Open AccessPrenatal diagnosis of Bardet–Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing
Author(s) -
GarciaTizon Larroca Santiago,
Blagoeva Atanasova Vangeliya,
Orera Clemente Maria,
Aluja Mendez Anna,
Ortega Abad Virginia,
Perez FernandezPacheco Ricardo,
De León Luis Juan,
Gamez Alderete Francisco
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.859
Subject(s) - ciliopathy , bardet–biedl syndrome , polydactyly , medicine , prenatal diagnosis , pathology , pediatrics , fetus , genetics , pregnancy , anatomy , biology , phenotype , gene
Key Clinical Message 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.