Laurence-Moon-Bardet-Biedl Syndrome

Authors

  • JK Sahu Department of Pediatrics, All India Institute of Medical Sciences, New Delhi
  • Vandana Jain Department of Pediatrics, All India Institute of Medical Sciences, New Delhi

DOI:

https://doi.org/10.31729/jnma.166

Abstract

Laurence-Moon-Bardet-Biedl syndrome is a rare, genetically heterogeneous, autosomal recessive
inherited disorder with wide variability in expression. We report a case of Laurence-Moon-Bardet-
Biedl syndrome with typical phenotype in conjunction with nonalcoholic steatohepatitis. The
diagnosis had been missed until the patient presented at our hospital.

Key words: laurence-moon-bardet-biedl syndrome, obesity, polydactyly, retinitis pigmentosa

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Published

2008-10-01

How to Cite

Sahu, J., & Jain, V. (2008). Laurence-Moon-Bardet-Biedl Syndrome. Journal of Nepal Medical Association, 47(172). https://doi.org/10.31729/jnma.166

Issue

Section

Case Reports