Article
Additional features of unique Primrose syndrome phenotype.
American journal of medical genetics. Part A - 1 Jun 2011
Carvalho Daniel Rocha, Speck-Martins Carlos Eduardo
Abstract excerpt
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...
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