A case of Schwartz-Jampel syndrome

Article type: Research Article

Authors: Sharma, Natwar | Viswanathan, Venkataraman | Gowrishankar, Kalpana

Affiliations: Kanchi Kamakoti CHILDS Trust Hospital, Chennai, India

Note: [] Correspondence: Dr. Natwar Sharma, Post Graduate in Pediatrics, Kanchi Kamakoti CHILDS, Trust Hospital, 12 a, Nageswara Road, Nungambakkam Chennai – 600034, India. E-mail: drnutties2000@yahoo.co.in

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.

Keywords: Schwartz-Jampel syndrome, chondrodystrophic myotonia, myotonic myopathy

Journal: Journal of Pediatric Neurology, vol. 4, no. 2, pp. 135-137, 2006