Affiliations: Kanchi Kamakoti CHILDS Trust Hospital, Chennai,
Note:  Correspondence: Dr. Natwar Sharma, Post Graduate in Pediatrics,
Kanchi Kamakoti CHILDS, Trust Hospital, 12 a, Nageswara Road, Nungambakkam
Chennai – 600034, India. E-mail: [email protected]
Abstract: 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.