An Infant With Primrose Syndrome: A Case Report

Area of Science:

• Genetics
• Pediatrics
• Rare Diseases

Background:

• Primrose syndrome is a rare autosomal dominant disorder.
• It is characterized by a distinct facial phenotype, sensorineural hearing loss, hypotonia, and developmental delay.
• Pathogenic variants in the ZBTB20 gene are consistently identified in affected individuals.

Observation:

• This case report details the diagnosis of Primrose syndrome in an infant.
• The infant presented with classic phenotypic features such as a high hairline, high-arched palate, and brachycephaly.
• Postnatal MRI revealed an absent corpus callosum.

Findings:

• The infant exhibited the characteristic facial phenotype associated with Primrose syndrome.
• Genotypic analysis confirmed a de novo pathogenic variant in the ZBTB20 gene.
• The combination of clinical features and genetic findings led to the diagnosis.

Implications:

• Early identification of Primrose syndrome is crucial for timely intervention and management.
• Increased awareness of this rare condition can improve diagnostic rates.
• Understanding the ZBTB20 gene's role is vital for comprehending the syndrome's pathogenesis.