title: [Joubert syndrome].
abstract: Joubert syndrome was first described in 1969 and 100 cases have been published so far. It includes: partial or complete agenesis of the vermis, episodic hyperpnea, ataxia, a disorder of ocular movement and mental retardation. It is autosomal recessive and there are descriptions of families with involvement of multiple children, both boys and girls. Since dysmorphic signs are not prominent in this syndrome, diagnosis is often delayed. To the best of our knowledge, Joubert syndrome has not been previously described in Israel. We present a family with 3 siblings with this syndrome. Increased awareness will lead to earlier diagnosis, proper developmental treatment, and accurate genetic counseling.
authors.affiliation: Pediatric Dept., Institute for Child Development, Dana Children's Hospital.
authors.forename: E
authors.initials: E
authors.lastname: Scheuer
authors.forename: T
authors.initials: T
authors.lastname: Lerman-Sagie
authors.forename: A
authors.initials: A
authors.lastname: Fattal
authors.forename: J J
authors.initials: JJ
authors.lastname: Meir
authors.forename: S
authors.initials: S
authors.lastname: Harel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001259:Ataxia / Q000235:genetics; D002531:Cerebellum / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D015835:Ocular Motility Disorders / Q000235:genetics; D013577:Syndrome