You are in: eMedicine Specialties > Orthopedic Surgery > PEDIATRICS Madelung DeformityArticle Last Updated: Mar 4, 2008AUTHOR AND EDITOR INFORMATIONSection 1 of 12
  Author: Paul M Lamberti, MD, Consulting Surgeon, Department of Orthopedic Surgery, Orthopedic and Spine Surgery Associates, LTD Paul M Lamberti is a member of the following medical societies: American Society for Surgery of the Hand Coauthor(s): Terry R Light, MD, Dr Wm M Scholl Professor and Chair, Department of Orthopedic Surgery, Loyola University School of Medicine; Consulting Surgeon, Department of Orthopedic Surgery and Rehabilitation, Loyola University Medical Center Editors: Charles T Mehlman, DO, MPH, Director, Musculoskeletal Outcomes Research, Associate Professor, Division of Pediatric Orthopaedic Surgery, Cincinnati Children's Hospital Medical Center; Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine; George H Thompson, MD, Professor of Orthopedic Surgery and Pediatrics, Department of Pediatric Orthopedic Surgery, Case Western Reserve University; Director, Rainbow Babies and Children's Hospital; Dinesh Patel, MD, FACS, Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital; Dennis P Grogan, MD, Clinical Professor, Department of Orthopedic Surgery, University of South Florida College of Medicine; Chief of Staff, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa Author and Editor Disclosure Synonyms and related keywords: progressive subluxation of the wrist, idiopathic curvature of the radius, MD, wrist pain, wrist deformity, spontaneous forward subluxation of the hand, Leri-Weill dyschondrosteosis, multiple hereditary osteochondromatosis, Ollier disease, achondroplasia, multiple epiphysial dysplasia, mucopolysaccharidoses, mucopolysaccharidosis, Hurler syndrome, Morquio syndrome INTRODUCTIONSection 2 of 12
  Madelung deformity (MD) of the wrist is characterized by a growth disturbance in the volar-ulnar distal radial physis that results in a volar and ulnar tilted distal radial articular surface, volar translation of the hand and wrist, and 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 etiology and is associated with mesomelic dwarfism and a mutation on the X chromosome. The deformity can be treated surgically by addressing the deforming bony and ligamentous lesions, correcting the abnormal position of the radial articular surface, and equalizing the longitudinal levels of the distal radius and ulna.1, 2 History of the ProcedureOtto W. Madelung described the wrist deformity bearing his name at the Seventh German Surgical Congress of 1878 as "Die spontane subluxation der hand nocte vorne" or "spontaneous forward subluxation of the hand." Though previous authors had described lesions that we might now term Madelung deformity, the ascribed etiologies were inconsistent. Several authors prior to Madelung, including Dupuytren in 1834, Nelaton in 1847, and Malgaigne in 1855, had described entities termed carpus curvus, radius curvus, progressive subluxation of the wrist, manus valgus, manus furca, and idiopathic progressive curvature of the radius. Dupuytren's description in 1834 was based on a quotation from Bégin, who attributed the deformity to a repetitive occupational injury. Nelaton vaguely described an anatomic specimen with a deformity suggestive of MD. Malgaigne also described a good example of MD. However, Madelung first accurately described it clinically and proposed both an etiology and treatment. 3 Contributions to French, German, and Italian literature concerning MD between 1880 and 1908 were purely descriptive, without agreement regarding etiology, pathogenesis, or treatment. During the same period, however, Madelung's work in British and American literature was completely disregarded. One of the first papers in American literature authored by DeWitt Stetten in 1909, a case report and review of European literature, only perpetuated inaccurate information.4 Anton, Reitz, and Spiegel published the first comprehensive paper in American literature concerning MD in 1938 in the Annals of Surgery.1 They collected and tabulated 172 cases of MD and gave a detailed case history of one case. Clinical, radiographic, pathologic, epidemiological, and etiologic theories regarding MD were presented. They attempted to create a new classification system and even to rename the deformity from its eponym to one that was more descriptive. Their main purpose, however, was to dispel inaccurate information that had been presented in previous reports. FrequencySeveral hundred cases of MD have been presented in the literature since its first description. However, no published reports exist on the actual frequency of MD in the population.5 EtiologyHenry