A 27-year-old woman presents to this primary care physician with progressive wrist pain and decreased grip strength. The pain was described as resistant to painkillers. The patient referred no trauma history and clinical examination revealed short stature because of shortening of the forelegs and forearms (Figure 1).
Bilateral wrist radiographs were performed (PA and lateral projection, Figures 2-3) showing a severe deformity in the radiocarpal joint with dorsal and radial bowing of the radius. Other findings were exaggerated radial inclination, dorsal subluxation of the distal radioulnar joint, positive ulnar variance, a V-shaped proximal carpal row and lunate forced to the apex of radioulnar – carpal joint. Madelung deformity was diagnosed.
The study was completed with an MRI examination of the wrist (Figures 4-5), consisting of T1-weighted fast spin-echo (FSE), T2-weighted fast spin-echo (FSE) with fat saturation and gradient-echo T2 (FFE) sequences performed in the axial, coronal and sagittal planes. The MRI study showed a thickened Vickers ligament, connecting the TFCC to the distal radius.
Genetic testing confirmed the diagnosis of Leri – Weill syndrome.
Leri – Weill syndrome is an uncommon autosomal dominant dyschondrosteosis characterized by mesomelic shortening of forelegs and forearms (with Madelung deformity). The typical clinical presentation of Madelung deformity is progressive deformity during late childhood or early adolescence decreased grip strength and wrist pain due to ulnocarpal impaction.
Madelung deformity [1] is the result of premature growth plate arrest at the medial volar aspect of the distal radius. It can be congenital or can be acquired as the result of repetitive traumatic pressure.
Madelung deformity can be diagnosed with radiographs [2,3]. Classic radiographic features include: dorsal and radial bowing of the radius exaggerated palmar and ulnar tilt of the radiocarpal joint, exaggerated radial inclination, carpal subluxation in a palmar and ulnar direction, a V-shaped proximal carpal row and lunate forced to the apex of radioulnar – carpal joint, dorsal subluxation of the distal radioulnar joint, positive ulnar variance, wedging of the carpus between the radius and ulna.
However, in 2010, McCarroll et al established four objective measurements in plain radiographs [4] allowing diagnosis at earlier stage. Those radiological criteria are ulnar tilt ≥ 33º, lunate subsidence ≥ 4 mm, lunate fossa angle ≥ 40º and palmar carpal displacement ≥ 20 mm.
Conservative treatments usually are ineffective, and many surgical interventions have been proposed [5]. In general, the goals of surgery are to restore the normal wrist anatomy in order to ease the pain and to prevent the deformity from worsening.
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Madelung deformity
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Based on the provided X-ray and MRI images, the following main characteristics are noted:
Based on the patient’s presentation and imaging changes, the possible diagnoses include:
Considering this patient is female, has short stature, segmental shortening of the forearm, and imaging findings indicative of Madelung deformity, aligned with literature review and clinical experience, the most likely diagnosis is:
Leri–Weill Dyschondrosteosis (with Madelung Deformity)
To further clarify any genetic components, it is advisable to perform genetic testing to confirm potential defects in the SHOX gene. If symptoms worsen or if other joint problems occur, additional CT or functional imaging studies may be warranted.
A rehabilitation plan should be implemented under the guidance of a specialist physician or physical therapist, especially when taking into account lower-limb and cardiopulmonary function to ensure safety.
Disclaimer: This report provides a reference analysis and does not substitute for an in-person consultation or the direct guidance of a professional physician. Patients should base their treatment on actual circumstances, follow medical advice, or consult professional guidance for diagnosis and rehabilitation.
Madelung deformity