File:Schwartz Jampel syndrome OMIM 255800.jpg

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Description The patient with Schwartz-Jampel syndrome (OMIM#255800) presenting blepharophimosis, pursed lips, low-set ears, and stiffness of facial expression. Note the bowing of the tibiae, valgus deformities of the ankles, and pes planus. Also note the muscle hypertrophy and mild chest deformity.
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Source Ho NC, Sandusky S, Madike V, Francomano CA, Dalakas MC. Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report. BMC Neurol. 3, 3. 2003. PMID 12839625.
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2007-09-23T09:05:41Z User:Filip em 1196×1657 199.17Kb {{Information |Description=The patient with Schwartz-Jampel syndrome (OMIM#255800) presenting blepharophimosis, pursed lips, low-set ears, and stiffness of facial expression. Note the bowing of the tibiae, valgus deformities of the ankles, and pes planus.

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current05:41, 12 June 2009Thumbnail for version as of 05:41, 12 June 20091,196 × 1,657 (199 KB)BetacommandBot (talk | contribs)move approved by: User:Snowmanradio uThis image was moved from File:SJS.jpg {{Information |Description=The patient with Schwartz-Jampel syndrome (OMIM#255800) presenting blepharophimosis, pursed lips, low-set ears, and stiffness of facial expr

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