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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

DiGeorge syndrome

儿科综合

Common symptoms

口腔念珠菌感染、耳轮发育不全、纵沟短、反复肺炎、小头、抽搐、肺动脉闭锁、体型异常、反复感染

The pathology of disease

DiGeorge syndrome (22q11.2 deletion) is conotruncal heart defects; thymic hypoplasia (T-cell deficit); hypocalcemia; characteristic facies; palate; developmental; multidisciplinary.

Symptoms

Congenital heart; neonatal hypocalcemia; recurrent infections; characteristic facies; cleft palate; developmental; 22q11 deletion

Causes

22q11.2 deletion; autosomal dominant; microdeletion; DiGeorge.

Treatment

Multidisciplinary; heart surgery; calcium/vitamin D; T-cell evaluation; developmental; genetics; thymus transplant selected

Dept

Pediatrics / genetics / cardiology / immunology / endocrinology.

Warm reminder: Health education reference only; seek care at regular hospital.