Edwards 증후군 -1부검례 보고-
Edwards Syndrome -an autopsy case-
진소영, 정우희, 홍창호,
소속 상세정보
진소영 ( )
연세대학교 의과대학 병리학교실
정우희 ( )
연세대학교 의과대학 병리학교실
홍창호 ( )
연세대학교 의과대학 소아과학교실
KMID : 0357919860200030343
Abstract
Edwards syndrome is first introduced by Edwards and characterized by facial
anomalies, multiple cardiovascular, gastrointestinal, urogenital, and skeletal malformations.
It results from triplication of part or all of chromosome 18 in some or all of the
patient's cells. It has an incidence of 1 in 4,500 live births or less and short life
expectancy. Recently we experienced a case of 3, day, old female new born infant with
this syndrome. Post mortem examination showed progeric face withprominent occiput,
large flabby ears, microphthalmia, and micrognathia, bilateral clenched hands with flexion
contraction of middle fingers, and bilateral rocker-bottom feet. Internal examination
revealed horseshoe kidney, esophageal atresia with tracheoesophageal fistula, two
accessory spleens, and multiple cardiac anomalies. A trisomy 18 was confirmed by the
cytogenetic study.
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