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• W2069688046 abstract "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. Am. J. Med. Genet. 72:210–215, 1997. © 1997 Wiley-Liss, Inc." @default.
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• W2069688046 date "1997-10-17" @default.
• W2069688046 modified "2023-10-18" @default.
• W2069688046 title "Skeletal anomalies and deformities in patients with deletions of 22q11" @default.
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• W2069688046 doi "https://doi.org/10.1002/(sici)1096-8628(19971017)72:2<210::aid-ajmg16>3.0.co;2-q" @default.
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