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Two Cases of Edwards Syndrome

Journal of the Korean Pediatric Society 1976;19(6):403-410.
Published online June 30, 1976.
Two Cases of Edwards Syndrome
Kibok Kim, Deuk Woong Lee, Kwang Sup Lee
Department of Pediatrics,Kwangju Christian Hospital, Kwangju, Korea
Edwards syndrome의 2例
金基福, 李德雄, 李光變
光州基督病院 小兒科
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 contributory to malformation was noted. She has severe mental retardation, multipl eskeletal 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 S% of cell population, about half of them having deletion of short arms of the excessive chromosome, and normal cells in about 70%. About 5% 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.

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