case_images: PMC5057431_01
case_images: Picture of the patient performed at 14 months demonstrates epicanthal folds, smooth philtrum, thin upper lip, low-set ears, prominent frontal bossing and sparse light hair, carp-shaped mouth
case_images: 13039_2016_285_Fig1_HTML.jpg
case_images: PMC5057431_01_13039_2016_285_Fig1_HTML.jpg
case_images: Fig1
case_images: We report the case of a 2-year-old male born at term after an uneventful pregnancy from healthy unrelated parents (Fig. 1).
case_images: Temporal bone CT. Coronal (a) and axial (b) images reveal marked stenosis and peculiar vertical orientation of the bony portions of the external auditory canals (arrowheads) associated with rotation and fusion of the malleus to the lateral middle ear cavity wall
case_images: 13039_2016_285_Fig2_HTML.jpg
case_images: PMC5057431_01_13039_2016_285_Fig2_HTML.jpg
case_images: Fig2
case_images: CT scan of the temporal bone confirmed bilateral atresia of the membranous portions and marked stenosis of the bony portions of the external auditory canals (Fig. 2). 
case_images: Brain MRI and MR spectroscopy performed at 24 months of age. a Axial T2-weighted image shows diffuse hyperintensity of the cerebral white matter with relative sparing of the corpus callosum. Long TE spectroscopy (b) reveals an elevated choline peak (arrow), while short TE spectroscopy (c) demonstrates a slightly increased myoinositol peak (arrow)
case_images: 13039_2016_285_Fig3_HTML.jpg
case_images: PMC5057431_01_13039_2016_285_Fig3_HTML.jpg
case_images: Fig3
case_images: A follow-up brain MRI at this age demonstrated an unchanged pattern of abnormal intensity of the white matter on T2-weighted images (Fig. 3a).