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CASE REPORT
Year : 2016  |  Volume : 3  |  Issue : 2  |  Page : 128-130

Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism


Department of Medicine, Government Medical College, Haldwani, Uttarakhand, India

Correspondence Address:
Yatendra Singh
Room No 32, Sr Hostel Government Medical College, Haldwani - 263 139, Uttarakhand
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2348-3334.177635

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Bardet–Biedl syndrome (BBS) is a rare, genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. The accepted major criteria for diagnosis include retinal dystrophy, obesity, polydactyly, male hypogonadism, mental retardation, and renal dysfunction. We are presenting a 20-year-old male patient exhibiting characteristic features of BBS in association with nonalcoholic steatohepatitis, hypertension, and hypothyroidism, which is uncommon. Literature is also reviewed in brief.


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