ISSN 1006-298X      CN 32-1425/R

Chinese Journal of Nephrology, Dialysis & Transplantation ›› 2012, Vol. 21 ›› Issue (6): 582-586.

• Article • Previous Articles    

Polydactyly, obesity, renal insufficiency, and retinitis pigmentosa

  

  • Online:2012-12-28 Published:2012-12-31

Abstract:

ABSTRACT  A 16-years old patient with polydactyly, retinitis pigmentosa, obesity, renal cysts, chronic renal insufficiency, and gonadal dysgenesis was reported and diagnosed as Bardet-Biedl-Syndrome which is a autosomal recessive genetic disease. This report may be helpful for the clinician to know more about the characteristics of BBS.
 

Key words: Keywords  , Polydactyly , obesity  , renal cysts   , retinitis pigmentosa