scholarly journals Head titubation: an unrecognized manifestation of Joubert syndrome and other (midline) cerebellar disorders?

2014 ◽  
Vol 56 (10) ◽  
pp. 925-926 ◽  
Author(s):  
Ginevra Zanni
Keyword(s):  
Joubert Syndrome ◽  
Cerebellar Disorders

The molar tooth sign: A new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families

Neurology ◽  
2008 ◽  
Vol 70 (7) ◽  
pp. 556-565 ◽  
Author(s):  
M. S. Zaki ◽  
A. Abdel-Aleem ◽  
G. Abdel-Salam ◽  
S. E. Marsh ◽  
J. L. Silhavy ◽  
...  
Keyword(s):  
Classification System ◽  
Joubert Syndrome ◽  
Molar Tooth ◽  
Molar Tooth Sign ◽  
Cerebellar Disorders

Joubert syndrome: long-term follow-up

2004 ◽  
Vol 46 (10) ◽  
Author(s):  
Peter R Hodgkins ◽  
Christopher M Harris ◽  
Fatima S Shawkat ◽  
Dorothy A Thompson ◽  
Kling Chong ◽  
...  
Keyword(s):  
Joubert Syndrome ◽  
Long Term Follow Up

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

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