DiGeorge's syndrome Congenital thymic aplasia

DiGeorge's syndrome
  • Facts:
    Caused by hypoplasia of the third and fourth pharyngeal pouches
    Microdeletion of 22q11
  • History / PE:
    Hypocalcemia and tetany (from absent parathyroids) within 48hrs of birth
    Absent or hypoplastic thymus
    Congenital heart defects (cyanotic heart disease)
    Prolonged QT intervals (from hypocalcemia )
  • Pneumonic:
    "CATCH 22 "

    C ardiac Abnormality (especially tetralogy of Fallot )
    A bnormal facies
    T hymic aplasia
    C left palate
    H ypocalcemia

    22 q11 microdeletion

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August 3rd 2010