A patient of short stature presents to your office with wrist pain, decreased wrist ranges of motion, and bowing deformity of the distal upper extremity. Radiographic examination of the wrist reveals a short radius, elongated ulna, decreased carpal angle, and V-shaped proximal carpal row. Which diagnosis is most likely?

Question

Quizplus · Accepted Answer

The presentation is consistent with dyschondrosteosis, also known as Leri-Weill dyschondrosteosis. It is a genetic disorder that causes short stature and skeletal abnormalities, including increased length of the ulna and decreased length of the radius, resulting in a V-shaped proximal carpal row. Bowing deformity of the distal upper extremity is also a common finding. Achondroplasia and pyknodysostosis may also present with short stature, but they do not typically have the same radiographic findings seen in dyschondrosteosis. Down syndrome and chondroectodermal dysplasia are not typically associated with the skeletal findings present in this case.

A Patient of Short Stature Presents to Your Office with Wrist