Renal and retinal involvement in patients with bardet-biedl syndrome /
دراسة تاثير الكلى وشبكية العين فى مرضى متلازمة باردت بيدل
Rasha Helmy Mohamed Mohamed Elgendi ; Supervised Neveen Abdelmonem Soliman , Marwa Mohamed Ibrahim Nabhan , Dina Mohamed Saied Elfayoumi
- Cairo : Rasha Helmy Mohamed Mohamed Elgendi , 2013
- 84 P. : charts , facsimiles ; 25cm
Thesis (M.Sc.) - Cairo University - Faculty of Medicine - Department of Pediatrics
Background : Bardet - biedl syndrome (BBS) is an autosomal recessive condition characterized by renal dysfunction rod- cone dystrophy postaxial polydactyly , obesity mental reardation and hypogonadism as a major criteria . Secondary features of BBS include speech delay strabismus , cataracts , brachydactyly syndactyly
Bardet- biedl syndrome End stage kidney disease Retinitis pigmentosa