Searchable abstracts of presentations at key conferences in endocrinology

ea0063p300 | Reproductive Endocrinology 1 | ECE2019

Bardet-Biedl syndrome in two siblings: a rare entity

Al Salam Randa Abd , El Meligy Amr , Attia Waheed , Salam Randa

Introduction: Bardet–Biedl syndrome (BBS) is a rare genetic ciliopathy with a prevalence of 1 in 160,000 in Europeans and 1 in 13,500 in some Arab populations The primary clinical features of BBS include retinal dystrophy, obesity, postaxial polydactyly, renal dysfunction, learning difficulties, and hypogonadism. Traditionally, BBS is clinically diagnosed when a patient shows 4 primary featuresCase report: 17 year old male, single, worker, presented...