DiGeorge syndrome
Revisión del 19:09 14 sep 2019 de ClaireLewis (discusión | contribs.)
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.