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KMID : 0356920080550060769
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Korean Journal of Anesthesiology
2008 Volume.55 No. 6 p.769 ~ p.773
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The general anesthesia experience of cornelia de lange syndrome patient -A case report-
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Cho Sang-Yun
Jeon Woo-Jae
Yeom Jong-Hoon
Cho Yung-Hyun
Shim Jae-Hang
Shin Woo-Jong
Kim Kyoung-Hun
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Abstract
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Cornelia de Lange syndrome (Amsterdam dwarfism) is a congenital disease characterized by mental retardation associated with multiple malformation.A genetic etiology has been proposed, with suggestions of autosomal dominant and recessive inheritance. It affects one in 30,000 to 60,000 live births.Two-thirds of patients with the condition die before the end of their first year; death occurs from pulmonary aspiration in infancy, and from infections and bowel obstruction in later life.One reference to the syndrome highlights problems with seizures, cardiac abnormalities and difficult tracheal intubation but apart from this paper, there is little published information about the anesthetic management.
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KEYWORD
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Cornelia de Lange syndrome, mutation
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