PMC3952380_01
27-year-old female with poor vision and inability to hear was subsequently diagnosed with CHARGE syndrome. (a and b) Standard photographs of the ears from lateral view show bilateral microtia grade I/II (arrows).
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F1
There was bilateral Grade I/II microtia [Figure 1].
27-year-old female with poor vision and inability to hear was subsequently diagnosed with CHARGE syndrome. (a and b) Fundus photographs (antero-posterior view) show bilateral, symmetrical, chorioretinal colobomata involving the optic discs and macula (arrows).
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F2
There was no iris coloboma but symmetrical, large colobomata involving the optic nerve, choroid, and retina were present [Figure 2a and b].
27-year-old female with poor vision and inability to hear was subsequently diagnosed with CHARGE syndrome. (a) Axial Constructive Interference in Steady State (CISS) T2-weighted MRI at the level of internal auditory meatus shows bilateral hypoplasia of semicircular canals seen as small saccular structures instead of normal "D" like canalicular structure (small arrows) and cochlea shows only one and half (11/2) turns instead of normal two and half (21/2) or more (large arrows). (b) Three-dimensional reconstruction of CISS MRI images of the right internal auditory apparatus confirming rudimentary semicircular canals (small arrow) and hypoplasia of cochlea (large arrow). (c) T2 Fast spin echo mid-sagittal reconstruction of MRI head shows associated craniovertebral junction anomaly with fused C2 and C3 vertebrae with rudimentary intervertebral disc (dotted arrow) and basilar invagination (solid arrow). (d) Axial CISS T2 weighted MRI at the level of orbits shows defects of choroid (solid arrows).
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F3
Magnetic resonance imaging (MRI) revealed bilateral hypoplasia of vestibule, lateral semicircular canals, and cochlea with visualization of about 11/2-turns [Figure 3a and b]. There was basilar invagination with short clivus, fused C2 and C3 vertebrae, and partially occipitalized atlas [Figure 3c]. There was a large posterior global defect with adjacent deformed and thinned out sclera around the optic disc in both eyes [Figure 3d].