Patients present with short stature because of shortening of the forelegs (tibia/fibula defects) and forearms (with Madelung deformity). There is a higher prevalence in females 4.
A majority of individuals have a mutation in the human homeobox (SHOX) gene located on the X (Xp22.3) and Y (Yp11.2) chromosomes 1.
- individuals have short stature
- forearm plain films often show features of a Madelung dyschondrosteosis or Madelung deformity.
History and etymology
First described by A. Leri and J. Weill in 1929.
- 1. Rao E, Blaschke RJ, Marchini A et-al. The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. Hum. Mol. Genet. 2001;10 (26): 3083-91. doi:10.1093/hmg/10.26.3083 - Pubmed citation
- 2. Mohan V, Gupta RP, Helmi K et-al. Leri-Weill syndrome (dyschondrosteosis): a family study. J Hand Surg Br. 1988;13 (1): 16-8. Pubmed citation
- 3. Poznanski AK, Holt JF. The carpals in congenital malformation syndromes. Am J Roentgenol Radium Ther Nucl Med. 1971;112 (3): 443-59. Pubmed citation
- 4. Cormier-Daire V, Huber C, Munnich A. Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome). Am. J. Med. Genet. 2001;106 (4): 272-4. doi:10.1002/ajmg.10228 - Pubmed citation