Upper limb malformations in DiGeorge syndrome

Am J Med Genet. 1995 Mar 13;56(1):39-41. doi: 10.1002/ajmg.1320560111.

Abstract

We report on upper limb anomalies in two children with a complete DiGeorge sequence: conotruncal defects, hypocalcemia, thymic aplasia, and facial anomalies. One child had preaxial polydactyly, and the other had club hands with hypoplastic first metacarpal. In both patients, molecular analysis documented a 22q11 deletion. To our knowledge, limb anomalies have rarely been reported in DiGeorge syndrome, and they illustrate the variable clinical expression of chromosome 22q11 deletions.

Publication types

  • Case Reports

MeSH terms

  • Chromosome Deletion
  • Chromosomes, Human, Pair 22
  • DiGeorge Syndrome / complications
  • DiGeorge Syndrome / genetics*
  • Female
  • Fingers / abnormalities*
  • Hand Deformities, Congenital / complications
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Polydactyly / complications
  • Polydactyly / genetics*