and Thorburn6 classified MD into 4 different etiologic groups, as follows: (1) posttraumatic, (2) dysplastic, (3) chromosomal or genetic (Turner syndrome), and (4) idiopathic or primary. The posttraumatic deformity has been found following repetitive trauma or following a single event that disrupts growth of the distal radial ulnar-volar physis. Bone dysplasias associated with MD include multiple hereditary osteochondromatosis, Ollier disease, achondroplasia, multiple epiphysial dysplasias, and the mucopolysaccharidoses (eg, Hurler and Morquio syndromes). Secondary causes of wrist deformity that may mimic MD include sickle-cell disease, infection, tumor, and rickets. The most important dysplasia associated with MD, however, is dyschondrosteosis (see Images 1-2). 7, 8, 9, 10 Dyschondrosteosis is a form of mesomelic dwarfism associated with MD that was first described by Leri and Weill in 1929. Dyschondrosteosis is characterized by variable short stature, short forearms, and tibial/fibular shortening. Specifically, height is less than the 25th percentile, the radius is 75% of the length of the humerus, and the tibia is 85% of the length of the femur. Dyschondrosteosis becomes more pronounced clinically during adolescence. No other abnormalities are commonly associated. With such a similarity between primary MD and Leri-Weill dyschondrosteosis, the reason many authors have described them as a single entity is apparent. However, many children with unilateral and bilateral MD have normal stature and no other characteristic of dyschondrosteosis. Therefore, it is reasonable to describe primary MD as a separate, but related, condition. To differentiate primary MD from dyschondrosteosis, Felman and Kirkpatrick12 suggested the following criteria: Primary MD can be defined as occurring in a child above the 25th percentile in height with no family history of dyschondrosteosis and no history of other secondary causes. Conversely, a patient who is less than 5 feet tall at skeletal maturity, has proximal involvement of the radius, and has a relatively short tibia and fibula may have mesomelic dwarfism. PathophysiologyOne third of cases of MD are transmitted in an autosomal dominant fashion. The condition has a variable expression and 50% penetrance. MD is bilateral in 50% of cases and is primarily found in females. A number of affected kindreds of patients with MD have been described. Numerous cases of multiple patients with MD within families have been reported.13, 14 A recent report details 5 generations of family members with bilateral MD without signs of dyschondrosteosis. Finally, a primary chromosomal association with MD has been observed in patients with Turner syndrome (karyotype XO). MD was the presenting sign of Turner syndrome in one young girl, while Henry and Thorburn diagnosed Turner syndrome incidentally when studying a series of patients with MD who underwent cytogenetic evaluation.6 Recently, molecular genetic studies clarified the association of the female predominant MD, dyschondrosteosis, and the missing X chromosome in Turner syndrome. The idea that an X chromosomal translocation causing dyschondrosteosis was first proposed in 1985. An X chromosomal translocation also was found to be associated with MD in 1997. In 1998, groups from London, England, and Switzerland established a marker that was linked to the pseudoautosomal region (PAR1) of the X and Y chromosomes. Within families affected by a short stature dysplasia, the groups found deletions and a premature stop codon (exon 4) in the short stature homeobox-containing gene, SHOX, that segregated the marker in band Xp22. 15 In 2000, another group reported that the SHOX gene mutation was found in patients with dyschondrosteosis and MD in multiple cases. Families with this mutation and individuals with Turner syndrome (both essentially hemizygous individuals for the SHOX gene) and families with a history of MD have been shown to exhibit a variable expression of MD and dyschondrosteosis. The variability in expression indicates that a modifier gene on another area of the X chromosome or on an autosomal gene most likely is involved also.16 The SHOX mutation continues to be the subject of many studies.17, 18 ClinicalSymptoms usually begin during adolescence in girls aged 10-14 years; patients rarely present when younger than 8-9 years. Because MD is observed so rarely in males, it has been proposed that a true severe case of MD never occurs in males. Patients experience increasing deformity and pain in the wrist with decreased range of motion. On physical examination, the hand is translated volarly to the long axis of the forearm. The ulna, being relatively unaffected, abuts the carpus and becomes prominent dorsally relative to the carpus and hand. Range of motion is decreased, with a limitation of supination, dorsiflexion, and radial deviation. Pronation and flexion usually are normal. INDICATIONSSection 3 of 12
