Prenatal Diagnosis of White-Sutton Syndrome Associated With Autosomal Dominant POGZ Variants Presented With Craniofacial Abnormalities and Borderline Microcephaly Identified in the Second Trimester.

What is already known about this topic? ◦. Variants of the POGZ gene cause an autosomal dominant neurodevelopmental syndrome, White–Sutton syndrome (WSS). ◦. To date, the majority of reported WSS cases have been diagnosed postnatally in individuals presenting with neurodevelopmental abnormalities. Only two prenatal cases have been documented in the literature. What does this study add? ◦. Our report reinforces microcephaly as a recurrent and potentially characteristic prenatal imaging feature of WSS. ◦. We first report fetal craniofacial anomalies, including micrognathia and auricular dysmorphism, as novel prenatal indicators suggestive of WSS.