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A new case of Ullrich's disease.
Santoro, L; Marmo, C; Gasparo-Rippa, P; Toscano, A; Sadile, F; Barbieri, F.
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  • Santoro L; Department of Clinical Neurophysiology, 2nd School of Medicine, University of Naples, Italy.
Clin Neuropathol ; 8(2): 69-71, 1989.
Article en En | MEDLINE | ID: mdl-2721043
A new case of congenital, hypotonic-sclerotic muscular dystrophy is presented. The patient showed congenital hyperlaxity and looseness of distal joints, muscle weakness, and spur-like protrusion of the calcaneus. Afterwards rapid progressive contractures of both knees and hip joints developed. Muscle biopsies revealed unequivocal dystrophic abnormalities and small atrophic fibers with numerous foldings of basal lamina suggestive of a neurogenic lesion. The disease presents clinical variability but the diagnosis is possible when a newborn shows: no dominant family history, slender body, marked distal joint laxity and hyperflexibility, proximal joint contractures and normal or slightly increased serum enzymes.
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Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Escoliosis / Cifosis / Distrofias Musculares Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Clin Neuropathol Año: 1989 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Alemania
Buscar en Google
Añadir a Mi BVS
Imprimir
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PubMed Links

Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Escoliosis / Cifosis / Distrofias Musculares Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Humans / Male Idioma: En Revista: Clin Neuropathol Año: 1989 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Alemania