National Awards “Science and Research”
NEW! RJP has announced the annually National Award for "Science and Research" for the best scientific articles published throughout the year in the official journal.
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The published medical research literature is a global public good. Medical journal editors have a social responsibility to promote global health by publishing, whenever possible, research that furthers health worldwide.
BARDET-BIEDL SYNDROME – CASE PRESENTATION
Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight, polydactyly and hypogenitalism.
Keywords: Bardet-Biedl syndrome, obesity (overweight), polydactyly