Audiological Profile in Laurencemoon Biedl Syndrome: A Case Study

Audiological Profile in Laurence Moon Biedl Syndrome: a Case Study

Laurence-moon-biedl Syndrome with Schizophrenia (a Case Report)

After the initial description of LaurenceMoon-Biedl-Syndrome in 1866, sporadic reports about it have appeared in the world literature from time to time. As is recognised, the cardinal features of the syndrome include obesity, mental retardation, retinitis pigmentosa, hypogenitalism, polydactylism and familial occurrence. While reviewing the literature one finds the rarity of presence of the com...

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 with End Stage Renal Disease

Bardet-Biedl syndrome (BBS) is one of the rare autosomal recessive disorders that affect multiple organs of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. We present a case of BBS with features of hypogonadism and features such as marked central obesity, retinitis pigmentosa, polydactyly, renal abnormalities and mental ...

A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome

Bardet-Biedl syndrome is a continuum of disorders characterized by systemic and ocular findings. Retinal abnormalities typically present as diffuse photoreceptor degeneration. Here, we report a novel case that suggests a rod-sparing variant of Bardet-Biedl syndrome.