Clinical Presentation and Co-Morbidities in Bardet-Biedel Syndrome: Case Series from a Single Centre.

Abstract

Introduction: Bardet-Biedl syndrome (BBS-OMIM 209900) is a rare genetic multi-system obesity syndrome with limited case reports from India. We describe a case series of BBS with varied clinical presentation and their co-morbidities.

Methods: BBS was diagnosed based on the clinical criteria by Beales et al. Their clinical presentations including the presence of primary and secondary features, metabolic profile, and systemic complications were examined.

Results: Eleven cases of BBS were analyzed over 9 years, of which the most common primary clinical manifestations were post-axial polydactyly and learning disabilities, noted in all individuals (100%). Retinitis pigmentosa and truncal obesity were present in 91% (10 out of 11). Clinical and biochemical features of hypogonadism and genital abnormalities were observed in 73% of individuals. Craniofacial dysmorphism and developmental delay were the more commonly observed secondary features, observed in 91%. Speech delay and brachydactyly/syndactyly were present in 73% of cases. Hyperactive behavioural disturbances and diabetes mellitus were noted in 45% and 18% of cases, respectively. Cataracts, hypertonia, dental malocclusion and cardiac anomalies (dextrocardia) were each observed in just one patient among the study population of 11 patients. The molecular genetics were analysed in two individuals.

Conclusion: BBS is an extremely rare clinical syndrome with clinical heterogeneity at presentation. The appropriate diagnosis of syndromic obesity and an early multi-disciplinary intervention may improve their quality of life.