Bardet biedl syndrome: a rare occurrence
DOI:
https://doi.org/10.18203/2349-3291.ijcp20163707Keywords:
BBS, Obesity, Polydactyly, Retinitis pigmentosaAbstract
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
Jones KL. Miscellaneous syndromes: bardet biedl syndrome. Smith’s Recogniable Patterns of Human Malformation. Sixth Edition: Elsevier Health. 2013:676-677.
Haque MA, Sharmin LS, Islam QT, Ekram ARMS. Bardet biedl syndrome- a case report. Journal Teachers Asso. 2007;20:56-9.
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.