Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism
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 ar...
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2016-01-01
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doaj-9929ebff166e4e28907c89ef73acea092020-11-25T01:32:09ZengWolters Kluwer Medknow PublicationsCHRISMED Journal of Health and Research2348-33342348-506X2016-01-013212813010.4103/2348-3334.177635Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidismYatendra SinghMakrand SinghSandeep Raj SaxenaSoniya PrakashArun JoshiBardet–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.http://www.cjhr.org/article.asp?issn=2348-3334;year=2016;volume=3;issue=2;spage=128;epage=130;aulast=SinghBardet–Biedl syndromehypertensionhypothyroidismnonalcoholic steatohepatitisobesitypolydactylyretinitis pigmentosa |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Yatendra Singh Makrand Singh Sandeep Raj Saxena Soniya Prakash Arun Joshi |
spellingShingle |
Yatendra Singh Makrand Singh Sandeep Raj Saxena Soniya Prakash Arun Joshi Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism CHRISMED Journal of Health and Research Bardet–Biedl syndrome hypertension hypothyroidism nonalcoholic steatohepatitis obesity polydactyly retinitis pigmentosa |
author_facet |
Yatendra Singh Makrand Singh Sandeep Raj Saxena Soniya Prakash Arun Joshi |
author_sort |
Yatendra Singh |
title |
Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism |
title_short |
Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism |
title_full |
Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism |
title_fullStr |
Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism |
title_full_unstemmed |
Bardet–Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism |
title_sort |
bardet–biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism |
publisher |
Wolters Kluwer Medknow Publications |
series |
CHRISMED Journal of Health and Research |
issn |
2348-3334 2348-506X |
publishDate |
2016-01-01 |
description |
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. |
topic |
Bardet–Biedl syndrome hypertension hypothyroidism nonalcoholic steatohepatitis obesity polydactyly retinitis pigmentosa |
url |
http://www.cjhr.org/article.asp?issn=2348-3334;year=2016;volume=3;issue=2;spage=128;epage=130;aulast=Singh |
work_keys_str_mv |
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