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Table 2 Common major structural malformations in the trisomy 18 syndrome

From: The trisomy 18 syndrome

Frequency

Organ/System

Prevalent type of malformation

Common (>75%)

heart

septal defects, patent ductus arteriosus, and polyvalvular disease

Frequent (25-75%)

genitourinary

horseshoe kidney

Less frequent (5-25%)

gastrointestinal

omphalocele, esophageal atresia with tracheo-esophageal fistula, pyloric stenosis, Meckel diverticulum

central nervous system

cerebellar hypoplasia, agenesis of corpus callosum, polymicrogyria, spina bifida

craniofacial

orofacial clefts

eye

microphthalmia, coloboma, cataract, corneal opacities

limb

radial aplasia/hypoplasia

  1. From Jones[52], Baty et al.[49].