Schwartz Jampel Syndrome (SJS)-One in a Million Syndrome.

Schwartz Jampel Syndrome (SJS)-One in a Million Syndrome. J Assoc Physicians India. 2020 Aug;68(8):89-90 Authors: Dave M, Lavanya SR, Khamesra R, Bapat P, Prasath A Abstract Schwartz Jampel syndrome is a very rare genetically heterogenous disorder characterized by myotonia, typical facies, growth retardation and osteoarticular changes. Prevelance of this syndrome is <1 in 100000. 150 cases have been reported in medical literature so far. We hereby report this rare syndrome in neurology. PMID: 32738848 [PubMed - as supplied by publisher]
Source: Journal of the Association of Physicians of India - Category: General Medicine Tags: J Assoc Physicians India Source Type: research