major criterion and an affected first-degree relative meeting criteria for BOR syndrome
  2. *These diagnostic criteria were devised and published by Chang et al. (2004) [4]