Familial Joubert syndrome: A clinico-radiological findings in two siblings

Abhishek Mahajan, Sajan Joy

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Abstract

Joubert syndrome is a rare autosomal recessive disorder with malformations of brain stem and cerebellum, manifested by abnormal respiratory pattern, ocular abnormalities, ataxia and developmental retardation. "molar tooth sign", seen on brain magnetic resonance imaging illustrates the typical neuro-radiological appearance of this condition. In this report, we describe the familial occurrence of Joubert syndrome in two siblings with emphasis on the imaging features of this rare syndrome.

Original languageEnglish
Pages (from-to)427-430
Number of pages4
JournalJournal of Pediatric Neurology
Volume7
Issue number4
DOIs
Publication statusPublished - 11-11-2009
Externally publishedYes

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All Science Journal Classification (ASJC) codes

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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