The Bardet-Biedl Syndrome (BSS) is a genetic disease based on autosomal recessive disorder characterised by non-allelic heterogeneity. The prevalence in the European population is only 1 in 160,000 live births. We observed a case of late diagnosis in a patient of 59 years. Different medical specialists, who had seen him before his admission to the hospital, separately treated his different signs and symptoms. The patient was genetically investigated with successfully confirmation of the clinical diagnosis of Bardet-Biedl syndrome was done. This case report underlines the importance of an overview of different clinical signs and symptoms and how different specialties need to collaborate to allow early diagnosis of the diseases.

Bardet-biedl syndrome late diagnosis with a great disability: A case report

Amata O.
Primo
;
Conti A.
Membro del Collaboration Group
;
Cioni M.
Ultimo
Membro del Collaboration Group
2018-01-01

Abstract

The Bardet-Biedl Syndrome (BSS) is a genetic disease based on autosomal recessive disorder characterised by non-allelic heterogeneity. The prevalence in the European population is only 1 in 160,000 live births. We observed a case of late diagnosis in a patient of 59 years. Different medical specialists, who had seen him before his admission to the hospital, separately treated his different signs and symptoms. The patient was genetically investigated with successfully confirmation of the clinical diagnosis of Bardet-Biedl syndrome was done. This case report underlines the importance of an overview of different clinical signs and symptoms and how different specialties need to collaborate to allow early diagnosis of the diseases.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.11769/489654
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