Open AccessJoubert syndrome: Clinical and radiological characteristics of nine patients
Author(s) -
Ahmed Farag Elhassanien,
Hesham Abdel-Aziz Alghaiaty
Publication year - 2013
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.427
H-Index - 31
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/0972-2327.112480
Subject(s) - medicine , joubert syndrome , pediatrics , hypoplasia , cerebellar vermis , aplasia , neuroimaging , cerebellar hypoplasia (non human) , medical record , cerebellum , psychiatry , biology , cilium , microbiology and biotechnology
Joubert Syndrome (JS) is a rare genetic developmental disorder, first identified in 1969. In patients with JS, certain regions of the brain (mainly cerebellar vermis and brainstem) are underdeveloped or malformed. This can lead to impaired attention, visual, spatial, motor, language and social functional skills. JS is characterized by a host of features, many of which do not occur in every patient.