Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan

Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive (AR) disorder. It is characterized predominantly by hypogonadism, polydactyly, retinitis pigmentosa, obesity, and mental retardation. Herein, we present a classic case of LMBBS with generalized body edema, abdominal distension...

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Detalles Bibliográficos
Autores principales: Qadar, Laila Tul, Ahmed, Zohaib M, Munawar, Maham, Hasan, Choudhary A, Iqbal, Syed Umair
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6720159/
https://www.ncbi.nlm.nih.gov/pubmed/31497414
http://dx.doi.org/10.7759/cureus.4885
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author Qadar, Laila Tul
Ahmed, Zohaib M
Munawar, Maham
Hasan, Choudhary A
Iqbal, Syed Umair
author_facet Qadar, Laila Tul
Ahmed, Zohaib M
Munawar, Maham
Hasan, Choudhary A
Iqbal, Syed Umair
author_sort Qadar, Laila Tul
collection PubMed
description Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive (AR) disorder. It is characterized predominantly by hypogonadism, polydactyly, retinitis pigmentosa, obesity, and mental retardation. Herein, we present a classic case of LMBBS with generalized body edema, abdominal distension, and positive fluid thrill in a 32-year-old male. LMBBS patients are friendly with a happy predisposition, proper management, and regular examinations should be done in order to maintain healthy organ function and to avoid an early death. Renal failure is the most common cause of mortality in LMBBS patients.
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spelling pubmed-67201592019-09-06 Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan Qadar, Laila Tul Ahmed, Zohaib M Munawar, Maham Hasan, Choudhary A Iqbal, Syed Umair Cureus Genetics Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is a rare autosomal recessive (AR) disorder. It is characterized predominantly by hypogonadism, polydactyly, retinitis pigmentosa, obesity, and mental retardation. Herein, we present a classic case of LMBBS with generalized body edema, abdominal distension, and positive fluid thrill in a 32-year-old male. LMBBS patients are friendly with a happy predisposition, proper management, and regular examinations should be done in order to maintain healthy organ function and to avoid an early death. Renal failure is the most common cause of mortality in LMBBS patients. Cureus 2019-06-11 /pmc/articles/PMC6720159/ /pubmed/31497414 http://dx.doi.org/10.7759/cureus.4885 Text en Copyright © 2019, Qadar et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Qadar, Laila Tul
Ahmed, Zohaib M
Munawar, Maham
Hasan, Choudhary A
Iqbal, Syed Umair
Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan
title Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan
title_full Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan
title_fullStr Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan
title_full_unstemmed Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan
title_short Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan
title_sort laurence-moon-bardet-biedl syndrome with coexisting abdominal distension and positive fluid thrill: a rare manifestation reported in karachi, pakistan
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6720159/
https://www.ncbi.nlm.nih.gov/pubmed/31497414
http://dx.doi.org/10.7759/cureus.4885
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