OBJECTIVES/HYPOTHESIS: To describe temporal bone findings using visual inspection and direct measurement on computerized tomography (CT) in individuals with branchio-oto-renal syndrome (BOR). We ask if it is possible for the untrained observer to use a battery of CT observations as a tool in the overall evaluation of the BOR phenotype. STUDY DESIGN: Retrospective evaluation of CT findings in individuals with a clinical diagnosis of BOR based on criteria derived from genotype-phenotype analyses. METHODS: Prospective measurement of temporal bone CT imaging in 21 individuals (42 ears) with BOR and 21 normally hearing controls (21 ears) was performed. Thirty-nine aspects of each temporal bone were evaluated: 17 by direct measurement, 5 computed from direct measurement, and 17 by visual inspection. Thirty-eight recordings from each ear were made on axial section and 1 was made on coronal section. RESULTS: Statistically significant differences were found between BOR and control groups in 30 of 39 categories (76.9%). The most common and easily identifiable characteristics of BOR by visual inspection were 1) hypoplastic apical turn of the cochlea, 2) facial nerve deviated to the medial side of the cochlea, 3) funnel-shaped internal auditory canal, and 4) patulous eustachian tube. The embryological origin of temporal bone anomalies in BOR are described. CONCLUSIONS: CT evaluation of the temporal bone, when properly investigated, should be used as an important tool in the overall evaluation of the BOR phenotype.
OBJECTIVES/HYPOTHESIS: To describe temporal bone findings using visual inspection and direct measurement on computerized tomography (CT) in individuals with branchio-oto-renal syndrome (BOR). We ask if it is possible for the untrained observer to use a battery of CT observations as a tool in the overall evaluation of the BOR phenotype. STUDY DESIGN: Retrospective evaluation of CT findings in individuals with a clinical diagnosis of BOR based on criteria derived from genotype-phenotype analyses. METHODS: Prospective measurement of temporal bone CT imaging in 21 individuals (42 ears) with BOR and 21 normally hearing controls (21 ears) was performed. Thirty-nine aspects of each temporal bone were evaluated: 17 by direct measurement, 5 computed from direct measurement, and 17 by visual inspection. Thirty-eight recordings from each ear were made on axial section and 1 was made on coronal section. RESULTS: Statistically significant differences were found between BOR and control groups in 30 of 39 categories (76.9%). The most common and easily identifiable characteristics of BOR by visual inspection were 1) hypoplastic apical turn of the cochlea, 2) facial nerve deviated to the medial side of the cochlea, 3) funnel-shaped internal auditory canal, and 4) patulous eustachian tube. The embryological origin of temporal bone anomalies in BOR are described. CONCLUSIONS: CT evaluation of the temporal bone, when properly investigated, should be used as an important tool in the overall evaluation of the BOR phenotype.
Authors: J Pao; F D'Arco; E Clement; S Picariello; G Moonis; C D Robson; A F Juliano Journal: AJNR Am J Neuroradiol Date: 2022-01-20 Impact factor: 3.825
Authors: Philippe Lemay; Susan P Knowler; Samir Bouasker; Yohann Nédélec; Simon Platt; Courtenay Freeman; Georgina Child; Luis B Barreiro; Guy A Rouleau; Clare Rusbridge; Zoha Kibar Journal: PLoS One Date: 2014-04-16 Impact factor: 3.240