PMC9798425_01
Photo of the patient before the port-a-cath exchange. Her dysmorphic features were wide prominent forehead, flat nose, large anterior fontanelle, web neck, and skeletal dysplasia.
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PMC9798425_01_fphar-13-1038090-g001.jpg
F1
She was diagnosed with MPI-CDG with protein-losing enteropathy, hypoalbuminemia, hypogammaglobulinemia (IgG = 118.0 mg/dl), muscular hypotonia, and some dysmorphic features, including a wide prominent forehead, flat nose, large anterior fontanelle, web neck, and skeletal dysplasia (Figure 1).