hrp0092p3-189 | Multisystem Endocrine Disorders | ESPE2019

Bardet-Biedl Syndrome: Not Only what but also how Matters?

Boutalbi Narjess , Selim Nihad , Nait Abdallah Mohamed Said , Bouchair Nadira

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...