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A case of Schwartz-Jampel syndrome
06 January 2005
05 June 2005
29 July 2015 (online)
Schwartz-Jampel syndrome, also known as chondrodystrophica myotonia or myotonic myopathy is a rare, autosomal recessive disorder resulting from a defect in chromosome 1p36.1. Around 50 cases have been reported in literature. We present a 3 years old female with Schwartz-Jampel syndrome to highlight the benign course of this disease in some children.