Schwartz Jampel Syndrome (SJS)-One in a Million Syndrome.
Journal
The Journal of the Association of Physicians of India
ISSN: 0004-5772
Titre abrégé: J Assoc Physicians India
Pays: India
ID NLM: 7505585
Informations de publication
Date de publication:
Aug 2020
Aug 2020
Historique:
entrez:
3
8
2020
pubmed:
3
8
2020
medline:
28
8
2020
Statut:
ppublish
Résumé
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.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
89-90Informations de copyright
© Journal of the Association of Physicians of India 2011.