Prenatal detection of Gorlin-Goltz syndrome: a case report and focused review of the literature.

Introduction: Gorlin-Goltz syndrome is a rare tumor-predisposing condition caused by genetic variants in the Case presentation: In this case, genetic testing was performed due to fetal hydronephrosis and omphalocele. Additional features included macrocephaly with hypertelorism and agenesis of the corpus callosum. Genetic testing revealed a heterozygous Discussion: In the presence of typical prenatal features, this genetic variant was reclassified as likely pathogenic for Gorlin-Goltz syndrome. As prenatal features are often non-specific, and hydronephrosis and omphalocele are relatively common, Gorlin-Goltz syndrome should be included in the differential diagnosis during genetic testing for these fetal anomalies, particularly when additional syndromic features are present. Close interdisciplinary teamwork between prenatal ultrasound specialists and geneticists is essential to correctly evaluate non-specific fetal abnormalities and establish an accurate diagnosis in the fetus. Sometimes, as in this case, this process can lead to the reclassification of known genetic variants or even the identification of novel variants.