Ming J E, McDonald-McGinn D M, Megerian T E, Driscoll D A, Elias E R, Russell B M, Irons M, Emanuel B S, Markowitz R I, Zackai E H
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, University of Pennsylvania, 19104, USA.
Am J Med Genet. 1997 Oct 17;72(2):210-5. doi: 10.1002/(sici)1096-8628(19971017)72:2<210::aid-ajmg16>3.0.co;2-q.
Skeletal anomalies in patients with a 22q11.2 deletion are reported infrequently. We report the skeletal findings in 108 patients with a 22q11.2 deletion, of whom 37 (36%) had a skeletal anomaly. Twenty-two patients (20%) had anomalies of the limbs, 7 of the upper limb, including preaxial or postaxial polydactyly. An anomaly of the lower limb was found in 16 patients, including postaxial polydactyly, clubfoot, severely overfolded toes, and 2-3 toe cutaneous syndactyly. Chest films of 63 patients were examined; 30% of them had abnormal findings, most commonly supernumerary ribs (17%) or a "butterfly" vertebral body (11%). Hypoplastic vertebrae, hemivertebrae, and vertebral coronal clefts were also noted. Thus, skeletal anomalies are not uncommon in patients with a 22q11.2 deletion and may occur more frequently than recognized previously.
