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Schwartz-Jampel syndrome. Report of two cases and review of the literature

Plasencia, A.; Alpera, R.; Borrajo, E.; Fernández, C.I.; Martínez-Huguet, F.

Anales Espanoles de Pediatria 13(11): 1031-1042

1980

ISSN/ISBN: 0302-4342
PMID: 7212465
Document Number: 155679
Two cases of Schwartz-Jampel syndrome are reported in addition to the 30 described previously. Authors present a study on the incidence of different signs and symptoms in all cases reviewed by them and on the radiological, biochemical, electromyographic, immunological and pathologic findings of all these cases concluding that the definitive data, present in all of them, is the association of facial dysmorphia, osteomuscular dystrophy and a muscular syndrome of myotonic aspect.

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