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KMID : 0367419780190050060
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Journal of Korean Pediatric Society
1978 Volume.19 No. 5 p.60 ~ p.65
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DiGeorge Syndrome
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김태운/Kim, Tae Woon
최용/문형로/Choi, Yong/Moon, Hyung Ro
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Abstract
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A case of DiGeorge syndrome in ?-month-old male infant was presented with a brief review of literature.
He was c haracterized by a malformed right ear, a short philtrum of the upper lip, polydactyly, hypocalcemia, generalized convulsions and absence of the thymic shadow in a film of the chest.
Although the generalized convulsions were abated with calcium gluconate therapy, he died on the second hospital day.
At postmortem examination the thymus and the parathyroid glands were grossly absent and both lower lungs were congested. There were no congenital cardiovascular anomalies. Imunological studies and microscopic examinations through serial sectioning of the organs of the anterior mediastinum and the neck were not performed.
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KEYWORD
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