نتایج جستجو برای: jampel syndrome
تعداد نتایج: 621922 فیلتر نتایج به سال:
The Schwartz-Jampel Syndrome (SJS) is a very rare condition characterised by Constant fìndings such as typical facial appearance, muscle hypertrophy and continuous muscle activity. Other fìndings are more or less frequently associated, especially skeletai abnormalities, including dwarfism or anyway short stature. The Authors review thè literature about this condition analysing thè clinical pict...
Case Report Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome) Nicola C. Ho, M.D., Stacey Sandusky, B.S., Victor Madike, M.S., Clair A. Francomano, M.D., and Marino C. Dalakas, M.D. 3 Human Genetics & Integrative Medicine Section, LG, NIA, National Institutes of Health, Baltimore, MD Department of Pediatrics, Johns Hopkins Medical Institutions,...
We describe five patients with Schwartz-Jampel syndrome (SJS) examined at the outpatient service for neuromuscular disorders at our Institution from 1996 to 1999 with the objective of emphasizing the characteristic dysmorphic phenotype of SJS and its different clinical forms. Two cases presented SJS-type 1A, two had SJS-type 1B and one manifested SJS-type 2. Two boys with 3 and 13 years of age ...
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