title: Additional features of unique Primrose syndrome phenotype.
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.
authors.affiliation: Medical Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia-DF, Brazil. danielcarvalho@sarah.br
authors.forename: Daniel Rocha
authors.initials: DR
authors.lastname: Carvalho
authors.forename: Carlos Eduardo
authors.initials: CE
authors.lastname: Speck-Martins
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D001938:Brazil; D002114:Calcinosis / Q000473:pathology*; D002648:Child; D004427:Ear Diseases / Q000473:pathology*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000473:pathology*; D007621:Karyotyping; D008297:Male; D009133:Muscular Atrophy / Q000473:pathology*; D010641:Phenotype; D055815:Young Adult