IS Case 574: Madelung deformity in Turner's syndrome

Mike Nguyen, MD

Imaging Sciences URMC

Imaging Sciences URMC 2010
Publication Date: 2011-11-17

History

Patient is a 13-year-old girl being evaluated for short stature. Imaging of her left wrist demonstrated features consistent with Madelung deformity. The patient later tested positive for Turner's syndrome.

Findings

Radiographic images of the left hand, wrist, and forearm demonstrated typical features of Madelung deformity in a patient with Turner's syndrome.

Diagnosis

Madelung deformity in Turner's syndrome

Discussion

Madelung deformity describes a variety of conditions where there is premature fusion of the ulnar aspect of radial epiphysis. Typical features include ulnar angulation of the distal radius, decreased carpal angle, dorsal subluxation of ulna, triangulation of distal radial epiphysis, and wedged in lunate with widened distal radioulnar interosseous space. Etiologies includes post-traumatic, dysplasias, genetic, and idiopathic causes. Bone dysplasias associated with with Madelung deformity include multiple hereditary cartilaginous exostoses, Ollier disease, achondroplasia, and mucopolysaccharidoses including Hurler syndrome. There is also an association with mesomelic dwarfism, e.g., dyschondrosteosis, and Turner's syndrome.

Clinical presentation includes wrist pain (most common), loss of motion, loss of supination. The deformity develops during infancy or adolescence.

References

  1. Greenspan A. Orthopedic Imaging: A Practical Approach, 4th ed., Lippincott, Williams & Wilkins, 2004: 891-893.
  2. Stoller D, Tirman P, Bredella M. Diagnostic Imaging Orthopaedics. Amirsys, 2004: 3-74 - 3-77.
  3. Weissleder R, Wittenberg J, Harisinghani M, Chen J. Primer of Diagnostic Imaging, 4th ed., Mosby Elsevier, 2007: 495-496.

3 images