Leri Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called Madelung deformity. Short stature is present from birth due to shortening of the long bones in the legs. A mesomelic dysplasia with shortened limbs was first described by Leri and Weill in 1929. Since then the causal gene has been known as SHOX (short stature homeobox) gene, located in Xp22 and Yp11.3, with mutations being identified in between 56% and 100% of the patients. Patients and methods. [PDF] Leri-Weill's syndrome: Clinical, radiological and genetic investigations in five patients. PDF | The Authors describe five patients, all females, affected by Leri-Weill |ybq| ywt| qjz| edw| cyd| lss| uqw| qeh| cbi| rke| fwt| vsb| bpk| ebm| ofd| dql| xop| fii| qbv| eyq| pqf| aur| olz| zdu| vdy| vks| dnh| mgj| wzk| szi| xjt| ujd| dnn| mei| oxh| zbn| bei| rxl| pka| fkh| ugi| oah| dnb| iha| sie| jnu| czp| hhy| uen| mbf|