Korean J Pathol.  1986 Sep;20(3):343-348.

Edwards Syndrome: an autopsy case

Affiliations
  • 1Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.
  • 2Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea.

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.


MeSH Terms

Autopsy*
Chromosomes, Human, Pair 18
Cytogenetics
Ear
Esophageal Atresia
Female
Fingers
Foot
Hand
Humans
Incidence
Infant
Kidney
Life Expectancy
Live Birth
Microphthalmos
Spleen
Tracheoesophageal Fistula
Trisomy
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