Authors :
Dr. Ghantasala Raghava; Dr. Santhosh Hajare
Volume/Issue :
Volume 10 - 2025, Issue 2 - February
Google Scholar :
https://tinyurl.com/2uwvwr2s
Scribd :
https://tinyurl.com/mrvsrzjz
DOI :
https://doi.org/10.38124/ijisrt/25feb1191
Note : A published paper may take 4-5 working days from the publication date to appear in PlumX Metrics, Semantic Scholar, and ResearchGate.
Abstract :
Laurence-Moon-Bardet-Biedl Syndrome (LMBBS) is a rare autosomal recessive disorder characterized by
multisystem involvement, primarily affecting vision, cognition, endocrine, renal, and skeletal systems. Here, we present a
case of a 29-year-old male diagnosed with LMBBS who also exhibited features of chronic liver disease (CLD), an association
not commonly reported. This case highlights the importance of a multidisciplinary approach for managing LMBBS patients
and the potential implications of hepatic involvement.
Keywords :
Laurence-Moon-Bardet-Biedl Syndrome, Chronic Liver Disease, Hepatic Fibrosis, Autosomal Recessive, Multisystem Disorder.
References :
- Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. J Med Genet. 1999;36(6):437-446.
- Forsythe E, Beales PL. Eur J Hum Genet. 2013;21(1):8-13.
- Zaghloul NA, Katsanis N. J Clin Invest. 2009;119(3):428-437.
- Moore BS, Badano JL, Katsanis N. Nat Rev Genet. 2004;5(6):488-498.
Laurence-Moon-Bardet-Biedl Syndrome (LMBBS) is a rare autosomal recessive disorder characterized by
multisystem involvement, primarily affecting vision, cognition, endocrine, renal, and skeletal systems. Here, we present a
case of a 29-year-old male diagnosed with LMBBS who also exhibited features of chronic liver disease (CLD), an association
not commonly reported. This case highlights the importance of a multidisciplinary approach for managing LMBBS patients
and the potential implications of hepatic involvement.
Keywords :
Laurence-Moon-Bardet-Biedl Syndrome, Chronic Liver Disease, Hepatic Fibrosis, Autosomal Recessive, Multisystem Disorder.