Skeletal anomalies and deformities in patients with deletions of 22q11

Am J Med Genet. 1997 Oct 17;72(2):210-5. doi: 10.1002/(sici)1096-8628(19971017)72:2<210::aid-ajmg16>;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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Arm / abnormalities
  • Bone and Bones / abnormalities*
  • Bone and Bones / diagnostic imaging
  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 22*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Leg / abnormalities
  • Male
  • Radiography
  • Ribs / abnormalities
  • Spine / abnormalities