Edwards Syndrome: an autopsy case.
- Author:
So Young JIN
;
Woo Hee JUNG
;
Chang Ho HONG
- Publication Type:Case Report
- MeSH:
Infant;
Male;
Female;
Infant, Newborn;
Humans;
Incidence
- From:Korean Journal of Pathology
1986;20(3):343-348
- CountryRepublic of Korea
- Language:Korean
-
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 with prominent occiput, large flabby ears, microphthalmia, and micrognathia, bilateral clenched hands with flexion contraction of middle fingers, and bilateral rockerbottom 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.
