Results 91 to 100 of about 7,409 (168)

Laurence Moon Bardet Biedl Syndrome-A Case Report

, 2016
Laurence Moon Bardet Biedl Syndrome is a genetic abnormality associated with disorders like retinitis, obesity, polydactyl, learning disability.
Sulaiman, S Rakesh Reddy, Dr. S Mahaboob Basha, G Indu Kaladhar   +3 more
core   +2 more sources

The Bardet-Biedl Syndrome : A Report of Two Families [PDF]

We studied four patients from two families manifesting impaired vision, obesity, hypogenitalism, polydactyly, and mental retardation, features the Bardet-Biedl syndrome, which differs from the Laurence-Moon syndrome by the presence of renal disease and ...
Fong, Man-Tat, 52880, Chang, Tong-Hwey, Wang, Vinchi, 52881, Yan, Sui-Hing, 52878, 52879   +7 more
core  

A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family

, 2013
Item does not contain fulltextBardet-Biedl Syndrome is a multisystem autosomal recessive disorder characterized by central obesity, polydactyly, hypogonadism, learning difficulties, rod-cone dystrophy and renal dysplasia.
Lies H. Hoefsloot, Hoefsloot, L.H., Azam, M., Agha, Z., Hans van Bokhoven, Zehra Agha, Iqbal, Z., Bokhoven, J.H.L.M. van, Raheel Qamar, Maleeha Azam, Zafar Iqbal, Qamar, R.   +11 more
core   +1 more source

Bardet-Biedl syndrome with syndrome X: A patient report

, 2004
Bardet-Biedl syndrome (BBS) is an autosomal recessive condition with a wide spectrum of clinical features. The principal manifestations are rod-cone dystrophy (sometimes called atypical retinitis pigmentosa), postaxial polydactyly, central obesity ...
Keskin, M, S. Kurtoğlu, Kurtoglu, Selim, M. Keskin, M.E. Atabek, Atabek, ME   +5 more
core   +1 more source

Craniopharyngioma and Bardet-Biedl syndrome - A case report

, 2001
BACKGROUND: Bardet-Biedl syndrome is a rare disorder and associated with a variety of ...
Aksu, MF, Senturk, LM, Oral, E, Erel, CT
core  

Publication Only

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

A Case Report of Bardet Biedl Syndrome in a Patient from Pakistan who Presented with Osmotic Symptoms associated with Diabetes Mellitus

International Journal of Medical Students
Background: The primary features of Bardet Biedl syndrome (BBS) are characterized by retinal degeneration, central obesity, post-axial polydactyly, intellectual impairment, hypogonadism, and renal anomalies.
Bakht Babar, Muqsit Ali Shaukat, Misbah Manzoor, Samina Bibi, Hashim Khan   +4 more
doaj   +1 more source

Bardet-bİedl sendromuna sekonder gelİşen retİna dİstrofİsİ: Olgu sunumu

, 2013
Bardet Biedl syndrome is a rare autosomal recessive condition with a wide spectrum of clinical features. Major criterias for diagnosis, include retinal dystrophy, obesity, dystrophic extremities, hypogonadism, mental retardation and renal dysfunction. In
Akçay, Betül Ilkay Sezgin, Ünlü, Cihan, Gencer, Baran, Güney, Esra, Özgürhan, Engin Bilge   +4 more
core  

[Update on Bardet-Biedl syndrome]

, 2005
Until recently, Bardet-Biedl syndrome was considered as a classic autosomal recessive condition. The disorder is defined by the association of the following clinical features: retinitis pigmentosa, polydactyly, obesity, hypogonadism, and possible mental ...
Dollfus, H., Mandel, J.-L., Flament, J., Cossée, M., Perrin-Schmitt, F., Verloes, A., Bonneau, D., Brandt, C.   +7 more
core   +1 more source

Coats-like exudative vasculopathy in a patient with Bardet-Biedl syndrome. [PDF]

Am J Ophthalmol Case Rep
Kishi E, Yokoi T, Akitomi H, Asano M, Kuroda Y, Koto T, Inoue M.   +6 more
europepmc   +1 more source