SECTION EDITOR: SAMIR S. SHAH, MD, MSCE
Author Affiliations: Department of Pediatrics, Washington University, St Louis, Missouri.
A 12-year-old boy presented with painful hands and flexible wrists, which were first noticed at 3 years of age. He had no other medical or family history, but he had undergone several bilateral operations on his feet for the correction of deformities. His wrists were particularly painful, and he complained of them being “too bendy.” A physical examination determined that the boy had shortened feet with metatarsal adductus, pes planus, a decreased range of motion of the midfoot joints, and multiple surgical scars. The length and width of his fingers appeared normal, but the metacarpus appeared small. Wrist instability was present with a dramatically increased range of motion (Figure, A). Redundant tissue was present over the dorsum of his hands, with apparently normal elasticity. There were no vascular anomalies or abnormal-appearing scars; the skin itself appeared normal. He wore glasses but had no lens dislocation. His corneas were not cloudy, and the sclera were not blue. His lungs were clear, and the heart sounds were without murmur. The patient had an abnormal gait due to foot deformities and surgical scars, but he was able to ambulate without mechanical assistance. The remainder of his physical examination was unremarkable. The patient had no hypertension, and a urinalysis showed that there was no hematuria or proteinuria.
Figure. A, Photograph of a 12-year-old boy demonstrating dramatic wrist extension. B, A radiograph shows that there are no carpal bones (thin arrow) and that there are shortened metacarpal bones (thick arrow).
What is your diagnosis?
Lee CA, White AJ. Picture of the Month—Quiz Case. JAMA Pediatr. 2013;167(3):297. doi:10.1001/jamapediatrics.2013.1554a