Figure 1.

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. θ and δ waves mixed with non-sustained discharges of a small amount of low-amplitude spike/sharp waves during shallow sleep.