Windswept deformity in a patient with Schwartz-Jampel syndrome

Swiss Med Wkly. 2012 Mar 19:142:w13519. doi: 10.4414/smw.2012.13519. eCollection 2012.

Abstract

A 13-year-old boy presented with the overall phenotypic and genotypic characterisation of Schwarz-Jampel syndrome (SJS). Windswept deformity was a major orthopaedic abnormality. Prompt diagnostic measures were applied to this patient associated with several orthopaedic procedures to move closer to acceptable appearance and function.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Adolescent
  • Biopsy
  • Diagnosis, Differential
  • Follow-Up Studies
  • Genotype
  • Humans
  • Joint Deformities, Acquired / diagnosis
  • Joint Deformities, Acquired / etiology*
  • Joint Deformities, Acquired / therapy
  • Knee Joint*
  • Male
  • Muscle, Skeletal / pathology
  • Orthotic Devices*
  • Osteochondrodysplasias / complications*
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics
  • Osteotomy / methods*