Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing.
Santiago García-Tizón LarrocaVangeliya Blagoeva AtanasovaMaria Orera ClementeAnna Aluja MendezVirginia Ortega AbadRicardo Perez Fernandez-PachecoJuan De León LuisFrancisco Gamez AlderetePublished in: Clinical case reports (2017)
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.