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...

Full description

Bibliographic Details
Main Authors: Yatendra Singh, Makrand Singh, Sandeep Raj Saxena, Soniya Prakash, Arun Joshi
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2016-01-01
Series:CHRISMED Journal of Health and Research
Subjects:
Online Access:http://www.cjhr.org/article.asp?issn=2348-3334;year=2016;volume=3;issue=2;spage=128;epage=130;aulast=Singh
id doaj-9929ebff166e4e28907c89ef73acea09
record_format Article
spelling 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 AT yatendrasingh bardetbiedlsyndromewithnonalcoholicsteatohepatitishypertensionandhypothyroidism
AT makrandsingh bardetbiedlsyndromewithnonalcoholicsteatohepatitishypertensionandhypothyroidism
AT sandeeprajsaxena bardetbiedlsyndromewithnonalcoholicsteatohepatitishypertensionandhypothyroidism
AT soniyaprakash bardetbiedlsyndromewithnonalcoholicsteatohepatitishypertensionandhypothyroidism
AT arunjoshi bardetbiedlsyndromewithnonalcoholicsteatohepatitishypertensionandhypothyroidism
_version_ 1725082903922081792