Article: Joubert's Syndrome: A Case Report
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.
Abid Amin
SKIMS Medical College Hospital Bemina Srinagar Kashmir
Arshad Farooq
Professor in Paediatrics, Sher-i-kashmir Institute of Medical Sciences and Medical College Hospital Bemina
Ali M Lone
Resident in Surgery, Sher-i-kashmir Institute of Medical Sciences Soura
Hakim Irfan
Resident in Paediatrics, Sher-i-kashmir Institute of Medical Sciences and Medical College Hospital Bemina
Shayiq Wani
Resident in Paediatrics, Sher-i-kashmir Institute of Medical Sciences and Medical College Hospital Bemina
Raashid Hamid
Resident in Surgery, Sher-i-kashmir Institute of Medical Sciences Soura
Keywords
Joubert's syndrome, molar tooth sign, cerebellar peduncles, vermis hypoplasia
Identifier
https://doi.org/10.3126/jnps.v31i2.3908
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