Skeletal anomalies and deformities in patients with deletions of 22q11

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

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

70 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)210-215
Number of pages6
JournalAmerican Journal of Medical Genetics
Issue number2
StatePublished - Oct 17 1997
Externally publishedYes


  • 22q11 deletion
  • Butterfly vertebrae
  • DiGeorge syndrome
  • Skeletal anomalies
  • Velocardiofacial syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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