| A Case of DiGeorge's Syndrome. |
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Jong Sik Kim, Dae Young Kim, Kang Ho Kim, Choon Ho Park, Young Bong Park, Kwang Rhun Koo, Chang Soo Ra |
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Department of Pediatrics, College of Medicine, Chosun University, Kwangju, Korea |
| DiGeorge 증후군 1례 |
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김종식, 김대영, 김강호, 박춘호, 박영봉, 구광련, 나창수 |
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조선대학교 의과대학 소아과학교실 |
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Received: 25 July 1987 |
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| Abstract |
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DiGeorge’s syndrome is characterized by partial or complete absence of the parathyroid gland and
thymus gland and often associated with the cardiovascular and craniofacial anomalies.
A-22-days old male infant, delivered without complications at term after a normal pregnancy,
developed irritability, feeding difficulties, dyspnea and convulsion. He was characterized by a low-set,
malformed right ear, short philtrum of the upper lip, absence of the thymic shadow in films of the
chest X-ray. The ventricular septal defect and over-riding of aorta were showed in the echocardiogra-
phy. The serum calcium level was 4.6 mg/dl, the serum phosphorus level was 7.8 mg/dl and the serum
parathyroid hormone level was 460 pg/ml.
A brief review of literature was made. |
| Key Words:
DiGeorge’s syndrome, Hypocalcemia |
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