PHENOTYPIC VARIABILITY IN EDWARDS SYNDROME: SYNOPSIS OF 19 CASES WITH TRISOMY 18

Edwards Syndrome is the second most common autosomal trisomy syndrome after trisomy 21, with a liveborn prevalence of 1/10,000. ES is characterized by variable clinical manifestations, with involvement of multiple organs and systems. ES is produced by trisomy 18, and most cases present a complete and homogeneous chromosomal aneuploidy. Aim: To identify the clinical suggestive features of ES. Material and methods: We performed in Iasi Medical Genetics Center a retrospective study on 12 years (2003-2015) and we discovered 19 patients with trisomy 18. Results: 18 patients had a complete trisomy and 1 case presented a partial trisomy. The frequent clinical features were: intrauterine growth retardation, micrognathia, dysplastic ears, dolichocephaly, heart defects, prominent calcaneus, overriding fingers and preterm birth. Also, we identified an increased frequency of caesareans procedures. The common visceral anomalies were cardiac and most frequent such anomalies were: ventricular septal defect and patent ductus arteriosus. Other visceral anomalies were: horseshoe kidney, esophageal atresia and hydrocephalus. Breech presentation was a common feature. Conclusions: Edwards syndrome is suspected in patients with the associations of the following features: growth retardation, typical craniofacial dysmorphism, heart defects, prominent calcaneus, overriding fingers and preterm birth. Gastrointestinal and renal anomalies are common features.