History of Joubert syndrome and a 30-year follow-up of the original proband

Journal of Child Neurology

Volumn 14, Issue 9, 1999, Pages 565-569

  Andermann, Frederick ^a   Andermann, Eva ^a   Ptito, Alain ^a   Fontaine, Suzanne ^a   Joubert, Marie ^a  

^a MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBRAL PALSY; EYE MOVEMENT DISORDER; FOLLOW UP; HUMAN; INFANT; JOUBERT SYNDROME; MALE; MENTAL DEFICIENCY; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; REVIEW; SPEECH DISORDER;

EID: 0032873477     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/088307389901400903     Document Type: Review

References (2)

1. Joubert M, Eisenring JJ, Preston R, Andermann F: Familial agenesis of the cerebellar vermis: A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969;19:813-825.
2. Maria BL, Hoang K, Tusa R, et al: "Joubert syndrome" revisited: Key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997;12:423-430.