Dr.Vechalapu bhagyasri

Dr.Rama Bharathi Nela

Abstract

Purpose – To report a case of Laurence moon bardet biedl syndrome
Introduction – it is an autosomal recessive ciliopathy disorder. Main features are pigmentary retinopathy, central obesity, post axial polydactyly, cognitive impairment, hypogonadism and renal dysfunction. Other commonly associated secondary features are brachydactyly, syndactyly, diabetes mellitus and dental anomalies.
Discussion- This syndrome is named after George Bardet, Arthur Biedl. 21 genes have been implicated in Bardet biedl syndrome. Most commonly mutated gene is BSS1. The BSS proteins are components of the centrosome and effect the ciliary transport, hence the disease falls under the spectrum of ciliopathies .
Conclusion- diagnosis of Laurence moon bardet biedl syndrome is mainly clinical.With initiation of available treatment like oral vitamin A palmitate,we have an opportunity to slow down the progression of pigmentary retinopathy. Genetic counselling was given to parents regarding this syndrome.