Diferencia entre revisiones de «DiGeorge syndrome»
(Text replacement - "Category:Peds" to "Category:Pediatrics") |
|||
| Línea 11: | Línea 11: | ||
*Hypocalcemia | *Hypocalcemia | ||
== | ==References== | ||
<references/> | <references/> | ||
[[Category:Pediatrics]] | [[Category:Pediatrics]] | ||
Revisión del 13:40 26 jun 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
References
- ↑ Wilson DI et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct; 30(10): 852–856.