1.
J Assoc Physicians India
; 68(8): 89-90, 2020 Aug.
Article
in English
| MEDLINE
| ID: mdl-32738848
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.