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Clinical spectrum, MRI findings and spine X-ray of patient H4 with HGPPS. a Facial photograph. b Nine gaze photographs show limited horizontal eye movements and full vertical eye movements. c, d Photographs of the body show obvious scoliosis. e Spine X-ray shows obvious thoracolumbar scoliosis. f–h Normal CN3, CN6 and EOMs. The MRI was taken at the age of 9y. i A deep posterior midsagittal cleft of the pons. j Flattening and butterfly-like morphology in the medulla
