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Neuropediatrics 1985; 16(1): 43-45
DOI: 10.1055/s-2008-1052543
CASE REPORTS

© Georg Thieme Verlag KG Stuttgart · New York

Variability of Outcome in Joubert Syndrome

P.  Casaer1 , J. S. H. Vles1 , H.  Devlieger1 , E.  Eggermont1 , M.  Boel1 , R.  Dom2
  • 1Department of Paediatrics, Katholieke Universiteit Leuven, B-3000 Leuven, Belgium
  • 2Department of Neurology, Katholieke Universiteit Leuven, B-3000 Leuven, Belgium
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Publication History

Publication Date:
30 April 2008 (online)

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Abstract

Two children with Joubert syndrome are reported. Patient one is the first case with Joubert syndrome where CT-findings are confirmed by autopsy. Until now only three cases with necropsy findings were reported. Patient two shows a remarkable clinical outcome not previously mentioned.

Key words

Joubert syndrome - Cranial computed tomography - Neuropathological findings - Clinical outcome

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