PMC7585648_01
Patient's face and tongue showing facial dysmorphic features.
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fig1
The proband's dysmorphic features are as follows: a prominent forehead, posteriorly rotated ears, low nasal bridge, bulbous nasal tip, malar hypoplasia, deep-set eyes, macroglossia, prominent upper lip, flat philtrum (Figure 1), and short fingers (Figure 2).
Patient's hands showing short fingers.
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The proband's dysmorphic features are as follows: a prominent forehead, posteriorly rotated ears, low nasal bridge, bulbous nasal tip, malar hypoplasia, deep-set eyes, macroglossia, prominent upper lip, flat philtrum (Figure 1), and short fingers (Figure 2).
Brain MRI showing normal and progressive myelination but mild loss of volume in the corpus callosum.
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fig3
A brain multiplanar multisequenced magnetic resonance imaging (MRI) was performed at 11 months of age and showed normal and progressive myelination but mild loss of volume in the corpus callosum (Figure 3).