S mith– M agenis Syndrome Associated With Oropharyngeal Teratoma Detected in the Prenatal Period: A Case Report

This report presents the first prenatal diagnosis of an oropharyngeal teratoma associated with Smith-Magenis syndrome (SMS). At 21 weeks of gestation, polyhydramnios, fetal cardiac anomalies, ventriculomegaly, and an oropharyngeal mass were identified. Advanced prenatal imaging and genetic methods identified the del(17)(p11.2) microdeletion confirming the SMS diagnosis. The results obtained were further verified through postmortem fluorescence in situ hybridization (FISH) analysis. Preterm delivery occurred at 27 weeks of gestation, and histopathological examination confirmed an immature teratoma. This case highlights the importance of advanced prenatal imaging and molecular cytogenetic techniques in detecting rare microdeletion syndromes and unusual phenotypic associations, thereby expanding our understanding of the phenotypic variability of SMS.