DiGeorge syndrome: Difference between revisions
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*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 - | *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== | ||
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]
- Cardiac defects (commonly interrupted aortic arch, truncus arteriosus and tetralogy of Fallot)
- Abnormal facies - micrognathia, long face, etc.
- Thymic hypoplasia - immune deficiencies
- Cleft palate
- Hypocalcemia due to hypoparathyroidism
Differential diagnosis
Evaluation
Management
Disposition
See also
References
- ↑ Wilson DI et al. DiGeorge syndrome: part of CATCH 22. J Med Genet. 1993 Oct; 30(10): 852–856.