Bardet biedl syndrome: a rare occurrence

Authors

  • Kavita Tiwari Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan
  • Suresh Meena Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan
  • Suresh Goyal Department of Pediatrics, RNT Medical College, Udaipur, Rajasthan

DOI:

https://doi.org/10.18203/2349-3291.ijcp20163707

Keywords:

BBS, Obesity, Polydactyly, Retinitis pigmentosa

Abstract

The bardet-biedl syndrome (BBS) is a rare autosomal recessive genetic disorder that affects many body systems. It is characterized principally by obesity, retinitis pigmentosa, polydactyly, hypogonadism, kidney abnormalities and learning difficulties. We hereby present a 14 year old male patient exhibiting characteristic features of bardet biedl syndrome (BBS) along with a brief review of the literature.  

References

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Vanikar AV, Gumber MR, Patel HV, Shah PR, Patil SB, Trivedi HL. Bardet-biedl syndrome: a rare cause of chronic kidney disease. Indian J Clin Biochem. 2013;28:201-5.

Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. New criteria for improved diagnosis of bardet-biedl syndrome: results of a population survey. J Med Genet. 1999;36:437-46.

Kumar S, Mahajan BB, Mittal J. Bardet-biedl syndrome: a rare case report from North India. Search Results. Indian J Dermatol Venereol Leprol. 2012;78:228.

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Published

2016-12-22