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Skeletal anomalies and deformities in patients with deletions of 22q11

✍ Scribed by Ming, Jeffrey E.; McDonald-McGinn, Donna M.; Megerian, Tanya E.; Driscoll, Deborah A.; Elias, Ellen Roy; Russell, Barbara M.; Irons, Mira; Emanuel, Beverly S.; Markowitz, Richard I.; Zackai, Elaine H.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 35 KB
Volume: 72
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971017)72:2<210::aid-ajmg16>3.0.co;2-q

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✦ Synopsis

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.

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