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Edward syndrome (Trisomy 18): A case report | Abstract
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Abstract

Edward syndrome (Trisomy 18): A case report

Author(s): Ezhil Arasi Nagamuthu and Neelala Neelaveni

The trisomy 18 syndrome (Edwards syndrome) is an autosomal chromosomal disorder due to the presence of an extra chromosome 18. The main clinical features include prenatal growth retardation, characteristic craniofacial features, distinctive hand posture, nail hypoplasia, short hallux, short sternum and major malformations of heart. One such case at 22-24 weeks of gestation was terminated and its case report was illustrated with the phenotypic features and fetal autopsy. The demonstration of an extra chromosome 18 on the karyotype added to the clinical diagnosis.