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

Clinical features

CATCH-22[1]

Differential diagnosis

Evaluation

Management

Disposition

See also

References

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