case_images: PMC10801012_01
case_images: Clinical manifestations and audiological evaluation. (A) Pedigree of family. (B) The proband had type III cup-shaped right ear (red arrow (B1)), external auditory canal stenosis, bilateral preauricular pits (white arrows (B1-B2)), and bilateral branchial fistulae (white arrows (B3-B4)). (C) Pure-tone audiometry revealed mixed hearing loss in the right ear (average air conduction threshold, 59 dB; average bone conduction threshold, 26 dB (C1)), and severe-to-profound sensorineural hearing loss in the left ear (C2). (D) Acoustic immittance test showed type "C" tympanogram in the right ear that indicates secretory otitis media (D1), and type "A" tympanogram in the left ear (D2).
case_images: fgene-14-1292085-g001.jpg
case_images: PMC10801012_01_fgene-14-1292085-g001.jpg
case_images: F1
case_images: The Second Xiangya Hospital of Central South University, China with bilateral hearing loss, preauricular pits, and branchial fistulae, along with an external ear anomaly in the right ear (Figure 1 B1-B4). The patient also had SOM in the right ear, which caused ear fullness and further mixed hearing loss. He and his family then enrolled in our study to undergo further evaluations (Figures 1A-II:2). Micro-otoscopy and pure-tone audiometry (PTA) were used to evaluate hearing levels (Figure 1 C1-C2).
case_images: HRCT of proband (A) Cochlear hypoplasia in the right ear (arrow). (B) Lateral semicircular canal-vestibule dysplasia in the left ear (arrow). (C) Cochlear hypoplasia with less than two turns in the left ear. (D) Soft tissue shadow in the right middle ear (red arrow). Cochlear hypoplasia on both sides (white arrows). (E) Lateral semicircular canal-vestibule dysplasia in the left ear (arrow). (A-C) Coronal view; (D,E) Axial view. HRCT, high-resolution computed tomography.
case_images: fgene-14-1292085-g002.jpg
case_images: PMC10801012_01_fgene-14-1292085-g002.jpg
case_images: F2
case_images: He and his family then enrolled in our study to undergo further evaluations (Figures 1A-II:2). High-resolution computed tomography (HRCT) of the temporal bone was performed to determine the middle and inner ear morphologies (Figure 2).