title: Schwartz-Jampel syndrome.
abstract: This is a report of a very rare case of Schwartz Jampel syndrome, with few unusual findings, in a 13 years girl from Nepal, who concurrently also had superotemporal subluxation of the crystalline lens along with blepharophimosis syndrome.
authors.affiliation: Department of Ophthalmology, Gandaki Medical College, Pokhara, Nepal. pbs_dinku@yahoo.com
authors.forename: Pradeep
authors.initials: P
authors.lastname: Bastola
mesh_terms: D000293:Adolescent; D016569:Blepharophimosis / Q000150:complications* / Q000175:diagnosis; D002874:Chromosome Mapping; D004576:Electromyography; D005149:Facial Expression; D005260:Female; D006801:Humans; D007906:Lens Subluxation / Q000150:complications* / Q000175:diagnosis; D010009:Osteochondrodysplasias / Q000150:complications* / Q000175:diagnosis*