Leri-Weill Disease

Michael W. Matchette, MD; Justin Q. Ly, MD; Douglas P. Beall, MD

August 03, 2005

Summary

A 5-year-old Hispanic girl was seen for evaluation of an unusual wrist deformity bilaterally that, according her parents, had gradually worsened since the age of 3. On examination, the child's wrist deformities were concerning for dorsal dislocation of the distal ulna bilaterally, which were nonreducible. The physical examination was otherwise normal and revealed an interactive patient with signs of age-appropriate cognitive development. The parents reported no history of trauma or prior hospitalizations. The parents appear to be of normal development, although the patient's mother is only 5 feet tall, which is much shorter than her siblings. The growth chart shows that the patient is in the 40th percentile for weight but only in the 5th percentile for height. The patient's short stature appears to be primarily related to under-development of the lower extremities. To better assess the apparent skeletal abnormalities, radiographs of the patient's extremities were obtained (Figures 1 and 2).

(A) Oblique radiograph of the left upper extremity shows an abnormally shortened humerus and radius, with mid-radius convex deformity and resultant widening of the interosseous space. At the distal radioulnar joint, there is abnormal widening. Similar changes are seen involving the contralateral extremity. (B) Anteroposterior radiograph of the right forearm shows similar shortening and bowing of the radius. The distal ends of the radius and ulna form a characteristic "V" shape. This appearance is consistent with Madelung's deformity, which is a bilateral finding.

(A) Oblique radiograph of the left upper extremity shows an abnormally shortened humerus and radius, with mid-radius convex deformity and resultant widening of the interosseous space. At the distal radioulnar joint, there is abnormal widening. Similar changes are seen involving the contralateral extremity. (B) Anteroposterior radiograph of the right forearm shows similar shortening and bowing of the radius. The distal ends of the radius and ulna form a characteristic "V" shape. This appearance is consistent with Madelung's deformity, which is a bilateral finding.

Anteroposterior radiograph of the distal left lower extremity reveals fibular shortening (also present on the right). Bilateral femur shortening or mesomelia (not shown) contributes to dwarfism in this patient.

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