잠시만 기다려 주세요. 로딩중입니다.

Edwards syndrome의 2例 Two Cases cf Edwards Syndrome

소아과 1978년 19권 6호 p.23 ~ 30
김기복, 李光燮, 李德雄,
소속 상세정보
김기복 (  ) 
光州基督病院 小兒科

李光燮 (  ) 
光州基督病院 小兒科
李德雄 (  ) 
光州基督病院 小兒科

Abstract


In this report two cases of Edwards sydrome were presented. The first case is a 3-Year-old girl, born to a mother of 27 years and a 35-year-old father, both normal. Two sisters were normal and no history contriEutory to malformation was noted. She has severe mental retardation, multipl eske´.etal deformities typical of the syndrome, such as, rockerbottom feet, talipes calcaneovalgus and finger deformities. There was no evidence of gross malformation of vital organs, which seems to be related to the long survival, and to the low incidence of abnormal cells. Karyotyping revealed trisomy-18 in about 8% of cell population, about half of them having deletion of short arms of the excessrVe chromosome, and normal cells in about 7096. About 596 showed monosomy-18 which cannot be attributed solely to technical errors, and the significance of this finding is still in question.
The second case is a male, born to a 42-year-old mother and a 43-Year-old father, with 3 normal siblings. He was born under-weight and underdeveloped with major apparent malformations and could not survive a day. He also had typical skeletal deformities and hydrocephalus. Chromosomal analysis revealed 47 chromosomes and hydrocephalus. Chromosomal analysis revealed 47 chromosomes and trisomy-18 in all cells. Autopsy confirmed the major abnormalities. and found immaturities of vital organs and endocarditis as the cause of death.

키워드

원문 및 링크아웃 정보

등재저널 정보

KoreaMed
KAMS