case_images: PMC7585648_01
case_images: Patient's face and tongue showing facial dysmorphic features.
case_images: CRIPE2020-8820966.001.jpg
case_images: PMC7585648_01_CRIPE2020-8820966.001.jpg
case_images: fig1
case_images: 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).
case_images: Patient's hands showing short fingers.
case_images: CRIPE2020-8820966.002.jpg
case_images: PMC7585648_01_CRIPE2020-8820966.002.jpg
case_images: fig2
case_images: 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).
case_images: Brain MRI showing normal and progressive myelination but mild loss of volume in the corpus callosum.
case_images: CRIPE2020-8820966.003.jpg
case_images: PMC7585648_01_CRIPE2020-8820966.003.jpg
case_images: fig3
case_images: 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).