VOLUME 5 , ISSUE 2 ( May-August, 2022 ) > List of Articles
Anuja Goit, Shilpi Dutta
Keywords : Bardet-Biedl syndrome, Ciliopathy, Polydactyly
Citation Information : Goit A, Dutta S. Bardet-Biedl Syndrome: A Rare Entity. J South Asian Assoc Pediatr Dent 2022; 5 (2):88-91.
DOI: 10.5005/jp-journals-10077-3224
License: CC BY-NC 4.0
Published Online: 23-08-2022
Copyright Statement: Copyright © 2022; The Author(s).
Bardet-Biedl syndrome (BBS) is a rare ciliopathy autosomal recessive hereditary disorder due to mutation in 14 genes. It affects multiple organ systems such as renal dysfunction, congenital heart disease, ocular defect, cognitive impairment, and speech disorder and presented clinically as truncal obesity, polydactyly, along with a history of diabetes mellitus, hypertensive, and rod-cone dystrophy. Dental anomalies are also present in the majority of the affected population due to abnormal embryonic orofacial and teeth development. As a dentist, it is difficult to encounter the diagnosis of such a rare disease. Thus, here is a case report emphasizing the oral pathology associated with multiple clinical phenotypic expressions.
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