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Paper Information

Journal:   IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)   SPRING 2013 , Volume 7 , Number 2; Page(s) 43 To 46.
 
Paper: 

JOUBERT SYNDROME WITH VARIABLE FEATURES: PRESENTATION OF TWO CASES

 
 
Author(s):  BARZEGAR MOHAMMAD*, MALAKI MAJID, SADEGI-HOKMABADI ELYAR
 
* PEDIATRIC HEALTH RESEARCH CENTER, TABRIZ UNIVERSITY OF MEDICAL SCIENCES, TABRIZ, IRAN
 
Abstract: 

Joubert syndrome is a very rare disorder characterized by respiratory irregularities, nystagmus, hypotonia, and global developmental delay with abnormalities of cerebellum. We present two cases of this syndrome with different phenotypes. The first case was an 8-month-old girl with hypotonia, apnea, and mild developmental delay as well as retinal degeneration and unilateral renal cystic dysplasia. The second case was a 27-month-old boy who presented with episodes of hyperpnea, apnea, retinal dystrophy, and severe global developmental delay. Both patients had normal metabolic profile and prototype imaging of joubert syndrome including vermis agenesis and molar tooth sign.

 
Keyword(s): JOUBERT SYNDROME, DEVELOPMENTAL DELAY, RESPIRATORY IRREGULARITY, MOLAR TOOTH SIGN
 
References: 
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