title: Windswept deformity in a patient with Schwartz-Jampel syndrome.
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.
authors.affiliation: Orthopaedic Hospital of Speising, Speisinger Strasse 109, Vienna, Austria. ali.alkaissi@osteologie.at
authors.forename: Ali
authors.initials: A
authors.lastname: Al Kaissi
authors.forename: Rudolf
authors.initials: R
authors.lastname: Ganger
authors.forename: Klaus
authors.initials: K
authors.lastname: Klaushofer
authors.forename: Franz
authors.initials: F
authors.lastname: Grill
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D001706:Biopsy; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D005838:Genotype; D006801:Humans; D016916:Joint Deformities, Acquired / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D007719:Knee Joint; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009989:Orthotic Devices; D010009:Osteochondrodysplasias / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D010027:Osteotomy / Q000379:methods*