Article Figures & Data
Figures
- FIG 1.
Temporal bone imaging appearance in a patient with EYA1-BOR. A, Axial CT image in bone algorithm shows an offset cochlea; the middle turn (arrow) is aligned more anteromedially than usual relative to the basal turn (arrowhead). The cochlea is, overall, small with a hypoplastic apical turn. B, Axial CT image in bone algorithm at a more superior level shows a medialized and widened labyrinthine facial nerve canal (arrow). The PSCC is anomalous, appearing as a blind-ending tubular structure (arrowhead).
- FIG 2.
Temporal bone imaging appearance in a patient with SIX1-BOR. A, Axial CT image in bone algorithm shows absence of the cochlear offset; the middle turn (long arrow) is normally aligned relative to the basal turn (arrowhead) without anteromedial displacement. The thorny apical turn can also be appreciated (short arrow). B, Axial CT image in bone algorithm at a more superior level shows a normal course of the labyrinthine facial nerve canal (arrow) without medialization or widening.
- FIG 3.
Thorny apical turn of the SIX1-BOR cochlea. Axial heavily T2-weighted MR image (A) and 3D reconstruction of the cochlea (B) show a short, thin, protuberant projection forming the apical turn, imparting upon it a thorny morphology (arrows in A and B). Contrast it with the normal apical turn morphology in a patient with normal hearing and no history of BOR or sensorineural hearing loss (C and D), which is longer with a smooth flat appearance and rounded end (arrows in C and D).
Tables
Diagnostic criteria for BOR syndrome (Chang et al9)a
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 ↵a To meet the criteria for BOR, an individual must meet 3 major criteria, 2 major and at least 2 minor criteria, or 1 major criterion with an affected first-degree relative who meets criteria for BOR.
