Abnormal posterior brain and molar tooth sign in a fetus with Joubert syndrome at 11 – 13 weeks – new gene mutation discovered: Case report

2016 ◽  
Vol 37 (S 01) ◽  
Author(s):  
A Brückmann ◽  
D Brückmann ◽  
A Hering ◽  
R Lachmann
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Joubert Syndrome ◽  
Molar Tooth ◽  
Molar Tooth Sign ◽  
New Gene

Joubert Plus Syndrome with Self-Mutilation: A Case report

2017 ◽  
Vol 41 (1) ◽  
pp. 66-69 ◽  
Author(s):  
Yousr N Mowafy ◽  
Nadia A Wahba ◽  
Aly A Sharaf
Keyword(s):  
Case Report ◽  
Multidisciplinary Approach ◽  
Treatment Plan ◽  
Rare Condition ◽  
Joubert Syndrome ◽  
Pediatric Dentistry ◽  
Lower Lip ◽  
Molar Tooth Sign ◽  
Self Mutilation ◽  
Dismal Prognosis

Background: Joubert syndrome is a very rare condition with dismal prognosis. It is characterized by several abnormalities including molar tooth sign on MRI. When coupled with mega cisterna magna- a feature of the Dandy Walker syndrome- it is categorized as Joubert plus syndrome. Case report: A 16 month old male child with Joubert syndrome was referred to the Pediatric Dentistry Department Clinic, Faculty of Dentistry Alexandria University, complaining of severe tongue and lower lip injury due to self-mutilation. He required multiple teeth extractions under general anesthesia to prevent further tongue and lip mutilation. Conclusion: Joubert plus syndrome is a very rare occurring condition. Because self-mutilation is sometimes fatal, a treatment plan tailored to each patient's need is mandatory. A multidisciplinary approach is recommended.

Molar Tooth Sign in Joubert Syndrome: Clinical, Radiologic, and Pathologic Significance

1999 ◽  
Vol 14 (6) ◽  
pp. 368-376 ◽  
Author(s):  
Bernard L. Maria ◽  
Ronald G. Quisling ◽  
Louis C. Rosainz ◽  
Anthony T. Yachnis ◽  
Jill Gitten ◽  
...  
Keyword(s):  
Joubert Syndrome ◽  
Molar Tooth ◽  
Molar Tooth Sign

scholarly journals Joubert syndrome: The molar tooth sign of the mid-brain

2013 ◽  
Vol 3 (2) ◽  
pp. 291 ◽  
Author(s):  
C Nag ◽  
M Ghosh ◽  
K Das ◽  
TN Ghosh
Keyword(s):  
Joubert Syndrome ◽  
Molar Tooth ◽  
Molar Tooth Sign

scholarly journals Joubert Syndrome: A Molar Tooth Sign in Disguise

Cureus ◽  
2020 ◽  
Author(s):  
Likhita Shaik ◽  
Abhimanyu Ravalani ◽  
Shruti Nelekar ◽  
Vamsi Krishna Gorijala ◽  
Kaushal Shah
Keyword(s):  
Joubert Syndrome ◽  
Molar Tooth ◽  
Molar Tooth Sign

scholarly journals Joubert Syndrome: A Case Report

2018 ◽  
Vol 15 (1) ◽  
pp. 23-26 ◽  
Author(s):  
Prakash Kafle ◽  
Sushil Krishna Shilpakar ◽  
Mohan Raj Sharma ◽  
Gopal Sedain ◽  
Amit K Pradhanang ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Case Report ◽  
Fourth Ventricle ◽  
Autosomal Recessive ◽  
Developmental Disorder ◽  
Joubert Syndrome ◽  
Cerebellar Vermis ◽  
Resonance Imaging ◽  
Molar Tooth Sign ◽  
Magnetic Resonance Imaging Mri

Joubert syndrome (JS) isa rare autosomal recessive neuro developmental disorder involving cerebellar vermis and brainstem, marked by agenesis of cerebellar vermis, ataxia, hypotonia, oculomotor apraxia, neonatal breathing problems and mental retardation. Magnetic Resonance Imaging (MRI) reveals the characteristic Molar tooth sign of midbrain and Batwing appearance of rostral fourth ventricle. Nepal Journal of Neuroscience 15:23-26, 2018

scholarly journals EP06.05: It is possible to diagnose Joubert syndrome with prenatal sonographic “molar tooth sign”

2019 ◽  
Vol 54 (S1) ◽  
pp. 262-262
Author(s):  
C. Guo ◽  
L. Sun ◽  
Y. Xuan ◽  
Y. Ma ◽  
Q. Wu
Keyword(s):  
Joubert Syndrome ◽  
Molar Tooth ◽  
Molar Tooth Sign
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