MRI in Children with familial developmental delay: Joubert syndrome in Siblings

Dr. Vijayan. A.P, Dr. Manjula Anand, Dr. Khais kuningatt


   In this report, we describe the  occurrence of familial developmental delay in two siblings with emphasis on the role of  MRI in making the diagnosis. MRI is seldom a very useful diagnostic test in the evaluation of children with developmental delay. “Molar tooth sign”, seen on brain magnetic resonance imaging illustrates the typical neuro-radiological appearance of Joubert syndrome where all other investigations will be normal.

In this syndrome children with delayed development associated with hypotonia,abnormal respiratory pattern, ocular abnormalities, ataxia and developmental retardation will show malformations of brain stem and cerebellum in MRI


Joubert, MRI, molar tooth, autosomal recessive.

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Quisling RG, Barkovich AJ, Maria BL. Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome. J Child Neurol 1999; 14: 628-635.

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; 19: 813-825.

Saraiva JM, Baraitser M. Joubert syndrome: a review. Am J Med Genet 1992; 43: 726-731.

Maria BL, Quisling RG, Rosainz LC et al. Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance. J Child Neurol 1999; 14: 368-376.

Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 1999; 14: 583-590.

Raynes HR, Shanske A, Goldberg S, Burde R, Rapin I. Joubert syndrome: monozygotic twins with discordant phenotypes. J Child Neurol 1999; 14: 649-654.

Online Mendelian Inheritance in Man. OMIM Johns Hopkins University, Baltimore, MD. MIM Number:#213300.

Barkovich AJ. Pediatric Neuroimaging (3rd ed). New York, NY: Raven, 2000.

Fluss J, Blaser S, Chitayat D et al. Molar tooth sign in fetal brain magnetic resonance imaging leading to the prenatal diagnosis of Joubert syndrome and related disorders. J Child Neurol 2006; 21: 320-324.

Reynders CS, Pauker SP, Benacerraf BR First trimester isolated fetal nuchal lucency: significance and outcome. J Ultrasound Med 1997; 16: 101-105.

Doherty D, Glass IA, Siebert JR et al. Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI.PrenatDiagn 2005; 25: 442-447.


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