A rare cause of short stature: Leri Weill dyschondrosteosis

Genet Couns. 2003;14(2):215-20.


Short stature is a common pediatric problem. It may occur rarely as a result of genetic disorders. Leri-Weill dyschondrosteosis (LWD) is one of the rare genetic disorders of skeletal system resulting with short stature. It is characterized by shortness of stature and Madelung deformity of the wrist. Here we report a case of LWD with some skeletal stigmas of Turner syndrome. She has also depressed medial tibial condyles that to our knowledge, has not previously been reported in LWD.

Publication types

  • Case Reports

MeSH terms

  • Body Height*
  • Bone Diseases / diagnosis*
  • Bone Diseases / genetics*
  • Carpal Bones / abnormalities
  • Child
  • Diagnosis, Differential
  • Female
  • Growth Disorders / diagnosis*
  • Growth Disorders / genetics*
  • Humans
  • Karyotyping
  • Metacarpus / abnormalities
  • Radius / abnormalities
  • Syndrome
  • Tibia / abnormalities
  • Ulna / abnormalities