Publications by authors named "Julian Severin"

KBG syndrome is a rare genetic condition caused by mutations, often presenting with distinctive syndromic features, including macrodontia and skeletal anomalies. This case highlights a teenage boy with KBG syndrome presenting with tethered cord syndrome (TCS)-a progressive condition where spinal cord fixation restricts movement-causing motor, sensory and urological symptoms.The patient presented with leg stiffness, gait changes and bowel and bladder symptoms, initially misdiagnosed as catatonia.

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