Clinical and cytogenetic findings in 14 patients with madelung anomaly.

Abstract

Madelung deformity of the wrist is a congenital defect caused by a growth disturbance in the volar-ulnar distal radial physis leading to a typical appearance of the upper extremities. The majority of Madelung deformity case caused by hereditary dyschondrosteosis of the wrist. In a number of instances, the disease has a genetic etiology. This article reports the clinical and cytogenetic findings associated with Madelung deformity in 14 patients. Results indicate Madelung anomaly often is associated with additional clinical abnormalities, particularly delayed puberty and menstrual disorders, as well as sexual chromosome aberrations.