Léri–Weill dyschondrosteosis

Léri–Weill dyschondrosteosis
File:Autosomal dominant - en.svg
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Léri–Weill dyschondrosteosis or LWD is a rare pseudoautosomal dominant genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a bayonet-like deformity of the forearms (Madelung's deformity).<ref name="pmid16175500">,

 A Novel Class of Pseudoautosomal Region 1 Deletions Downstream of SHOX Is Associated with Léri–Weill Dyschondrosteosis, 
 Am. J. Hum. Genet., 
 
 Vol. 77(Issue: 4),
 pp. 533–44,
 DOI: 10.1086/449313,
 PMID: 16175500,
 PMC: 1275603,</ref>

Causes

It is caused by mutations in the SHOX gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes, at band Xp22.33 or Yp11.32.<ref name="pmid17091221">,

 Identification and characterization of different SHOX gene deletions in patients with Leri–Weill dyschondrosteosys by MLPA assay, 
 J. Hum. Genet., 
 2007,
 Vol. 52(Issue: 1),
 pp. 21–7,
 DOI: 10.1007/s10038-006-0074-5,
 PMID: 17091221,</ref>

SHOX gene deletions have been identified as the major cause of Leri–Weill syndrome.<ref name="pmid18322641">,

 Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis, 
 J. Hum. Genet., 
 2008,
 Vol. 53(Issue: 5),
 pp. 454–9,
 DOI: 10.1007/s10038-008-0269-z,
 PMID: 18322641,</ref>

Leri–Weill dyschondrosteosis is characterized by mesomelic short stature, with bowing of the radius more so than the ulna in the forearms and bowing of the tibia while sparing the fibula.

Diagnosis

Diagnosis is made following genetic blood testing.

History

LWD was first described in 1929 by André Léri and Jean A. Weill.<ref>synd/1662 at Who Named It?</ref><ref>,

 Une affection congénitale et symétrique du développement osseux. La dyschondrostéose, 
 Bulletins et memoires de la Société medicale des hôpitaux de Paris, 
 1929,
 Vol. 53,
 pp. 1491–1494,</ref>

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Léri–Weill dyschondrosteosis

• File:Autosomal dominant - en.svg