DiGeorge syndrome involves abnormal development of which pharyngeal arches?

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Study for the Step 3 UWSA Exam with our challenging quiz. Prepare with detailed explanations for each question, ensuring you're well-equipped for success. Enhance your understanding and boost your exam confidence!

Multiple Choice

DiGeorge syndrome involves abnormal development of which pharyngeal arches?

Explanation:
DiGeorge syndrome arises from failure of neural crest cells to populate the third and fourth pharyngeal arches, leading to defective development of their derivatives. The thymus and parathyroid glands originate from these arches (via the third and fourth pouches), so their absence or hypoplasia causes T-cell immunodeficiency and hypocalcemia. The same developmental disturbance also affects the cardiac outflow tract, leading to conotruncal heart defects. A 22q11.2 deletion underlies this pattern. So abnormal development of the third and fourth pharyngeal arches is the hallmark.

DiGeorge syndrome arises from failure of neural crest cells to populate the third and fourth pharyngeal arches, leading to defective development of their derivatives. The thymus and parathyroid glands originate from these arches (via the third and fourth pouches), so their absence or hypoplasia causes T-cell immunodeficiency and hypocalcemia. The same developmental disturbance also affects the cardiac outflow tract, leading to conotruncal heart defects. A 22q11.2 deletion underlies this pattern. So abnormal development of the third and fourth pharyngeal arches is the hallmark.

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