Literature DB >> 33585106

Primary Hypertension as the Presenting Feature of Laurence-Moon-Bardet-Biedl Syndrome: A Report of Two Children.

Vijayakumary Thadchanamoorthy1, Nadeesha Jayasekara2, Kavinda Dayasiri3.   

Abstract

Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare ciliopathic genetic multisystem disorder. It has several primary and secondary clinical features, which include central obesity, retinitis pigmentosa, mental subnormalities, polydactyly, and renal dysfunction. The majority of children may not show all clinical features at birth, and clinical features can develop progressively over the years. The authors report two children who were followed up for obesity at the pediatric clinic in the local hospital and the ophthalmology clinic at the tertiary care center, respectively, without a diagnosis, and were referred for specialist pediatric evaluation of hypertension detected on their routine checkup and for further management. Both children were investigated and found to have satisfied criteria for LMBBS in association with primary hypertension. Both children were diagnosed late as LMBBS at 12 years and four years of their age although both of them had enough features to have a suspicion of this syndrome.
Copyright © 2021, Thadchanamoorthy et al.

Entities:  

Keywords:  autosomal recessive; brachydactyly; hypertension; hypogonadism; laurence-moon-bardet-biedl syndrome; obesity; polydactyly; retinitis pigmentosa

Year:  2021        PMID: 33585106      PMCID: PMC7873780          DOI: 10.7759/cureus.12617

Source DB:  PubMed          Journal:  Cureus        ISSN: 2168-8184


  6 in total

1.  Bardet-Biedl syndrome: a rare case report from North India.

Authors:  Sumir Kumar; Bharat B Mahajan; Jyotisterna Mittal
Journal:  Indian J Dermatol Venereol Leprol       Date:  2012 Mar-Apr       Impact factor: 2.545

2.  New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

Authors:  P L Beales; N Elcioglu; A S Woolf; D Parker; F A Flinter
Journal:  J Med Genet       Date:  1999-06       Impact factor: 6.318

Review 3.  Bardet-Biedl Syndrome.

Authors:  Evgeny N Suspitsin; Evgeny N Imyanitov
Journal:  Mol Syndromol       Date:  2016-04-15

Review 4.  Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review.

Authors:  Luis Jesuino de Oliveira Andrade; Rafael Andrade; Caroline Santos França; Alcina Vinhaes Bittencourt
Journal:  Arq Bras Oftalmol       Date:  2009 Sep-Oct       Impact factor: 0.872

Review 5.  Exploring the molecular basis of Bardet-Biedl syndrome.

Authors:  N Katsanis; J R Lupski; P L Beales
Journal:  Hum Mol Genet       Date:  2001-10-01       Impact factor: 6.150

6.  Hypokalemic paralysis and megaloblastic anaemia in Laurence-Moon-Bardet-Biedl syndrome.

Authors:  Amanullah Abbasi; Nazish Butt; Baseer Sultan; S M Munir
Journal:  J Coll Physicians Surg Pak       Date:  2009-03       Impact factor: 0.711

  6 in total

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