Citation, DOI, disclosures and article data
Citation:
Weerakkody Y, Thapa G, Bell D, et al. Leri-Weill syndrome. Reference article, Radiopaedia.org (Accessed on 19 Feb 2025) https://doi.org/10.53347/rID-8827
The Leri-Weill syndrome is a rare autosomal dominant dyschondrosteosis characterized by mesomelic shortening of limbs.
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.
Plain radiograph
History and etymology
First described by the renowned French neurologist Andre Leri (1875-1930) 5 and J. Weill in 1929.
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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
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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
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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
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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
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5. Turgut AÇ, Tubbs RS, Turgut M. André Léri (1875-1930 AD) and his legacy to neuroscience. (2018) Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery. doi:10.1007/s00381-018-3801-2 - Pubmed
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