Article Text

PDF

Schwartz-Jampel syndrome (chondrodystrophic myotonia).
  1. D Viljoen,
  2. P Beighton
  1. Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa.

    Abstract

    Schwartz-Jampel syndrome is a rare autosomal recessive disorder. Joint contractures, generalised myotonia, skeletal anomalies, and facial dysmorphism are common features; malignant hyperthermia is a potentially lethal complication during anaesthesia.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.