Leri-Weill dyschondrosteosis

Leri-Weill dyschondrosteosis2016-11-26T21:18:47+00:00

Leri-Weill dyschondrosteosis

EMBRYOLOGY, ORTHOPAEDICS 

Definition An autosomal dominant (OMIM:127300) form of skeletal dysplasia characterised by moderately short stature largely due to short mesomelic limb segments, which is often associated with Madelung deformity of the wrist

*Madelung deformity is defined by bowing of the radius and dorsal dislocation of the distal ulna. 

Synonym Dyschondrosteosis 

Molecular pathology Defects of

• SHOX, which controls fundamental aspects of growth and development,

and 

• SHOXY, which is the product of a pseudoautosomal region, short stature homeobox—Y-linked, 

cause Leri-Weill dyschondrosteosis. 

References http://www.uniprot.org/uniprot/O15266

http://omim.org/entry/127300

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