An Infant With Primrose Syndrome: A Case Report

Primrose syndrome is a rare autosomal dominant disorder that is characterized by recognizable facial phenotype, sensorineural hearing loss, hypotonia, and developmental delay. All reported probands show de novo ZBTB20 pathogenic variant. Since its discovery in 1982, Primrose syndrome has remained an underdiagnosed condition. Awareness of presentation and prompt diagnostic workup are crucial for early identification and proper management. In this case report, we discuss a case of Primrose syndrome diagnosed in an infant born at Wellspan Hospital in York, PA. The patient exhibited classic phenotypic features, including a high hairline, high-arched palate, and brachycephaly at birth, as well as an absent corpus callosum observed on postnatal MRI and genotypic findings of a pathogenic variant in ZBTB20.