Bardet-Biedl syndrome (BBS) is a multiorgan genetic disease which is a part of ciliopathies. The HAS (Haute Autorité de santé) published in March 2019 a new National Diagnostic and Care Protocol for Bardet Biedl syndrome. However, in practice, we face the difficulties of screening and multidisciplinary care of different complications.
We report our experience with siblings composed of an eight-year-old boy and an 18-month-old girl suffering from BBS. Our objective is to manage obesity, hypogonadism, vision disorders, with intellectual disability and behavioral disorders.
While the SBB clinic seems well defined, the genetic determinism of BBS remains complex. There is a need for an early diagnosis to guide the patient and overcome medical and social problems
19 - 21 Sep 2019
European Society for Paediatric Endocrinology