Also found in: Acronyms.


(dis'kon-dros'tē-ō'sis), [MIM*127300]
A skeletal dysplasia, more severe in females and with a female preponderance, characterized by bowing of radius, dorsal dislocation of the distal ulna with limited movement of the elbow and wrist (wrist deformity is called Madelung deformity), and mesomelic dwarfism; dominant inheritance, caused by mutation in the short stature homeobox gene (SHOX) on the pseudoautosomal region of Xp. Langer mesomelic dysplasia, the homozygous form of dyschondrosteosis, is also caused by homozygous mutations in the SHOX gene.
[dys- + G. chondros, cartilage, + osteon, bone, + -osis, condition]
Farlex Partner Medical Dictionary © Farlex 2012


André, French orthopedic surgeon, 1875-1930.
Leri pleonosteosis - Synonym(s): dyschondrosteosis
Leri sign - voluntary flexion of the elbow is impossible in a case of hemiplegia when the wrist on that side is passively flexed.
Leri-Weill disease - Synonym(s): dyschondrosteosis
Leri-Weill syndrome - Synonym(s): dyschondrosteosis
Marie-Leri syndrome - see under Marie, Pierre


Jean A., French physician, 1903–.
Leri-Weill disease - Synonym(s): dyschondrosteosis
Leri-Weill syndrome - Synonym(s): dyschondrosteosis
Medical Eponyms © Farlex 2012
References in periodicals archive ?
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet.
Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome.
SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability Clin Endocrinol (Oxf) 2007;66:130-135.
Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.
Heterozygous carriers of SHOX mutations may be minimally affected or may present with disproportionately short stature, Madelung deformity and other radiographic findings, as in Leri-Weill dyschondrosteosis (LWD).
The prominent Madelung deformity (shortening and bowing of the radii and triangulation of the distal radial epiphysis producing an ulnar slant to the articular surface) of the distal radius and ulna is a well-described feature of dyschondrosteosis (Leri-Weill disease).