Presentation
Hypotonia
Patient Data
Age: 20 months
Gender: Female
From the case:
Joubert syndrome
{"current_user":null,"step_through_annotations":true,"access":{"can_edit":false,"can_download":true,"can_toggle_annotations":true,"can_feature":false,"can_examine_pipeline_reports":false,"can_pin":false},"extraPropsURL":"/studies/10075/annotated_viewer_json?c=1696822661\u0026lang=us"}
Superior cerebellar peduncles are thickened elongated with midline cleft at the pontomesencephalic junction, giving molar tooth appearance. Hypoplasia of inferior vermis giving bat wing appearance of fourth ventricle.
Case Discussion
MRI appearances are typical of Joubert syndrome. Note the molar tooth sign.
Unable to process the form. Check for errors and try again.