- Mask-like face
- Decreased to absent deep tendon reflexes
- Multiple skin changes including pigmentary, eczematoid and atrophic
-
Growth failure
- Absence of pubertal development
- Hypoplastic tonsils, lymph nodes, and spleen
Possible tests include:
- Serum immunoglobulin levels (IgE, IgA) - especially decreased IgA and IgE levels
- Decreased B and T cell screen
- Elevated alpha fetoprotein (AFP)
- Carcinoembryonic antigen (CEA)
- Increased tendency of chromosomes to break on exposure to radiation
- Genetic testing for mutations in the ATM gene.
- X-rays showing underdeveloped, small thymus in childhood
- Abnormal glucose tolerance test
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