Typical clinical presentation consists of a short forearm, anterior-ulnar bow of the radius and a forward subluxation of the hand on the forearm. As mentioned before, the severity of the disorder varies greatly, which also leads to a spectrum of presentation. Genetics
Leri-Weill dyschondrosteosis is a pseudoautosomal dominant disorder which occurs more frequently in females and is due to a mutation,  deletion or duplication of the SHOX gene. The SHOX gene plays a particularly important role in the growth and maturation of bones in the arms and legs. The SHOX gene is located within band Xp22.3 of the pseudoautosomal region of the X chromosome, which escapes X-inactivation. Homozygous SHOX gene mutations result in Langer mesomelic dysplasia. Pathogenesis
Madelung deformity of the wrist is caused by a growth disturbance in the inferior volar part of the epiphysial growth plate in the distal radius, resulting in a volar placed slope of the lunate facet and scaphoid facet. This produces volar translation of the hand and wrist. The ulna continues growing straight, resulting in a dorsally prominent distal ulna. It occurs predominantly in adolescent females, who present with pain, decreased range of motion, and deformity. It often has a genetic cause and is associated with mesomelic dwarfism and a mutation on the X chromosome. Attempts can be made to treat the deformity surgically by addressing the deforming bone and fibrous bands called "Vickers ligament". This is an abnormal ligament formed between the Lunate bone of the wrist and the radius and is found in 91% of cases of Madelungs deformity.
Diagnosis
Diagnosis is normally confirmed by X-rays. Treatment
Non-surgical
First options for treatment are conservative, using hot or cold packs, rest and NSAIDs at first. If no improvement is made, a splint or brace can be used to keep the deviated arm straight. When none of the conservative treatments work surgical intervention is designated. Surgical
Pediatrics
Physiolysis
Purpose of the treatment is the removal of the epiphysis that causes the abnormal growth of the wrist. This is done by making a small incision at the volar-radial side. This approach passes the Flexor pollicis longus and Palmaris longus and leaves the Median nerve and Radial artery protected. Then the Pronator quadratus muscle is found and detached from the radius. Here a cut into the bone will find the abnormal epiphysis. When the epiphysis is clearly defined more bone is removed so the radius is in its normal position and prevents a new bone bar from forming. This is the end of the physiolisis. This is always combined with a Vickers Ligament release.Dome osteotomy
Purpose of this treatment option is to straighten the abnormal radius. To do this, an 8 cm incision is made from the wrist crease at the palmair radial side. The approach is made passing the Flexor carpi radialis with detachment of the Pronator quadratus muscle from the radius. Now the Vickers ligament release is done. After this the periosteum is elevated and a crescent-shaped osteotomy, concave at the end, is marked on the bone. Now the radius is cut dome shaped and straightened.