case_images: PMC11811630_01
case_images: (A) Family pedigree of the patient. (B) Electropherogram of DNA sequencing of the patient, carriers, and normal individuals in the family.
case_images: MGG3-13-e70081-g002.jpg
case_images: PMC11811630_01_MGG3-13-e70081-g002.jpg
case_images: mgg370081-fig-0001
case_images: At the time of birth, he exhibited an anterior open bite, a high vaulted and constricted maxillary arch, and missing lateral incisors (Figure 1A). Given these neurological findings, we conducted further advanced diagnostic assessments, including an electroencephalogram (EEG), electromyography, and a comprehensive metabolic examination (Figure 1B).