title: Joubert syndrome. Review of the fifty-three cases so far published.
abstract: Joubert's syndrome (JS) is an autosomal recessive disorder, which is characterised by a variable combination of central nervous, respiratory and eye anomalies. We review the clinical characteristics of the 53 so far reported children with Joubert's syndrome, stressing the importance of recognising the syndrome in the neonatal period, in order that specific and effective therapeutic measures be started as soon as possible.
authors.affiliation: Department of Pediatrics, University of Roma, La Sapienza, Italia.
authors.forename: A
authors.initials: A
authors.lastname: Cantani
authors.forename: P
authors.initials: P
authors.lastname: Lucenti
authors.forename: G A
authors.initials: GA
authors.lastname: Ronzani
authors.forename: C
authors.initials: C
authors.lastname: Santoro
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001766:Blindness / Q000175:diagnosis; D002531:Cerebellum / Q000002:abnormalities*; D003616:Dandy-Walker Syndrome / Q000175:diagnosis; D003937:Diagnosis, Differential; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D012120:Respiration Disorders / Q000151:congenital / Q000235:genetics*; D013577:Syndrome