Years ago, I met an 7 year young lady who came to my office with no complaints. Mom brought her even though she had no hand or wrist pain and no functional limitations. The reason for the visit was a strong family history of Madelungs deformity (mom and sister). There was no clinical evidence of a syndrome and the patient was of normal height. However, xrays did confirm very early, quite subtle Madelungs deformity of both wrists.
First, most of the time we do not have the opportunity to see patients so early. The typical patient with Madelungs deformity presents at 11- 12 years of age with wrist deformity and perhaps some motion limits and pain. Occasionally, a happenstance xray (maybe for a trauma) will pick this up or, as in this patient, a family history will lead a family to bring a younger brother or sister in for evaluation. The classic example is a patient with Leri Weill dyschondrosteosis which includes Madelungs deformity, short stature, and short forearms (a form of dwarfism). These patients have a more obvious clinical presentation and have a known genetic issue with the SHOX gene as noted in this link. Another great site is OMIM.
Second, the question of etiology is not completely clear. We know that the distal radius growth plate (a specific part- ulnar and palmar) does not grow as it should. This is likely the primary issue. The role of a ligament tether is less clear. This was first discussed by Dr. Vickers in Australia and we typically call the abnormal ligament by his name- the Vickers Ligament. This structure is really a thickened short radiolunate ligament (a normal structure). Whether this ligament is a cause of the radius deformity in Madelungs deformity by acting as a tether or whether it is a secondary effect is unclear. However, there is some evidence that release of this ligament might be helpful. This report is helpful and there is much anecdotal evidence as well.
This article describes a small group of patients treated with an open excision of the ligament without progression of the deformity. My personal experience is mixed. Sometimes this can work, other times it has not been successful. Nonetheless, because this operation is straightforward, safe, and allows a fast recovery, it makes sense for many families as it offers the chance to avoid the bigger operations often required as seen here: Madelungs Surgery
The other option is an arthroscopic release of this ligament- this further simplifies the operation, the scarring, and the recovery. We can release the short radiolunate ligament through this minimally invasive approach through pokehole incisions that disappear.
This patient was seen as a 7- year old. There were subtle xray changes as you can see here.
|Early Madelungs deformity of the left wrist, findings from 2015|
In some cases, the xrays are normal. MRI can be helpful in these situations to assess the growth plate and a potentially abnormal short radiolunate ligment (Vickers ligament when it is thickened/ abnormal).
The now 12 year old patient returned for a check up without complaint. She is now 5 years after her small surgery. No pain, no deformity. Radiographs continue to show mild Madelungs. We will continue to follow this patient for 2 additional years while her growth plates are open.
Thanks for reading,