Difference between revisions of "DiGeorge syndrome"

 
Line 4: Line 4:
 
*Keep in differential for [[hypocalcemia]] of unknown etiology in pediatric patient
 
*Keep in differential for [[hypocalcemia]] of unknown etiology in pediatric patient
  
==CATCH-22<ref>Wilson DI et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct; 30(10): 852–856.</ref>==
+
==Clinical features==
*Cardiac defects
+
===CATCH-22<ref>Wilson DI et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct; 30(10): 852–856.</ref>===
*Abnormal facies - micrognthia, long face, etc.
+
*Cardiac defects (commonly interrupted aortic arch, [[truncus arteriosus]] and [[tetralogy of Fallot]])
 +
*Abnormal facies - micrognathia, long face, etc.
 
*Thymic hypoplasia - immune deficiencies
 
*Thymic hypoplasia - immune deficiencies
 
*Cleft palate
 
*Cleft palate
*[[Hypocalcemia]]
+
*[[Hypocalcemia]] due to [[hypoparathyroidism]]
 +
 
 +
==Differential diagnosis==
 +
 
 +
==Evaluation==
 +
 
 +
==Management==
 +
 
 +
==Disposition==
 +
 
 +
==See also==
  
 
==References==
 
==References==

Latest revision as of 19:09, 14 September 2019

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.