DiGeorge syndrome

Background

  • As prevalent as 1/2000 people in US
  • 22q11 chromosomal defect
  • Keep in differential for hypocalcemia of unknown etiology in pediatric patient

CATCH-22[1]

  • Cardiac defects
  • Abnormal facies - micrognthia, long face, etc.
  • Thymic hypoplasia - immune deficiencies
  • Cleft palate
  • Hypocalcemia

References

  1. Wilson DI et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct; 30(10): 852–856.