%0 Case Reports
%T Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing.
%A Garcia-Tizon Larroca S
%A Blagoeva Atanasova V
%A Orera Clemente M
%A Aluja Mendez A
%A Ortega Abad V
%A Perez Fernandez-Pacheco R
%A De León Luis J
%A Gamez Alderete F
%J Clin Case Rep
%V 5
%N 4
%D Apr 2017
%M 28396767
暂无%R 10.1002/ccr3.859
%X Bardet-Biedl syndrome (BBS) is a ciliopathy that is responsible for multiple visceral abnormalities. This disorder is defined by a combination of clinical signs, many of which appear after several years of development. BBS may be suspected antenatally based on routine ultrasound findings of enlarged hyperechogenic kidneys and postaxial polydactyly.