SKELETAL ANOMALIES AND DEFORMITIES IN PATIENTS WITH DELETIONS OF 22Q11

Skeletal anomalies in patients with a 22q11.2 deletion are reported in frequently. We report the skeletal findings in 108 patients with a 22q 11.2 deletion, of whom 37 (36%) had a skeletal anomaly, Twenty-two pat ients (20%) had anomalies of the limbs, 7 of the upper limb, including preaxial or postaxial polydactyly, An anomaly of the lower Limb was f ound in 16 patients, including postaxial polydactyly, clubfoot, severe ly overfolded toes, and 2-3 toe cutaneous syndactyly. Chest films of 6 3 patients were examined; 30% of them had abnormal findings, most comm only supernumerary ribs (17%) or a ''butterfly'' vertebral body (11%). Hypoplastic vertebrae, hemivertebrae, and vertebral coronal clefts me re also noted, Thus, skeletal anomalies are not uncommon in patients w ith a 22q11.2 deletion and may occur more frequently than recognized p reviously. (C) 1997 Wiley-Liss, Inc.