Operative treatment for MD is indicated for pain relief and cosmetic improvement. These indications are consistent among many authors. Range of motion, especially in pronation and supination, is usually only minimally improved and varies in different operative series. In the skeletally immature patient with clear evidence of MD, the most likely cause of pain is tension within Vickers ligament. Release of the ligament alone or in combination with an osteotomy is indicated. In the skeletally mature patient, the congruency of the radiocarpal joint and the DRUJ (dislocation of the distal radioulnar joint) are assessed. If an osteotomy will result in a secondarily congruous joint, then an osteotomy is indicated. However, if radiocarpal congruity is not possible to obtain, a radioscaphocapitate arthrodesis is indicated. Similarly, if DRUJ congruity is not possible, then a Darrach or Sauve-Kapandji procedure is indicated. RELEVANT ANATOMYSection 4 of 12
An important anatomical consideration in MD is the normal position of the distal radial articular surface. Four features of this articular surface should be noticed radiographically, namely, radial inclination, radial length, volar tilt, and ulnar variance. Radial inclination is the angle formed by a line from the distal radioulnar joint to the radial styloid and a line perpendicular to the shaft of the radius through the lunate fossa. The angle normally is 21-23°. Radial length is the difference in longitudinal level between the lunate fossa and the radial styloid, which should be 12-15 mm. Volar tilt is measured on a lateral radiograph and is the angle formed between a line perpendicular to the radial shaft and a line through the dorsal and volar rims of the radial joint surface. Normally, this is 10-15°. Finally, ulnar variance is the relative difference in height between the radial and ulnar distal articular surfaces. These should be level with each other. CONTRAINDICATIONSSection 5 of 12
No specific contraindications to surgery exist other than those associated with any elective surgery. WORKUPSection 6 of 12
Imaging Studies
TREATMENTSection 7 of 12
Medical therapyNonoperative management may be helpful in skeletally mature individuals with MD and mild-to-moderate short-term wrist pain. If pain is predominantly DRUJ pain, then a sugar-tong–type splint may relieve joint irritation from overactivity. If radiocarpal pain is the primary problem, then a volar splint may decrease symptoms. Patients may eventually decrease their manual activity levels to a point that will keep their symptoms manageable without surgery. In contrast, the younger and skeletally immature patient with clear evidence of MD has pain that is caused by the tension within Vickers ligament and splintage will most likely not have a satisfactory result. Surgical therapyThe surgical decision is based on 4 factors, as follows:
Operative treatment can be divided into those procedures that correct the primary deformity of the radius, those that attempt to decrease pain and increase range of motion by making a compensatory change in the ulna, and those that address both. Multiple procedures address the deformity in the radius. Conceptually, these can be broken into those that change the growth or anatomy at the physis, those that change the bony anatomy of the metaphysis, and those considered salvage-type joint-sacrificing procedures. The goal of ulnar procedures is to change the relationship of the relatively long ulna to the radius. Intraoperative detailsVickers physiolysis When the deformity is noticed early and significant growth remains, changing the growth pattern of the distal radial physis to correct the deformity is possible. In 1992, Vickers and Nielsen described the lesion in the volar and ulnar distal radius as both bony and ligamentous, and they stated that it is an inherent failure of focal growth and structural tethering of further growth. 