Joubert syndrome. Review of the fifty-three cases so far published
Cantani, A.; Lucenti, P.; Ronzani, G.A.; Santoro, C.
Annales de Genetique 33(2): 96-98
1990
ISSN/ISBN: 0003-3995 PMID: 2241092 Document Number: 361639
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.