A 42-year-old man, with deformity of both wrists.
A 42-year-old man was referred to our department of radiology by paediatricians who visited his 9 years old daughter to assess the causes of her low height growth, below the 25th percentile. The stature of the man was normal (height 170cm), but at physical examination he showed a mesomelic shortening of the upper limbs and deformity of both wrists (Fig. 1). The patient was painless or functional impotence and he never requested a medical opinion.
Forearms and wrists posteroanterior (Fig.2a,b) and lateral (Fig.3a,b) plain radiographs and upper arms anteroposterior (Fig.4a,b) radiographs were performed.
The child underwent a bone age examination (radiography left hand) and radiological evaluation of upper and lower limbs that showed no early signs of Madelung's disease and a bone maturity linkable with the child's age.
Genetic studies demonstrated a heterozygote deletion of pseudo-autosomal 1 region (PAR1) both in the father and daughter. This deletion encompasses the short stature homeobox-containing (SHOX) gene and that results in a SHOX haploinsufficiency.
Madelung deformity (MD) of the wrist is characterised 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. Symptoms usually begin during adolescence in girls aged 10-14 years. The onset of symptoms is rarely less than 8-9 years of age. MD is rarely observed in males.
Patients present with 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. There is a limitation of supination, dorsiflexion, and radial deviation. Pronation and flexion usually are normal.
MD is classified into 4 different aetiologic groups: post-traumatic, dysplastic, chromosomal or genetic (Turner syndrome), and idiopathic. Bone dysplasias associated with MD include multiple hereditary osteochondromatosis, Ollier disease, achondroplasia, multiple epiphysial dysplasias, and the mucopolysaccharidoses. The most important dysplasia associated with MD is Leri-Weill dyschondrosteosis (LWD), a pseudoautosomal dominant disorder characterised by mesomelic dwarfism. Forearm shortening in LWD tends to be bilateral and appears almost identical to that in primary MD, except the proximal radius involvement characteristic of LWD. Short stature homeobox-containing (SHOX) gene haploinsufficiency have been identified in approximately 60% of LWD cases.
The diagnosis is confirmed radiographically with PA and lateral views of the forearm and wrist. Radiographic features of MD are: lateral and dorsal curvature of the radius, widened interosseous space, true shortening of the total length of the radius, premature fusion of the ulnar half of the distal radial physis, focal osteopenia in the area of the ulnar portion of the distal radius, exostosis at the distal ulnar border of the radius, triangularisation of the distal radial epiphysis, ulnar and palmar facing distal radial articular surface, relative dorsal subluxation of the ulna, increased radiodensity of the ulnar head, carpal wedging with the lunate at the apex of the wedge, an arched curvature of the carpal bones in direct continuation of the dorsal bowing of the radius on the lateral radiograph.
Non-contrast CT or better MRI may demonstrate an abnormal radio-lunate ligament (Vickers ligament ) with radial insertion within a bony gutter. Detection of this gutter on radiographs, as an area of osteopenia, suggests the presence an abnormal ligament. Early release of the abnormal ligament appears to decrease wrist deformity, improve range of motion and reduce symptoms. Because the deformity is 3-dimensional, CT scan–derived 3-dimensional reconstruction may assist in understanding the articular orientation. However CT scans are not necessary for routine treatment.
Treatment is primarily directed toward the relief of pain and the restoration of function, with cosmetic improvement as a secondary consideration. Surgical treatment is directed toward shortening the ulna, correcting the bowing deformity of the distal radius by wedge osteotomy, stabilizing the carpus, and preventing recurrence of deformity by controlling the asymmetrical growth of the distal radius.
Madelung deformity associated with dyschondrosteosis
Based on the provided anteroposterior and lateral radiographs of the wrist and the upper limb (shoulder joint) X-rays, the following main features can be observed:
These radiological findings align with a palmar-ulnar deformity of the distal radius. Considering the clinical information regarding the patient’s bilateral wrist deformities, causes related to Madelung deformity should be taken into account.
Based on the patient’s presenting symptoms, age, and imaging findings, Madelung deformity is the primary consideration at this time. Given that it is relatively less common in males, if short stature or a family history is present, Léri-Weill dyschondrosteosis should be ruled out.
Taking into account the patient’s gender, age, bilateral wrist deformities (palmar-ulnar tilt, dorsal ulnar prominence, abnormal radial physis growth, etc.), and the radiological findings mentioned above, the most likely diagnosis is:
If further etiological clarification is needed (e.g., to determine whether specific genetic changes associated with Léri-Weill dyschondrosteosis are present), genetic testing or further endocrine and genetic evaluations may be considered.
Overall Treatment Goal: Alleviate pain, improve joint range of motion and function, prevent further deformity, and consider cosmetic appearance.
Based on the FITT-VP principles (Frequency, Intensity, Time, Type, Progression, Individualization):
Disclaimer: This report provides an interpretive analysis based on the provided imaging and information and cannot replace an in-person consultation or the opinions of a professional physician. For further inquiries or a more detailed treatment plan, please consult an orthopedic specialist or other relevant medical professionals.
Madelung deformity associated with dyschondrosteosis
