Audiological Profile in Laurencemoon Biedl Syndrome: A Case Study

Audiological Profile in Laurencemoon Biedl Syndrome: A Case Study

Laurence-Moon Biedl (LMB) syndrome is an autosomal recessive genetic disorder, characterized by structural and functional abnormalities of organs [1]. This syndrome was first described by Laurence and Moon in 1866 [2]. This syndrome is also called Bardet-Biedl syndrome (BBS) as Bardet and Biedl added additional polydactyly feature [3]. The estimated incidence is 1:160,000 in northern European p...

Audiological Profile in Laurence Moon Biedl Syndrome: a Case Study

A Case of Bardet-Biedl Syndrome

Etemadi K1, Khazaii MR2 1. MSC of Human Genetic, Molecular Medicine and Genetic department, Medical school, Hamadan University of medical sciences. 2. Assistant professor of Pediatric Urology Abstract Background: The Bardet Biedl syndrome is a heterogenous and autosomal recessive disorder. Primary features are: retinitis pigmentosa, obesity, polydactyly, mental retardation, renal abnorm...

Bardet-Biedl Syndrome: A Rare Case Report

The Bardet-Biedl syndrome (BBS) is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, post-axial polydactyly, central obesity, mental retardation and renal dysfunction. Other rare manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neuro...

[A case report of Bardet-Biedl syndrome].

The Bardet-Biedl syndrome (BBS) is a rare ciliopathic human autosomal-recessive disorder, affecting multiple organ systems. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome.