Bardet-Biedl Syndrome: A Rare Entity
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 ob...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Jaypee Brothers Medical Publisher
2022-08-01
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| Series: | Journal of South Asian Association of Pediatric Dentistry |
| Subjects: | |
| Online Access: | https://www.jsaapd.com/doi/JSAAPD/pdf/10.5005/jp-journals-10077-3224 |
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| Summary: | 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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| ISSN: | 2582-1024 |