[A case of Schwartz syndrome (author's transl)].
Authors described a case of Schwartz syndrome in a two year old child, whose rare and typical clinical picture was characterized by blepharophimosis, myopia, typical facial signs, myotonia, muscular atrophy and articular motility restriction, which microscopical analysis study was requested.
D000015:Abnormalities, Multiple / Q000473:pathology*; D001847:Bone Diseases / Q000473:pathology; D002675:Child, Preschool; D004392:Dwarfism / Q000473:pathology; D005145:Face; D005260:Female; D006801:Humans; D009122:Muscle Hypertonia / Q000473:pathology; D009133:Muscular Atrophy / Q000473:pathology; D009135:Muscular Diseases / Q000473:pathology*; D013577:Syndrome
Síndrome de Schwartz. A propósito dum caso clínico.