Paper Information

Journal:   IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)   WINTER 2013 , Volume 7 , Number 1; Page(s) 39 To 42.
 
Paper:  JOUBERT SYNDROME IN THREE CHILDREN IN A FAMILY: A CASE SERIES
 
Author(s):  AKHONDIAN JAVAD, ASHRAFZADEH FARAH, BEIRAGHI TOOSI MEHRAN*, MOAZEN NASRIN, MOHAMMADPOOR TOKTAM, KARAMI REZA
 
* PEDIATRIC WARD, GHAEM MEDICAL CENTER, MASHHAD UNIVERSITY OF MEDICAL SCIENCES, MASHHAD, IRAN
 
Abstract: 

Joubert syndrome (JS) is a rare autosomal recessive central nervous system malformation characterized by hypoplasia of the cerebellar vermis, hypotonia and abnormal psychomotor development, along with altered respiratory pattern and various ophthalmologic features.
Here, we describe three children with Joubert syndrome in a family that had almost similar presentations, including ataxia, developmental delay, mental retardation and ocular disorders.
Prevalence of Joubert syndrome is about 1 in 100,000 live birth. It may be accompanied by other organs’ disorders. The molar tooth sign is pathognomonic for joubert syndrome that is ascertained by brain MRI.

 
Keyword(s): JOUBERT SYNDROME, MOLAR TOOTH SIGN, VERMIAN DYSGENESIS
 
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