PMC4989077_01
Three-dimensional ultrasonography demonstrated ventromedial displacement of the ear (arrow), small opening of the mouth, and mandibular agenesis (arrowhead).
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Lower facial anomalies were assessed by three-dimensional (3D) ultrasonography, which revealed an absence of the mandible, low-set ventromedial displacement of the ear, and small opening of the mouth (Figure 1).
Magnetic resonance imaging demonstrated agnathia with low-set ventromedial displaced ear (arrowhead) and small opening of the mouth (arrow).
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MRI findings were consistent with the 3D ultrasonography findings and the ears were located in a much lower part of the face more than initially suspected by ultrasonographic findings (Figure 2).
Postmortem image shows microstomia (characteristic of agnathia-otocephaly) and a proboscis with two nostrils.
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The neonate had isolated agnathia, microstomia, a proboscis with two nostrils, and downward-slanting palpebral fissures (Figure 3).