Joubert’s Syndrome: A Case Report.
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Date
2011-05
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Abstract
Joubert’s syndrome is an autosomal recessive congenital disorder having characteristic clinical features
like hypotonia, ataxia, developmental delay and many neurological problems. Other variable features
include retinal dystrophy, cystic kidney disease liver fibrosis etc. Treatment for Joubert syndrome is
symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may
benefit some patients. Infants with abnormal breathing patterns should be monitored.
Description
Keywords
Joubert’s syndrome, molar tooth sign, cerebellar peduncles, vermis hypoplasia
Citation
Amin A, Farooq A, Ali M Lone, Irfan H, Wani S, Hamid R. Joubert’s Syndrome: A Case Report. Journal of Nepal Paediatric Society. 2011 May-Aug; 31(2): 141-142.