DiGeorge syndrome

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Background

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

CATCH-22[1]

  • Cardiac defects
  • Abnormal facies
  • Thymic hypoplasia - immune deficiencies
  • Cleft palate
  • Hypocalcemia

Sources

  1. ↑ Wilson DI et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct; 30(10): 852–856.
Obtenido de «https://www.wikem.org/w/index.php?title=DiGeorge_syndrome&oldid=53862»