Bilateral camptodactyly and recurrent patellar dislocation: a new sign of 22q11 deletions or an independent dominant disorder?

Clin Dysmorphol. 2008 Jul;17(3):157-159. doi: 10.1097/MCD.0b013e3283023d0c.

Abstract

Three individuals from two families with bilateral camptodactyly and recurrent patellar subluxation are presented. All three have features of Di George syndrome owing to a 22q11 deletion. Hand abnormalities are infrequently seen in 22q11 deletions. Only one previous report exists of camptodactyly with patellar subluxation.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human, Pair 22
  • DiGeorge Syndrome / genetics*
  • DiGeorge Syndrome / pathology*
  • Family Health
  • Female
  • Fingers / abnormalities*
  • Gene Deletion
  • Genes, Dominant
  • Humans
  • Knee Dislocation / genetics*
  • Knee Dislocation / pathology*
  • Magnetic Resonance Imaging
  • Male
  • Patella
  • Recurrence