case_images: PMC11390182_01
case_images: Facial features showing mild flat facies and prominent cheeks and open mouth in child with PURA syndrome (a and b).
case_images: CRIG2024-6009569.001.jpg
case_images: PMC11390182_01_CRIG2024-6009569.001.jpg
case_images: fig1
case_images: Examination revealed plagiocephaly, squint, prominent cheeks, poorly formed nasal columella, inverted V-shaped upper lip, open mouth (Figure 1), and hypotonia.
case_images: PMC11390182_02
case_images: The facial dysmorphism including coarse facies and hirsutism in child with Coffin Siris syndrome with pathogenic ARID1B variant.
case_images: CRIG2024-6009569.002.jpg
case_images: PMC11390182_04_CRIG2024-6009569.002.jpg
case_images: fig2
case_images: A 3-year-old male child (case 9) presented with low birth weight (2 kg), developmental delay, microcephaly (-3.4Z), right microcornea, long eyelashes, squint, retrognathia, low-set ears hearing impairment, and a happy demeanor (Figure 2S).
case_images: PMC11390182_03
case_images: Facial profile of Case 15 with possible blended phenotype.
case_images: CRIG2024-6009569.003.jpg
case_images: PMC11390182_03_CRIG2024-6009569.003.jpg
case_images: fig3
case_images: Examination revealed microcephaly and dysmorphism (Figure 3).
case_images: PMC11390182_04
case_images: The facial dysmorphism including coarse facies and hirsutism in child with Coffin Siris syndrome with pathogenic ARID1B variant.
case_images: CRIG2024-6009569.002.jpg
case_images: PMC11390182_04_CRIG2024-6009569.002.jpg
case_images: fig2
case_images: A 3-year-old male child (case 9) presented with low birth weight (2 kg), developmental delay, microcephaly (-3.4Z), right microcornea, long eyelashes, squint, retrognathia, low-set ears hearing impairment, and a happy demeanor (Figure 2S).