PMC7160337_01
Clinical features of the patient in the present study. (A) The following visible symptoms are shown: bilateral ptosis (not shown due to censuring patient identity) with hyperextension of ankle and carpal joints (left); foot drop (middle); high-arched palate (right); (B) thoracolumbar scoliosis; (C) mild shallowness and bluntness of the right acetabular bone, indicating dysplasia; (D) EEG showing extensive 3-4.5 HZ. theta and delta waves mixed with non-sustained discharges of a small amount of low-amplitude spike/sharp waves during shallow sleep.
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F1
She also had a high-arched palate, enamel hypoplasia, and a small jaw; she did not exhibit nystagmus (Figure 1A). Thoracolumbar scoliosis and right acetabular dysplasia were revealed by X ray (Figures 1B,C). Electroencephalography (EEG) showed extensive 3-4.5 Hz, theta and delta waves mixed with non-sustained discharges of a small amount of low-amplitude spike/sharp waves during shallow sleep (Figure 1D).