21 They described an ulnar-volar release for MD of the physis, called physiolysis (see Images 6-7). This allows, then, normal and compensatory growth to correct the deformity, much like the bony bridge resection of Langenskiöld. Vickers and Nielsen used the procedure of resecting the bony and ligamentous lesion (the first to correct MD using remaining growth to correct the deformity). They were the first to describe a ligamentous lesion as part of the pathology and also were the first to use the volar approach to address it. Through a volar flexor carpi radialis (FCR) approach, the pronator is mobilized, and the distal radius is exposed. An osteotome is used to make a longitudinal split 5 mm from the DRUJ on the radius, and parallel transverse 1 mm sections are made until normal physis is identified. Some physis is left to overhang the metaphysis. Fat harvested from the forearm is packed into the bone defect. Completely excising the tethering ligament (Vickers ligament) between the lunate and the radius is critical. The Vickers ligament originates on the radius in a fossa that is seen radiographically as a flame-shaped radiolucency distal to a bone spur on the ulnar aspect of the distal metaphysis (see Images 12-13). Dannenberg noted this characteristic as an area of osteopenia in his original radiographic criteria in 1938. Carter and Ezaki noted it in 91% of their cases. It is fibrous and fibrocartilaginous and 5-7 mm thick.19 It inserts into the anterior surface of the lunate and the anterior radioulnar ligament portion of the triangular fibrocartilage complex (TFCC). Most likely, it is a secondary pathologic structure to a primary bony derangement and may even be a coalescence of normal structures. This ligament may be an etiologic factor in MD pain. Following operative release of this ligament, patients state soon after surgery that their pain is largely relieved. Osteotomy of radius If the deformity has progressed in an older child and remaining growth is insufficient, several procedures can be used to correct the position of the distal radiocarpal joint surface. They generally consist of a biplane osteotomy, either closing or opening wedge, which corrects the position of the joint surface and brings the radius and ulna into a more proper position. If a positive ulnar variance remains, an ulnar shortening procedure can be performed (see Images 8-9).22, 23 A less commonly used method is distraction histogenesis with the Ilizarov technique.24, 25 Several authors have described experience with the technique of radial osteotomy and subsequent angular and length correction over time. The goal is slow correction of the distal radius to make a more congruous DRUJ. Children treated with this method are either skeletally mature or nearly mature. Half pins are commonly selected over tensioned thin-wires to allow better range of motion during distraction. Three or 4 rings are used, with fewer complications and less pain when 3 are used. The first goal after fixation placement and radial osteotomy is angular correction over a 2-week period. The second goal is lengthening of approximately 1.5 cm over the next 2 weeks, followed by consolidation for 3 weeks. The entire process in the distractor takes 8 weeks. In 2000, Carter and Ezaki reported a combined procedure using a Vickers ligament release and a dome-shaped osteotomy of the radius to correct all of the aspects of the radial deformity, including the radial and volar translation of the distal metaphysis. 19This procedure is performed with a volar approach, and the Vickers ligament is excised entirely. A dome-shaped osteotomy is made in the metaphysis so that the articular surface not only decreases in its radial inclination but also translates as it rotates. This translation reestablishes articular support to the lunate. A second maneuver translates the articular surface dorsally. The prominent volar bone is then removed, and the osteotomy is pinned into position with 2 Steinman pins. It not only corrects the deformity but also decreases pain and increases range of motion. Radioulnar length adjustment In MD, the ulna grows normally and becomes longer than the radius. Because the radius is volar, the ulna appears to be subluxed dorsally. The incongruence at the distal radioulnar joint and the impingement of the radius on the ulna in supination may cause pain and contribute to decreased range of motion in supination. To allow unrestricted rotation, several ulnar procedures have been described. These include ulnar shortening, ulnar head resection and a Sauve-Kapandji-type (Lauenstein) DRUJ arthrodesis, and ulnar pseudoarthrosis. Several authors have advocated both radial and ulnar procedures.25, 26 Ulnar resection The Darrach procedure long has been a treatment option for MD. This construct in isolation may leave the carpus unstable, especially in light of the increased ulnar and volar slope of the radial articular surface. The carpus therefore tends to slide off of the ulnar side of the wrist. Several authors have devised procedures to solve this problem. The Sauve-Kapandji (Lauenstein) procedure may be a viable option for MD in that when the ulnar head is preserved, less chance exists for ulnar migration of