Skeletal anomalies and deformities in patients with deletions of 22q11.
Publication/Presentation Date
10-17-1997
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.
Volume
72
Issue
2
First Page
210
Last Page
215
ISSN
0148-7299
Published In/Presented At
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. (1997). Skeletal anomalies and deformities in patients with deletions of 22q11. American journal of medical genetics, 72(2), 210–215. https://doi.org/10.1002/(sici)1096-8628(19971017)72:2<210::aid-ajmg16>3.0.co;2-q
Disciplines
Medicine and Health Sciences | Pediatrics
PubMedID
9382145
Department(s)
Department of Pediatrics
Document Type
Article