Bardet-Biedl Syndrome Late Diagnosis with a Great Disability: A Case ReportCorrespondence Address :
Via Isocrate, 19 Milano, Italy.
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.
Autosomal recessive disorder, Genetic disease, Hirschsprung’s disease
Oriana Amata, Enrica Scalisi, Alessandro Conti, Giuseppe Umana, Matteo Cioni. BARDET-BIEDL SYNDROME LATE DIAGNOSIS WITH A GREAT DISABILITY: A CASE REPORT. Journal of Clinical and Diagnostic Research [serial online] 2018 December [cited: 2018 Dec 16 ]; 12:ID01-ID02. Available from
Date of Submission: Jan 30, 2018
Date of Peer Review: Mar 24, 2018
Date of Acceptance: Sep 29, 2018
Date of Publishing: Dec 01, 2018
Financial OR OTHER COMPETING INTERESTS: None.
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