International Journal of Clinical Pediatric Dentistry

Register      Login

VOLUME 9 , ISSUE 4 ( October-December, 2016 ) > List of Articles


Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome

Anju S Rajwar, Mahesh Verma

Keywords : Hypoplasia, Magnetic resonance imaging, Molar tooth sign

Citation Information : Rajwar AS, Verma M. Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome. Int J Clin Pediatr Dent 2016; 9 (4):379-383.

DOI: 10.5005/jp-journals-10005-1394

License: CC BY-NC 4.0

Published Online: 01-04-2019

Copyright Statement:  Copyright © 2016; The Author(s).


Joubert syndrome (JS) is a very rare autosomal recessive disorder, involving agenesis or dysgenesis of cerebellar vermis and brain stem. The neurological features of JS include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. These may be associated with multiorgan involvement, mainly retinal dystrophy, nephronophthisis, hepatic fibrosis, and polydactyly. An obligatory hallmark feature associated with JS is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain imaging. This case report presents a pediatric case of JS in a 7-year-old girl. Joubert syndrome cases have been reported by various medical specialties in medical journals; however, this probably could be the first report of this rare developmental disorder in dental and oral health. How to cite this article: Goswami M, Rajwar AS, Verma M. Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome. Int J Clin Pediatr Dent 2016;9(4):379-383.

PDF Share
  1. Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969 Sep;19(9):813-825.
  2. Brancati F, Dallapiccola B, Valente EM. Joubert syndrome and related disorders. Orphanet J Rare Dis 2010 Jul;5:20.
  3. Parisi MA, Doherty D, Eckert ML, Shaw DW, Ozyurek H, Aysun S, Giray O, Al Swaid A, Al Shahwan S, Dohayan N, et al. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. J Med Genet 2006 Apr;43(4):334-339.
  4. Braddock SR, Henley KM, Maria BL. The face of Joubert syndrome: a study of dysmorphology and anthropometry. Am J Med Genet A 2007 Dec;143A(24):3235-3242.
  5. Maria BL, Hoang KB, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, Hove MT, Fennell EB, Booth-Jones M, Ringdahl DM, et al. “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997 Oct;12(7):423-430.
  6. Quisling RG, Barkovich AJ, Maria BL. Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome. J Child Neurol 1999 Oct;14(10):628-635; discussion 669-672.
  7. Poretti A, Huisman TA, Scheer I, Boltshauser E. Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients. AJNR Am J Neuroradiol 2011 Sep;32(8):1459-1463.
  8. Ghosh MK, Paul R, Pramanik S, Sarkar SK. Joubert syndrome – the molar tooth abnormality of midbrain. Asian J Pharmac Health Sci 2013 Jan-Mar;3(1):594-596.
  9. Tusa RJ, Hove MT. Ocular and oculomotor signs in Joubert syndrome. J Child Neurol 1999 Oct;14(10):621-627.
  10. Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol 1999 Oct;14(10): 660-666; discussion 669-672.
  11. Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E. Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol 1999 Jun;14(6):368-376.
  12. Van Beek EJ, Majoie CB. Case 25: Joubert syndrome. Radiology 2000 Aug;216(2):379-382.
  13. Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J Med Genet 1992 Jul;43(4):726-731.
  14. Saar K, Al-Gazali L, Sztriha L, Rueschendorf F, Nur-E-Kamal M, Reis A, Bayoumi R. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Am J Hum Genet 1999 Dec;65(6):1666-1671.
  15. Spinella GM. Research directions. Follow up of the Joubert Syndrome workshop, October 21, 1998. J Child Neurol 1999 Oct;14(10):667-672.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.