A rare case report of Edwards syndrome with immature teratoma in submandibular region and literature review

Abstract

Trisomy 18 (Edward syndrome) was first described by Edwards et al. in 1960. The condition is the second most common autosomal trisomy syndrome in males. The prevalence in infants is estimated as 1/6000-1/8000. Those affected have a high mortality rate – only 4% may survive their first year. The study illustrates the first reported case of Edwards syndrome with immature teratoma in submandibular region. A 33-year-old multigravida had a normal antenatal course until 36 weeks of gestation. Two hours after delivery, the baby was transported to a neonatal ward, where several malformations were described: a tumour formation the size of a walnut in the right submandibular region, ear abnormality, micrognathia with high arched palate, overlapping fingers, and feet deformities. A genetic test was performed which confirmed trisomy 18. After 26 days of assisted ventilation and oxygen therapy, the newborn developed hyaline-membrane disease, dilatation of the pulmonary artery and the right side of the heart, thrombosis of the right atrium and these conditions were determined to be the cause of death. The autopsy and histological examination confirmed the aforementioned malformations finding also a kidney with duplicated collecting system on the right and ectopic ureter in the left kidney. The submandibular tumour was determined to be immature teratoma. Conclusion: This is the first presented case in the literature of a newborn with Edwards syndrome combined with immature teratoma.