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A CASE OF BARDET BIEDEL SYNDROME

SUDHAN .

Abstract


BardetBiedl syndrome is a Ciliopathic human  genetic disorder with variable expressivityand a wide range of clinical variability observed both within and between                    families.The main clinicalfeatures are Rod-cone dystrophy( atypical retinitis pigmentosa) , Polydactyly, Obesity,                    Mentalretardation, Hypogonadism in males, complex                 urogenital malformations in females, Renal anomaliesand other secondary features. The syndrome is familial and is transmitted as an autosomal recessivetrait. we like to report a case of Bardet Biedel syndrome because of its rarity in INDIA as only lessthan 15 cases have been reported till now.


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References


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