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Case Reports
. 2011 Jun;155A(6):1379-83.
doi: 10.1002/ajmg.a.33955. Epub 2011 May 12.

Additional features of unique Primrose syndrome phenotype

Daniel Rocha Carvalho  1 , Carlos Eduardo Speck-Martins
Affiliations
Case Reports

Additional features of unique Primrose syndrome phenotype

Daniel Rocha Carvalho et al. Am J Med Genet A. 2011 Jun.

Abstract

Primrose syndrome is a unique condition of intellectual disability, dysmorphic facial features, and specific minor abnormalities including large calcified ear auricles. Only six patients have been previously reported. We describe a Brazilian boy with the striking similar facies and the main clinical findings that reinforced the singular phenotype of this rare disorder. The key features of all patients already published were compared. Our young patient has abnormalities that were not observed in preceding reports: nail dysplasia and hyperuricemia.

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