title: Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate.
abstract: Leri-Weill syndrome (LWS) is a dominant (pseudoautosomal) skeletal dysplasia with mesomelic short stature and bilateral Madelung deformity, due to dyschondrosteosis of the distal radius. It results from the loss of one copy of the Short Stature Homeobox Gene (SHOX) from the tip of the short arm of the X or Y chromosome. SHOX molecular testing enabled us to evaluate the histopathology of the radial physis in LWS patients with a documented SHOX abnormality. A widespread disorganisation of physeal anatomy was revealed with disruption of the normal parallel columnar arrangement of chondrocytes. Tandem stacking of maturing chondrocytes within columns was replaced by a side-by-side arrangement. The presence of hypertrophic osteoid with micro-enchondromata in the radial metaphysis suggests abnormal endochondral ossification. The Vickers' ligament was confirmed to blend with the triangular fibrocartilage complex (TFCC). This histopathological study demonstrates that the zone of dyschondrosteosis in LWS is characterised by marked disruption of normal physeal chondrocyte processes and that a generalised physeal abnormality is present.
authors.affiliation: Endocrine Research Unit, Royal Children's Hospital Foundation Research Centre, Royal Children's Hospital, Brisbane, Queensland, Australia. Craig_Munns@health.qld.gov.au
authors.forename: C F
authors.initials: CF
authors.lastname: Munns
authors.forename: I A
authors.initials: IA
authors.lastname: Glass
authors.forename: R
authors.initials: R
authors.lastname: LaBrom
authors.forename: M
authors.initials: M
authors.lastname: Hayes
authors.forename: S
authors.initials: S
authors.lastname: Flanagan
authors.forename: M
authors.initials: M
authors.lastname: Berry
authors.forename: V J
authors.initials: VJ
authors.lastname: Hyland
authors.forename: J A
authors.initials: JA
authors.lastname: Batch
authors.forename: G E
authors.initials: GE
authors.lastname: Philips
authors.forename: D
authors.initials: D
authors.lastname: Vickers
mesh_terms: D000293:Adolescent; D001827:Body Height; D002648:Child; D002869:Chromosome Aberrations; D005260:Female; D005500:Follow-Up Studies; D006132:Growth Plate / Q000473:pathology*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics / Q000473:pathology* / Q000601:surgery*; D011884:Radius / Q000002:abnormalities* / Q000601:surgery; D016059:Range of Motion, Articular; D000074122:Short Stature Homeobox Protein; D016896:Treatment Outcome; D014955:Wrist Joint / Q000503:physiopathology
chemical_list: D018398:Homeodomain Proteins; C106071:SHOX protein, human; D000074122:Short Stature Homeobox Protein