DiGeorge syndrome: Difference between revisions
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==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>== | ||
*Cardiac defects | *Cardiac defects | ||
*Abnormal facies | *Abnormal facies - micrognthia, long face, etc. | ||
*Thymic hypoplasia - immune deficiencies | *Thymic hypoplasia - immune deficiencies | ||
*Cleft palate | *Cleft palate | ||
Revision as of 22:24, 18 February 2016
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 - micrognthia, long face, etc.
- Thymic hypoplasia - immune deficiencies
- Cleft palate
- Hypocalcemia
Sources
- Bawle EV et al. DiGeorge Syndrome. eMedicine. Nov 5, 2015. http://emedicine.medscape.com/article/886526-overview#showall.
- ↑ Wilson DI et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct; 30(10): 852–856.