title: Schwartz Jampel syndrome in children.
abstract: Schwartz Jampel syndrome is a rare neuromuscular disorder with autosomal recessive inheritance characterized by myotonia, distinctive facial features including blepharospasm and a puckered chin, short stature and skeletal dysplasia. We report six Indian children with this disorder presenting with different clinical manifestations.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, 3rd floor, Teaching Block, All India Institute of Medical Sciences, Ansari Nagar, New Delhi 110 029, India.
authors.forename: Ravindra
authors.initials: R
authors.lastname: Arya
authors.forename: Suvasini
authors.initials: S
authors.lastname: Sharma
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.forename: Sushil
authors.initials: S
authors.lastname: Kumar
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: Sheffali
authors.initials: S
authors.lastname: Gulati
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000503:physiopathology*; D011859:Radiography