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

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 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

Molar Tooth Sign Is Not Pathognomonic for Joubert Syndrome

2013 ◽  
Vol 49 (6) ◽  
pp. 515-516 ◽  
Author(s):  
Mehmet Alp Dirik ◽  
Uluç Yiş ◽  
Eray Dirik
Keyword(s):  
Joubert Syndrome ◽  
Molar Tooth ◽  
Molar Tooth Sign

The Molar Tooth Sign of Joubert Syndrome

2007 ◽  
Vol 64 (4) ◽  
pp. 602 ◽  
Author(s):  
Jyoti Kumar ◽  
Atin Kumar ◽  
Sanchita Saha
Keyword(s):  
Joubert Syndrome ◽  
Molar Tooth ◽  
Molar Tooth Sign

scholarly journals Newborn with multiple congenital anomalies in newborn, intensive care unit suggestive of joubert syndrome and related disorder with an atypical presentation

2019 ◽  
Vol 6 (6) ◽  
pp. 2726
Author(s):  
Garima Goyal ◽  
Ajay Arya
Keyword(s):  
Congenital Anomalies ◽  
Joubert Syndrome ◽  
Magnetic Resonance Images ◽  
Molar Tooth ◽  
Multicystic Dysplastic Kidney ◽  
Facial Dysmorphism ◽  
Multiple Congenital Anomalies ◽  
Related Disorder ◽  
Molar Tooth Sign ◽  
Dysplastic Kidney

Joubert syndrome (JS) is a rare autosomal recessive disorder with key finding of cerebellar vermis hypoplasia with a complex brainstem malformation that comprises the molar tooth sign on axial magnetic resonance images. This syndrome is difficult to diagnose clinically because of its variable phenotype. Molar tooth sign is not specific for JS. Another entity is termed as Joubert syndrome and related disorders (JSRD). Although the molar tooth sign and other important clinical features of the JS may be seen in these syndromes, they usually have supplementary prominent features. Author present a case of Joubert syndrome and related disorder in a term newborn delivered in the hospital of Government Medical College, Haldwani with multiple congenital anomalies. Macrocephaly, facial dysmorphism, polydactyly left hand and bilateral ballotable lumbar lump (multicystic dysplastic kidney). MRI showed molar tooth configuration of superior cerebellar peduncles, dilatation of lateral and third ventricles with aqueductal stenosis with arachnoid cyst (unusual association).

scholarly journals Joubert syndrome type I: neuroimaging findings in addition to the 'molar tooth' sign

2010 ◽  
Vol 2010 (apr29 1) ◽  
pp. bcr1120092464-bcr1120092464
Author(s):  
S. Kaur ◽  
K. Kulkarni
Keyword(s):  
Joubert Syndrome ◽  
Molar Tooth ◽  
Type I ◽  
Syndrome Type ◽  
Molar Tooth Sign
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