{Reference Type}: Case Reports
{Title}: Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing.
{Author}: Garcia-Tizon Larroca S;Blagoeva Atanasova V;Orera Clemente M;Aluja Mendez A;Ortega Abad V;Perez Fernandez-Pacheco R;De León Luis J;Gamez Alderete F;
{Journal}: Clin Case Rep
{Volume}: 5
{Issue}: 4
{Year}: Apr 2017
暂无{DOI}: 10.1002/ccr3.859
{Abstract}: 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.