ea0099ep663 | Diabetes, Obesity, Metabolism and Nutrition | ECE2024
Augusto Silva Leandro
, Varela Cunha Goncalo
, Pina Rui
, Barbosa Benilde
, Pereira de Moura Jose
, Santos Lelita
Introduction: Bardet-Biedl Syndrome is a rare autosomal recessive disease characterized by defects in multiple organ systems, presenting with diverse clinical manifestations such as retinopathy, polydactyly, obesity, intellectual developmental disorders, hypogonadism, renal dysfunction, among others.Clinical Case 1: 49-years-old female, case index, followed multidisciplinary since the age of three due to progressive night blindness from generalized retin...