Bardet-Biedl Syndrome Late Diagnosis with a Great Disability: A Case Report
Journal Title: Journal of Clinical and Diagnostic Research - Year 2018, Vol 12, Issue 12
Abstract
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.
Authors and Affiliations
Oriana Amata, Enrica Scalisi, Alessandro Conti, Giuseppe Umana, Matteo Cioni
Keywords
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- EP ID EP525944
- DOI 10.7860/JCDR/2018/35801.12372
- Views 101
- Downloads 0
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