Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate.

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.

[1]  I. Glass,et al.  The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. , 2000, Human molecular genetics.

[2]  H. Knoblauch,et al.  Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome , 2000, European Journal of Human Genetics.

[3]  D. Stevens,et al.  Hormone regulation of chondrocyte differentiation and endochondral bone formation , 1999, Molecular and Cellular Endocrinology.

[4]  Arnold Munnich,et al.  SHOX mutations in dyschondrosteosis (Leri-Weill syndrome) , 1998, Nature Genetics.

[5]  Peter J. Scambler,et al.  Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis , 1998, Nature Genetics.

[6]  J. Ellison,et al.  PHOG, a candidate gene for involvement in the short stature of Turner syndrome. , 1997, Human molecular genetics.

[7]  A. Rosenthal,et al.  Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome , 1997, Nature Genetics.

[8]  Kurt Wüthrich,et al.  Homeodomain-DNA recognition , 1994, Cell.

[9]  D. Vickers,et al.  Madelung Deformity: Surgical Prophylaxis (Physiolysis) During the Late Growth Period by Resection of the Dyschondrosteosis Lesion , 1992, Journal of hand surgery.

[10]  G. Edelman,et al.  Cell adhesion molecules as targets for Hox genes: neural cell adhesion molecule promoter activity is modulated by cotransfection with Hox-2.5 and -2.4. , 1992, Proceedings of the National Academy of Sciences of the United States of America.

[11]  J. Golding,et al.  Madelung's disease of the wrist and dyschondrosteosis. , 1976, The Journal of bone and joint surgery. British volume.

[12]  R. Hawkins,et al.  Tension studies of human knee ligaments. Yield point, ultimate failure, and disruption of the cruciate and tibial collateral ligaments. , 1976, The Journal of bone and joint surgery. American volume.

[13]  A. Henry,et al.  Madelung's deformity. A clinical and cytogenetic study. , 1967, The Journal of bone and joint surgery. British volume.

[14]  R. Herdman,et al.  Dyschondrosteosis. The most common cause of Madelung's deformity. , 1966, The Journal of pediatrics.

[15]  L. Langer.  DYSCHONDROSTEOSIS, A HEREDITABLE BONE DYSPLASIA WITH CHARACTERISTIC ROENTGENOGRAPHIC FEATURES. , 1965, The American journal of roentgenology, radium therapy, and nuclear medicine.

[16]  J. I. Anton,et al.  MADELUNG'S DEFORMITY. , 1938, Annals of surgery.