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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].