Leri-Weill syndrome

dys·chon·dros·te·o·sis

(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]

Leri-Weill syndrome

(-vĕl′)

Leri,

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

Weill,

Jean A., French physician, 1903–.
Leri-Weill disease - Synonym(s): dyschondrosteosis
Leri-Weill syndrome - Synonym(s): dyschondrosteosis
References in periodicals archive ?
About 5 percent of the patients with idiopathic short stature, and 80 percent of the patients with Leri-Weill syndrome, had mutations in the segment either including or around the SHOX gene.
The researchers said that some patients had an intact SHOX gene, but an unexpectedly high number of mutations in its enhancer sequences: for 26 percent of patients with SHOX deficiency and idiopathic short stature and for 45 percent of patients with SHOX deficiency and Leri-Weill syndrome, the disease could be attributed solely to a genetic mutation of the enhancer sequence.
In addition, research has shown that SHOX gene defects are present in the majority of individuals with Leri-Weill syndrome and in some children previously classified as having idiopathic short stature.