case_images: PMC11254747_01
case_images: Clinical features. (A,B) Facial features of the affected individual. She has a short, upturned nose with a sunken bridge, thin lips, and flat occiput. (C,D) The brain MRI results in an infant aged 1 year 3 months. The white arrows show delayed white matter myelination and the thinly developed splenium of the corpus callosum.
case_images: fped-12-1328063-g001.jpg
case_images: PMC11254747_01_fped-12-1328063-g001.jpg
case_images: F1
case_images: She has specific facial features, with a short, upturned nose with a sunken bridge, thin lips, and a flat occiput (Figures 1A,B). Brain MRI results suggested that white matter myelination might be delayed when compared with children of the same age, and the splenium of the corpus callosum developed thinly (Figures 1C,D).
case_images: PMC11254747_02
case_images: The genetic finding for our patient. (A) The pedigree for our patient. (B) Sanger sequencing verified the variant we found. (C) The spectrum of METTL23 gene variants has been found.
case_images: fped-12-1328063-g002.jpg
case_images: PMC11254747_02_fped-12-1328063-g002.jpg
case_images: F2
case_images: The METTL23 variant found in our patient was inherited from her father (Figure 2A), which was confirmed using Sanger sequencing (Figure 2B).