生物化学

Less common disorders:D

2025-04-08 生物化学加入收藏

DISEASE AND CAUSESPATHOPHYSIOLOGYSIGNS AND SYMPTOMSDiGeorge syndromeLack or part

DISEASE AND CAUSES	PATHOPHYSIOLOGY	SIGNS AND SYMPTOMS
*DiGeorge syndrome*
Lack or partial lack of thymus gland	Partial or total absence of cell-mediated immunity resulting from T-lymphocyte deficiency produces life-threatening hypocalcemia associated with cardiovascular and facial anomalies. Without a fetal thymus transplant, patients do not live beyond age 2.	At birth: Low-set ears, notches in ear pinna, fish-shaped mouth, an undersized jaw and abnormally wide-set eyes Great vessel anomalies and tetralogy of Fallot Hypocalcemia CNS and early heart failure

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