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Additional features of unique Primrose syndrome phenotype
Author(s) -
Carvalho Daniel Rocha,
SpeckMartins Carlos Eduardo
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33955
Subject(s) - dermatology , medicine , phenotype , clinical phenotype , dysplasia , pediatrics , pathology , biology , genetics , gene
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. © 2011 Wiley‐Liss, Inc.