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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