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Home > West Medicine > Pediatrics > Pediatric Surgery
百科

Congenital thymic hypoplasia

小儿外科

Common symptoms

低钙血症、抽搐、心脏畸形、眼距宽阔

The pathology of disease

Congenital thymic hypoplasia (DiGeorge/22q11 deletion) is T-cell deficiency; hypocalcemia; conotruncal heart defects; facial anomalies.

Symptoms

Recurrent infections; hypocalcemic seizures; heart murmur; characteristic facies

Causes

22q11.2 deletion; failed 3rd/4th pharyngeal pouch development.

Treatment

Thymus transplant; calcium/vitamin D; surgical heart repair; IVIG

Dept

Immunology / pediatrics.

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