PMC5471966_01
Facial dysmorphism of the patient, including narrow forehead, slightly drooping eyelids, short palpebral fissures and prominent ears
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Fig1
He has a narrow forehead, slightly drooping eyelids, short palpebral fissures, and prominent ears (Fig. 1).
a Ophthalmoscopy photos of the patient showed the partial degeneration of the choroid in both eyes. b High-resolution CT imaging showed the cochlea deformity of the patient, including the short base turn of the cochlea, unclear division between the second turn and the apical turn of the cochlea and the absence of the modiolus
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Fig2
Ophthalmoscopy showed partial degeneration of the eye choroid (Fig. 2a). High resolution CT (HRCT) imaging showed that the base turn of the cochlea was shortened, the second turn and the apical turn were merged or unclearly divided, and the modiolus was absent, which evidently supported for the inner ear malformation (Fig. 2b).