Table 1.
Neuroradiology findings of patients with available imaging.
| Study ID | EAC | Ossicles | MEC & Mastoid | Round & oval windows | Cochlea | Cochlear aperture | Vestibule & SCC | IAC | Pons | Other |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | - | - | - | - | - | - | - | - | Misshapen | Slight IVH |
| 3 | N | Thickened stapedial crura Malleus fixation Malformed incus |
Under-pneumatized Lt mastoid air cells Low tegmen tympani |
Stenotic Lt oval & round windows | N | N | Mildly dilated horizontal SCC & small bone island | Flared | Slightly short | Metopic suture synostosis |
| 4 | N | N | N | N | Thick right modiolus | Stenotic | N | N | Slightly short | Slight IVH |
| 5 | - | - | - | - | - | - | - | - | Slightly short | Slight IVH |
| 6 | N | Thick Lt stapedial posterior crus Possible ossicular fixation Malformed incus |
Under-pneumatized mastoid air cells Low tegmen tympani |
N | N | N | N | N | Misshapen | Slight IVH |
| 7 | - | - | - | - | - | - | - | - | Misshapen | Slight IVH Malformed cerebellum Delayed myelination |
| 8 | - | - | - | - | Malformed modioli & apical turns | N | N | Flared | Slightly short | Slight IVH |
| 9 | N | Thickened stapedial crura Slightly malformed malleus & incus Malleus ankylosed |
Slightly under-pneumatized mastoid air cells | Stenotic Lt oval & round windows | Malformed modioli | N | Small bone island right horizontal SCC | Flared | Misshapen | |
| 12 | - | - | - | - | - | - | - | - | Short | Slightly uplifted vermis Metopic suture synostosis |
| 14 | N | Thickened stapedial crura Lt malleus ankylosed Malformed incus |
Low tegmen tympani | Slightly stenotic oval windows | Dysmorphic modioli | N | N | Flared | Short | Slightly uplifted vermis Unilateral coronal suture synostosis |
| 16 | - | - | - | - | - | - | - | - | Slightly short | |
| 17 | - | - | - | - | - | - | Malformed horizontal SCCs & absent bone islands | N | Misshapen | IVH |
| 20 | - | - | - | - | - | - | - | - | Slightly short | Slight IVH Hypoplasia CC Lobar HPE Absent right olfactory bulb |
| 22† | Rt stenotic | Rt tilted small monopod stapes Lt short thick crura absent IS joint Malleus ankylosed Incus malformed |
Low tegmen tympani | Stenotic oval windows & Lt round window | Tapered, small middle turns absent apical turns Malformed modioli |
Stenotic | Absent posterior SCCs Partial absence anterior limb superior SCCs |
N | Slightly short |
†:
Proband
Abbreviations: N: Normal; EAC: External auditory canal; MEC: Middle ear cavity; SCC: Semicircular canal; IAC: Internal auditory canal; IVH: inferior vermian hypoplasia; Lt: left, Rt: right; CC: corpus callosum; HPE: holoprosencephaly