Patient Data
Age: 20 years
Gender: Male
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/17754/annotated_viewer_json?lang=us"}
There are thickening and elongation of the superior cerebellar peduncle with hypoplasia of the isthmus and deep anterior cleft in the midbrain giving a molar tooth appearance. The interpeduncular fossa is also prominent. In addition, there is hypoplasia of cerebellar vermis with incomplete lobulation and mildly enlarged 4th ventricle, giving the bat wing appearance.