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 (Madelungs deformity). Causes
It is caused by mutations in the short-stature homeobox gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes, at band Xp22.33 or Yp11.32.SHOX gene deletions have been identified as the major cause of Leri–Weill syndrome.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. Treatment
History
LWD was first described in 1929 by André Léri and Jean A. Weill. References


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Well demarcated red plaques with silvery scaling - the classic lesions of psoriasis are seen on the dorsum of the hand. Diagnosis
When faced with monoarthritis, one of the main decisions to make is whether to perform a joint aspirate by inserting a needle into the affected joint and removing some fluid for microscopic analysis. This decision is largely taken on inflammatory markers in blood tests (e.g. CRP), fever and the clinical picture. The main use of aspiration is to detect bacteria and neutrophil granulocytes (in septic arthritis) and crystals (crystal arthropathies). Treatment
See also
Gout
Pseudogout
Septic arthritis
Osteoarthritis

References


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