DiGeorge syndrome: Difference between revisions
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==Background== | ==Background== | ||
*The most common microdeletion disorder in humans<ref>Lopez-Rivera, Esther, Ph. D., et al. “Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.” The New England Journal of Medicine, vol. 376, 2017, pp. 742–54, doi:10.1056/NEJMoa1609009.</ref> | |||
*As prevalent as 1/2000 people in US | *As prevalent as 1/2000 people in US | ||
*22q11 chromosomal defect | *22q11 chromosomal defect | ||
Revision as of 02:12, 9 August 2021
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