Additional features of unique Primrose syndrome phenotype

Area of Science:

• Genetics
• Rare Diseases
• Clinical Medicine

Background:

• Primrose syndrome is a rare genetic disorder characterized by intellectual disability, distinctive facial features, and calcified ear auricles.
• To date, only six cases of Primrose syndrome have been documented in medical literature.

Observation:

• This report details a Brazilian boy exhibiting the characteristic facies and primary clinical findings of Primrose syndrome.
• The patient presented with unique abnormalities not previously reported in existing literature: nail dysplasia and hyperuricemia.

Findings:

• The clinical presentation of the Brazilian patient aligns with the established phenotype of Primrose syndrome.
• The presence of nail dysplasia and hyperuricemia in this case expands the known spectrum of clinical manifestations for this rare disorder.

Implications:

• This case report contributes to a broader understanding of Primrose syndrome's phenotypic variability.
• Identifying novel clinical features like nail dysplasia and hyperuricemia may aid in earlier diagnosis and management of Primrose syndrome.