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NBME 16 Answers

nbme16/Block 4/Question#24 (reveal difficulty score)
A 6-month-old boy with a history of recurrent ...
T-lymphocyte deficiency ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ / ๐Ÿ“–
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submitted by โˆ—cassdawg(1780)
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This boy has DiGeorge Syndrome (CATCH22) due to failure of development of the 3rd and 4th pharyngeal pouches: [FA2020 p116]

  • Cardiac defects (conotruncal abnormalities)
  • Abnormal facies
  • Thymic hypoplasia/aplasia (leading to T-cell deficiency and immunodeficiency)
  • Cleft palate (our boy does not have but it is common)
  • Hypocalcemia (due to agenesis/aplasia of the parathyroid glands
  • 22q11 microdeletion
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