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Related Experiment Video

Updated: Jul 2, 2026

Symmetric Bihemispheric Postmortem Brain Cutting to Study Healthy and Pathological Brain Conditions in Humans

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Published on: December 18, 2016

Joubert Plus Syndrome with Self-Mutilation: A Case report.

Yousr N Mowafy, Nadia A Wahba, Aly A Sharaf

The Journal of Clinical Pediatric Dentistry

|January 5, 2017

Summary

This summary is machine-generated.

Joubert syndrome, a rare condition, can lead to severe self-mutilation in children. Early intervention and a multidisciplinary approach are crucial for managing this rare condition and its complications.

Keywords:

Joubert syndrome MRI Molar tooth sign Self-mutilation

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Area of Science:

Pediatric Dentistry
Neurology
Genetics

Background:

Joubert syndrome is a rare genetic disorder characterized by specific brain abnormalities, including the molar tooth sign.
Joubert plus syndrome is a rarer subtype, combining Joubert syndrome features with Dandy-Walker malformation (mega cisterna magna).

Observation:

A 16-month-old male diagnosed with Joubert syndrome presented with severe self-inflicted injuries to his tongue and lower lip.
The child's self-mutilation necessitated significant dental intervention.

Findings:

The case highlights the severe oral manifestations of Joubert syndrome, specifically self-mutilation.
Multiple teeth extractions under general anesthesia were required to manage the injuries and prevent further harm.

Implications:

Joubert plus syndrome, though rare, poses life-threatening risks due to self-mutilation.
Tailored treatment plans and a multidisciplinary team approach are essential for managing patients with Joubert syndrome and associated self-harm behaviors.