title: Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing.
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.
authors.affiliation: Fetal medicine unit Department of Obstetrics and Gynaecology Hospital General Universitario Gregorio Marañon Madrid Spain.
authors.forename: Santiago
authors.identifier: 0000-0003-0520-1170
authors.initials: S
authors.lastname: Garcia-Tizon Larroca
authors.affiliation: Fetal medicine unit Department of Obstetrics and Gynaecology Hospital General Universitario Gregorio Marañon Madrid Spain.
authors.forename: Vangeliya
authors.initials: V
authors.lastname: Blagoeva Atanasova
authors.affiliation: Fetal medicine unit Department of Obstetrics and Gynaecology Hospital General Universitario Gregorio Marañon Madrid Spain.
authors.forename: Maria
authors.initials: M
authors.lastname: Orera Clemente
authors.affiliation: Fetal medicine unit Department of Obstetrics and Gynaecology Hospital General Universitario Gregorio Marañon Madrid Spain.
authors.forename: Anna
authors.initials: A
authors.lastname: Aluja Mendez
authors.affiliation: Fetal medicine unit Department of Obstetrics and Gynaecology Hospital General Universitario Gregorio Marañon Madrid Spain.
authors.forename: Virginia
authors.initials: V
authors.lastname: Ortega Abad
authors.affiliation: Fetal medicine unit Department of Obstetrics and Gynaecology Hospital General Universitario Gregorio Marañon Madrid Spain.
authors.forename: Ricardo
authors.initials: R
authors.lastname: Perez Fernandez-Pacheco
authors.affiliation: Fetal medicine unit Department of Obstetrics and Gynaecology Hospital General Universitario Gregorio Marañon Madrid Spain.
authors.forename: Juan
authors.initials: J
authors.lastname: De León Luis
authors.affiliation: Fetal medicine unit Department of Obstetrics and Gynaecology Hospital General Universitario Gregorio Marañon Madrid Spain.
authors.forename: Francisco
authors.initials: F
authors.lastname: Gamez Alderete
keywords: Bardet–Biedl syndrome; hyperechogenic kidneys; prenatal diagnosis