[Schwartz-Jampel syndrome. Report of two cases and review of the literature (author's transl)].
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.
D000015:Abnormalities, Multiple / Q000473:pathology*; D001847:Bone Diseases / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005145:Face; D005260:Female; D006618:Hip Dislocation, Congenital / Q000473:pathology; D006801:Humans; D008297:Male; D009122:Muscle Hypertonia / Q000473:pathology; D009133:Muscular Atrophy / Q000473:pathology; D009135:Muscular Diseases / Q000473:pathology*; D013577:Syndrome
Síndrome de Schwartz-Jampel. Revisión bibliográfica y aportación de dos nuevos casos.