Aspects cliniques du syndrome de schwartz jampel: a propos de quatre nouvelles observations familiales et d'une revue la litterature
Tunisie Medicale [La]. 1994; 72 (1): 39-45
in French
| IMEMR
| ID: emr-35738
ABSTRACT
The schwartz- jampel syndrom or the osteo chondromuscular dystrophy is a rare affection. We had reviewed 50 cases in the literature, we present in this study four new familial cases. The diagnosis is always clinical before a dysmorphic nanism with anomalies of skeleton. The electromyography confirmes the diagnosis by objectiving the myotony the syndrome expressivity is variable. The transmission of this disease is discussed. The pathogenesis is always not clear, a sarcolemnic desorder may be responsable of the myotony
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Review
/
Electromyography
Type of study:
Case report
Limits:
Humans
Language:
French
Journal:
Tunisie Med.
Year:
1994
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