carpus. In 1975, Ranawat studied 13 wrists in 8 patients with MD. His operative indications were pain and limitation of motion. He did not consider deformity alone to be an indication for operation. Mild deformity was treated with a Darrach procedure, and severe deformity was treated with Darrach plus a biplane radial osteotomy. In patients in whom a Darrach procedure was performed, the carpus tended to translate ulnarward. A radial osteotomy was theorized to improve the muscle balance about the wrist and to provide better axial bone support for the carpus on the radius in the absence of the ulnar head. In 1993, Watson et al described another combined procedure in which the radial osteotomy was performed with both a closing wedge technique on the radial aspect of the metaphysis and an opening wedge on the ulnar aspect with the radial bone wedge. This technique preserved radial length but also required an ulnar head resection. Pain was significantly relieved in all 15 wrists. White and Weiland described a combination procedure in a series of wrists with MD of posttraumatic etiology.26 The procedure included a volar closing wedge osteotomy along with a distal radioulnar arthrodesis and ulnar pseudoarthrosis proximal to the arthrodesis. The osteotomy of the radius improved the mechanics of the radiocarpal joint and prevented radiocarpal arthritis. This procedure alone may not improve pain on supination/pronation due to the incongruent distal radioulnar joint. Resection of the distal ulna as in the Darrach procedure may solve this problem, but ulnar translation of the carpus may result. Fusing the DRUJ maintained carpal stability. Increase in the patient's range of motion was minimal in any plane, but pain was significantly relieved, the carpus was stable, and the cosmetic result was satisfactory. In the skeletally mature patient who presents with pain and in whom physical examination demonstrates limitation of motion and severe radiocarpal joint incongruity, a salvage procedure may be indicated. When incongruity is severe, any surgical manipulation of the joint surfaces would be difficult and the joint would not be stable for smooth articulation. For long-term pain relief and a stable joint, a radiocarpal arthrodesis and distal ulna resection is indicated. Postoperative detailsPostoperative management depends on what is done operatively. Six to 8 weeks of cast immobilization is necessary following an osteotomy of the radius or ulna to allow for bony healing. Hand therapy is necessary in children who are not able to regain range of motion on their own after 2-3 months without restrictions. Follow-upMonitor these children until surgical issues are resolved and then yearly until skeletal maturity is reached. Following a physiolysis procedure, yearly radiographs can be used to document improvement in the position of the distal radial articular surface with growth. COMPLICATIONSSection 8 of 12
In the author's experience, no specific complications after operative correction have arisen as problematic. However, isolated cases of postoperative wound infections, reflex sympathetic dystrophy, and recurrent deformity after continued growth are reported in the literature. OUTCOME AND PROGNOSISSection 9 of 12
Goals for surgical correction of MD consist primarily of pain relief and correction of the cosmetic deformity. A secondary goal is to increase range of motion. Most patients who undergo biplane osteotomy with ulnar length adjustment or the crescentic radial osteotomy of Carter and Ezaki19 attain both primary goals. Range of motion usually is only moderately improved at best. It should be noted that pain relief can be substantial and can be achieved quickly following release of the volar Vickers ligament. FUTURE AND CONTROVERSIESSection 10 of 12
Genetic links of MD to the SHOX gene on the X chromosome are emerging. No simple Mendelian inheritance pattern exists, so more than one gene most likely is involved. The interaction of the SHOX locus with other genes and transcription factors is not known and will be an area of future research. Results may provide a more complete answer to the link between dyschondrosteosis and MD. Historically, surgical treatment of MD has been a closing wedge biplane osteotomy in conjunction with an ulnar shortening osteotomy of the distal ulna. Recently, a new procedure that addresses the deformity with a dome-shaped osteotomy, a release of Vickers ligament, and a reduction of the DRUJ without an ulnar procedure has been successfully used. This procedure shows great promise. MULTIMEDIASection 11 of 12
REFERENCESSection 12 of 12
Article Last Updated: Mar 4, 2008 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
