| DISEASE AND CAUSES |
PATHOPHYSIOLOGY |
SIGNS AND SYMPTOMS |
| DiGeorge syndrome |
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- Lack or partial lack of thymus gland
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Partial or total absence of cell-mediated immunity resulting from T-lymphocyte deficiency produces life-threatening hypocalcemia associated with cardiovascular and facial anomalies. Without a fetal thymus transplant, patients do not live beyond age 2. |
At birth:
- Low-set ears, notches in ear pinna, fish-shaped mouth, an undersized jaw and abnormally wide-set eyes
- Great vessel anomalies and tetralogy of Fallot
- Hypocalcemia
- CNS and early heart failure
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