Léri-Weill dyschondrosteosis
- Léri-Weill dyschondrosteosis
Infobox_Disease
Name = PAGENAME
Caption =
DiseasesDB = 31950
ICD10 =
ICD9 = ICD9|756.59
ICDO =
OMIM = 127300
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =
Léri-Weill dyschondrosteosis or LWD is a rare genetic disorder which results in dwarfism with short forearms and legs (mesomelic dwarfism) and a particular deformity of the forearms (Madelung's deformity).
Causes
It is often caused by mutations in the SHOX gene found in the pseudoautosomal region PAR1 of the X and Y chromosomes.
History
LWD was first described in 1929 by André Léri and Jean A. Weill. [WhoNamedIt|synd|1662] [A. Léri, J. A. Weill. "Une affection congénitale et symétrique du développement osseux. La dyschondrostéose."Bulletins et memoires de la Société medicale des hôpitaux de Paris, 1929, 53: 1491-1494.]
References
Wikimedia Foundation.
2010.
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