title: Joubert syndrome in three children in a family: a case series.
abstract: Joubert syndrome (JS) is a rare autosomal recessive central nervous system malformation characterized by hypoplasia of the cerebellar vermis, hypotonia and abnormal psychomotor development, along with altered respiratory pattern and various ophthalmologic features. Here, we describe three children with Joubert syndrome in a family that had almost similar presentations, including ataxia, developmental delay, mental retardation and ocular disorders. Prevalence of Joubert syndrome is about 1 in 100,000 live birth. It may be accompanied by other organs' disorders. The molar tooth sign is pathognomonic for joubert syndrome that is ascertained by brain MRI.
authors.affiliation: Professor of Pediatric Neurology, Ghaem Medical Center, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Javad
authors.initials: J
authors.lastname: Akhondian
authors.affiliation: Professor of Pediatric Neurology, Ghaem Medical Center, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Farah
authors.initials: F
authors.lastname: Ashrafzadeh
authors.affiliation: Fellow of Pediatric Neurology, Ghaem Medical Center, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Mehran
authors.initials: M
authors.lastname: Beiraghi Toosi
authors.affiliation: Resident of Pediatrics, Ghaem Medical Center, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Nasrin
authors.initials: N
authors.lastname: Moazen
authors.affiliation: Student of Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Toktam
authors.initials: T
authors.lastname: Mohammadpoor
authors.affiliation: Student of Medicine, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Reza
authors.initials: R
authors.lastname: Karami
keywords: Joubert syndrome; Molar tooth sign; Vermian dysgenesis