DiGeorge's syndrome
Congenital thymic aplasia
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
August 3rd 2010
Categories
Internal Medicine
Pediatrics
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