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Neuropediatrics 1990; 21(4): 206-210
DOI: 10.1055/s-2008-1071497
Original article

© Georg Thieme Verlag KG Stuttgart · New York

Chondrodystrophic Myotonia (Schwartz-Jampel Syndrome) in South African Children

M.  Moodley , A.  Moosa
  • Department of Paediatrics and Child Health, Faculty ot Medicine, University of Natal, Congella, Republic of South Africa
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Publication History

Publication Date:
19 March 2008 (online)

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Abstract

Three children with the clinical features of the Schwartz-Jampel syndrome are presented, two with classical features and the third with physical and radiological features resembling those found in the Schwartz-Jampel syndrome but myotonia could not be elicited either clinically or electrophysiologically. Various arguments are put forward for the absence of myotonic phenomena in the latter child.

Key words

Chondrodystrophic myotonia - Schwartz-Jampel syndrome - Children

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