| DiGeorge Syndrome |
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Tae Woon Kim, Yong Choi, Hyung Ro Moon |
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Department of Pediatrics, Seoul National University College of Medicine |
| DiGeorge 증후군 -1예 보고-
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김태운, 최 용, 문형로 |
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서 울대학교 의과대 학 소아과학교실 |
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| Abstract |
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A case of DiGeorge syndrome in 2-month-old male infant was presented with a brief review of literature.
He was characterized 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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