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Schwartz-Jampel syndrome: report of one case.

Abstract
We report a case of Schwartz-Jampel syndrome in a 2-year-9-month-old Taiwanese girl and her clinical response to treatment. She had a history of generalized muscle stiffness and hypertrophy since birth. Clinical and electromyographic myotonia were noted. Other clinical features included short stature, unusual facial appearance, ophthalmoplegia, elbow joint contractures, and developmental hip dysplasia. Muscle stiffness and myotonia improved after infusion of lidocaine. She then received oral mexiletine and the symptoms significantly improved.
AuthorsMing-Tao Yang, Chih-Chao Yang, Li-Wen Chu, Wang-Tso Lee, Chainllie Young, Peng-Jung Wang
JournalActa paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi (Acta Paediatr Taiwan) 2002 Jul-Aug Vol. 43 Issue 4 Pg. 220-3 ISSN: 1608-8115 [Print] China (Republic : 1949- )
PMID12238912 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Mexiletine
  • Lidocaine
Topics
  • Child, Preschool
  • Female
  • Humans
  • Lidocaine (therapeutic use)
  • Mexiletine (therapeutic use)
  • Osteochondrodysplasias (diagnosis, drug therapy, physiopathology)

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