Joubert's Syndrome: A Case Report

Authors

  • 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

DOI:

https://doi.org/10.3126/jnps.v31i2.3908

Keywords:

Joubert's syndrome, molar tooth sign, cerebellar peduncles, vermis hypoplasia

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.

Key words: Joubert's syndrome; molar tooth sign; cerebellar peduncles; vermis hypoplasia.

DOI: 10.3126/jnps.v31i2.3908

J Nep Paedtr Soc 2010;31(2):141-142

Downloads

Download data is not yet available.
Abstract
925
PDF
671

Author Biography

Abid Amin, SKIMS Medical College Hospital Bemina Srinagar Kashmir

Pediatrics, Senior Resident

Downloads

Published

2011-05-06

How to Cite

Amin, A., Farooq, A., Lone, A. M., Irfan, H., Wani, S., & Hamid, R. (2011). Joubert’s Syndrome: A Case Report. Journal of Nepal Paediatric Society, 31(2), 141–142. https://doi.org/10.3126/jnps.v31i2.3908

Issue

Vol. 31 No. 2 (2011)

Section

Brief Reports/Case Reports/Case Series

License

Authors who publish with this journal agree to the following terms:

Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.

Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.

Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work (See The Effect of Open Access).