1.
Clin Case Rep
; 5(4): 449-453, 2017 Apr.
Article
in English
| MEDLINE
| ID: mdl-28396767
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.