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Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan.
Cureus 2019; 11(6):e4885C

Abstract

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.

Authors+Show Affiliations

Internal Medicine, Dow University of Health Sciences (DUHS), Karachi, PAK.Internal Medicine, Dow University of Health Sciences (DUHS), Karachi, PAK.Internal Medicine, Dow University of Health Sciences (DUHS), Karachi, PAK.Internal Medicine, Dow University of Health Sciences (DUHS), Karachi, PAK.Internal Medicine, Dow University of Health Sciences (DUHS), Karachi, PAK.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

31497414

Citation

Qadar, Laila Tul, et al. "Laurence-Moon-Bardet-Biedl Syndrome With Coexisting Abdominal Distension and Positive Fluid Thrill: a Rare Manifestation Reported in Karachi, Pakistan." Cureus, vol. 11, no. 6, 2019, pp. e4885.
Qadar LT, Ahmed ZM, Munawar M, et al. Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan. Cureus. 2019;11(6):e4885.
Qadar, L. T., Ahmed, Z. M., Munawar, M., Hasan, C. A., & Iqbal, S. U. (2019). Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan. Cureus, 11(6), pp. e4885. doi:10.7759/cureus.4885.
Qadar LT, et al. Laurence-Moon-Bardet-Biedl Syndrome With Coexisting Abdominal Distension and Positive Fluid Thrill: a Rare Manifestation Reported in Karachi, Pakistan. Cureus. 2019 Jun 11;11(6):e4885. PubMed PMID: 31497414.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Laurence-Moon-Bardet-Biedl Syndrome with Coexisting Abdominal Distension and Positive Fluid Thrill: A Rare Manifestation Reported in Karachi, Pakistan. AU - Qadar,Laila Tul, AU - Ahmed,Zohaib M, AU - Munawar,Maham, AU - Hasan,Choudhary A, AU - Iqbal,Syed Umair, Y1 - 2019/06/11/ PY - 2019/9/10/entrez PY - 2019/9/10/pubmed PY - 2019/9/10/medline KW - abdominal distension KW - bardet-biedl syndrome KW - central obesity KW - chronic kidney disease KW - congenital disorder KW - consanguineous marriage KW - polydactyly KW - positive fluid thrill KW - retinitis pigmentosa SP - e4885 EP - e4885 JF - Cureus JO - Cureus VL - 11 IS - 6 N2 - 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. SN - 2168-8184 UR - https://www.unboundmedicine.com/medline/citation/31497414/Laurence-Moon-Bardet-Biedl_Syndrome_with_Coexisting_Abdominal_Distension_and_Positive_Fluid_Thrill:_A_Rare_Manifestation_Reported_in_Karachi,_Pakistan L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31497414/ DB - PRIME DP - Unbound Medicine ER -