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. Author manuscript; available in PMC: 2019 Nov 1.
Published in final edited form as: Am J Med Genet A. 2018 Sep 14;176(11):2404–2418. doi: 10.1002/ajmg.a.40482

Fig. 1: CT and MRI of the inner ear in order of the degree of cochlear hypoplasia. Patient 1 (a-d), patient 3 (e-h), patient 2 (i-l) and patient 4 (m-p).

Fig. 1:

Axial CT image (a) demonstrates lateral tapering (arrow) of the basal turn at the junction of the ductus reuniens. Axial CT (b) and axial T2W (c) images demonstrate a cystic cochlea (arrows) and a persistent anlage of the lateral semicircular canal (open arrows). Sagittal T2W image (d) reveals 4 nerves in the internal auditory canal. The cochlear nerve (arrow) is present, but smaller than the other nerves.

Axial CT (e) demonstrates a hypoplastic basal turn and cochlea (arrow). Axial CT (f) demonstrates an amorphous cystic cochlea (arrow) and a hypoplastic cochlear nerve canal (black arrow). Axial CT image (g) demonstrates a persistent anlage of the posterior semicircular canal (open arrow), lacking a bone island. Axial CT (h) reveals a truncated superior semicircular canal with only the anterior limb (arrow). The apex and posterior limb are absent.

Axial CT image (i) reveals a tiny cochlea (arrow). Axial CT image (j) reveals a normal bone island within the lateral semicircular canal (open arrow). Axial T2W (k) image shows a tiny cochlea (arrow). Sagittal T2W image (l) reveals only 2 nerves (facial and vestibular nerves) (arrow) in the internal auditory canal. The cochlear nerve is absent and the internal auditory canal is small.

Axial CT (m) reveals absent basal turn of the cochlea (*), while axial CT (n) demonstrates a hypoplastic cochlea (black arrow). 3D surface reconstruction (o) also confirms cochlear hypoplasia (arrow) and absent basal turn, while lack of cochlear nerve (white arrow) is shown on axial T2W MRI (l). The semicircular canals and vestibule are normal.