Orocraniofacial findings of a Pediatric Patient with Joubert Syndrome

JOURNAL TITLE: International Journal of Clinical Pediatric Dentistry

Author
1. Mahesh Verma
2. Anju S Rajwar
ISSN
0974-7052
DOI
10.5005/jp-journals-10005-1394
Volume
9
Issue
4
Publishing Year
2016
Pages
5
Author Affiliations
    1. Department of Pedodontics and Preventive Dentistry, Maulana Azad Institute of Dental Sciences, New Delhi, India
  • Article keywords
    Hypoplasia, Magnetic resonance imaging, Molar tooth sign

    Abstract

    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.

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