Joubert Syndrome.
Article
in English
| IMSEAR
| ID: sea-157472
ABSTRACT
Joubert syndrome is a very rare condition seen in our country. Herein, we report a case of Joubert syndrome in a one year four months old, male baby from a consanguineous marriage presenting with delayed developmental milestone, hypotonia, abnormal respiratory pattern and nystagmus . Cranial MRI shows ‘‘Molar Tooth Sign’’.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Respiration Disorders
/
Syndrome
/
Abnormalities, Multiple
/
Humans
/
Male
/
Ocular Motility Disorders
/
Cerebellum
/
Eye Abnormalities
/
Consanguinity
/
Nystagmus, Congenital
Country/Region as subject:
Asia
Language:
English
Year:
2012
Type:
Article
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