Schwartz-Jampel syndrome

Kathmandu Univ Med J (KUMJ). 2010 Jul-Sep;8(31):348-51. doi: 10.3126/kumj.v8i3.6227.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Blepharophimosis / complications*
  • Blepharophimosis / diagnosis
  • Chromosome Mapping
  • Electromyography
  • Facial Expression*
  • Female
  • Humans
  • Lens Subluxation / complications*
  • Lens Subluxation / diagnosis
  • Osteochondrodysplasias / complications*
  • Osteochondrodysplasias / diagnosis*