Windswept deformity in a patient with Schwartz-Jampel syndrome1

oleh: Ali Al Kaissi, Rudolf Ganger, Klaus Klaushofer, Franz Grill

Format: Article
Diterbitkan: SMW supporting association (Trägerverein Swiss Medical Weekly SMW) 2012-03-01

Deskripsi

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.