DiGeorge syndrome: Difference between revisions
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*As prevalent as 1/2000 people in US | *As prevalent as 1/2000 people in US | ||
*22q11 chromosomal defect | *22q11 chromosomal defect | ||
*Keep in differential for hypocalcemia of unknown etiology in pediatric | *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>== | ==CATCH-22<ref>Wilson DI et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct; 30(10): 852–856.</ref>== | ||
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*Thymic hypoplasia - immune deficiencies | *Thymic hypoplasia - immune deficiencies | ||
*Cleft palate | *Cleft palate | ||
*Hypocalcemia | *[[Hypocalcemia]] | ||
==References== | ==References== | ||
Revision as of 15:26, 6 July 2016
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
- ↑ Wilson DI et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct; 30(10): 852–856.