Wed Apr 30 2025
What are the symptoms of DiGeorge syndrome?
The triad of DiGeorge syndrome, also known as 22q11.2 deletion syndrome, consists of:
1. Cardiac defects (commonly including conotruncal anomalies)
2. Abnormal facies (distinctive facial features such as hypertelorism, cleft palate, etc.)
3. Thymic hypoplasia (leading to immune deficiencies)
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