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Leri-Weill dyschondrosteosis
Pathology:
- skeletal dysplasia
Genetics:
- dominant
- associated with defects in SHOX
Clinical manifestations:
- moderate short stature predominantly because of short mesomelic limb segments
- often associated with the Madelung deformity of the wrist, comprising bowing of the radius & dorsal dislocation of the distal ulna
General
skeletal dysplasia
Database Correlations
OMIM 127300
References
OMIM :accession 127300