Title : Primrose syndrome: The blossoming of a rare genetic disorder
Abstract:
Primrose syndrome is a rare autosomal dominant disorder with less than 1000 reported cases in the United States. All reported probands show de novo ZBTB20 pathogenic variant and are characterized by recognizable facial phenotype, macrocephaly with developmental delay, sensorineural hearing loss, ocular anomalies, calcification of the ear cartilage, corpus callosum anomalies, intellectual disability, hypothyroidism, and diabetes mellitus. In this case report presentation, we will discuss a case of Primrose Syndrome diagnosed in an infant born at Wellspan Hospital in York, PA. The patient demonstrated classic phenotypic features including, high hairline, high-arched palate, and brachycephaly at birth, absent corpus callosum on postnatal MRI and genotypic findings of pathogenic variant in ZBTB20.
Audience Take Away Notes:
- The audience will learn about clinical presentation, imaging, diagnosis, and management for a newborn patient with a rare genetic condition known as Primrose Syndrome.
- They will learn about the utility of genetic testing, genotyping, and how it can be used to differentiate various diagnoses that present with developmental delay, intellectual disability, and characteristic facies.
- This presentation will also demonstrate the utility of the multidisciplinary care in diagnosing and managing a patient with a rare condition, an approach that the audience can bring back to their own practice.
- With few reported cases of this condition, this presentation will provide new information to the audience and raising awareness of Primrose Syndrome.
