DiGeorge syndrome
Background
- The most common microdeletion disorder in humans[1]
- 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[2]
- 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