TYK130
Di George syndrome is associated with all of the following except?
a) Thymic hypoplasia
b) Choanal atresia
c) Cardiac defects
d) Hypocalcemia
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Di George syndrome is associated with all of the following except?
a) Thymic hypoplasia
b) Choanal atresia
c) Cardiac defects
d) Hypocalcemia
Answer b.
DiGeorge syndrome is associated with cardiac defects (> 80%) such as TOF, interrupted aortic arch, pulmonary atresia, Hypoplastic left ventricle, truncus arteriosus; Airway abnormalities such as abnormal facies, hypertelorism, small mouth, retrognathia and/or micrognathia, Pierre-Robin sequence; Thymic hypoplasia thereby increased risk of T-cell defects and infection; Cleft palate, velopharyngeal insufficiency, tracheomalacia, laryngomalacia, short trachea and Hypocalcemia (hypoparathyroidism) which can be worsened by hyperventilation and citrated blood products. Choanal atresia is commonly associated with CHARGE association but not DiGeorge syndrome.