Results 71 to 80 of about 6,126 (165)

Bardet Biedl Syndrome

Journal of Nepal Paediatric Society, 2013
This is a case report of Bardet-Biedl syndrome, diagnosed in a 8 year old girl presented with obesity. She had polydactyly, mild mental retardation, retinitis pigmentosa in both eyes, with hypoplastic uterus, fallopian tube and ovaries. She was born to a consanguinous marriage and had a family member with same features.
Bhusan Chaki, Prabhat Kumar, Sananda Pati, Sangita De, Taraknath Ghosh   +4 more
openaire   +2 more sources

Bardet-Biedl syndrome: a multisystem disorder with rare dermatological manifestations

Journal of the Pakistan Medical Association
Bardet-Biedl syndrome (BBS) is a disorder of primary ciliary dysfunction, having a wide range of systemic and dermatological manifestations. We report the case of a nine-year-old patient having multiple erythematous plaques over the dorsal surface of ...
Ghafoor Ullah, Sidra Shabbir, Hanniya Marwat, Fahad Faizullah, Maisan Qadir, Maryam Sardar   +5 more
doaj   +1 more source

Bardet–Biedl syndrome: A case report

Annals of Medical Science and Research
Bardet–Biedl syndrome is a rare autosomal recessive disorder, categorized with ciliopathy (non-motile) disorders, which affect multiple systems. We diagnosed this rare syndrome in an adult male with a history of blindness, who presented with abdominal ...
Aakash Pandey, Prashasti Gupta, Priya Bansal, Ramesh Aggarwal, Motilal Negi   +4 more
doaj   +1 more source

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−Biedl Syndrome [PDF]

, 2020
  +4 more sources

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

From Usher syndrome to Bardet-Biedl syndrome: Diagnosis after an atypical presentation. [PDF]

Clin Nephrol Case Stud
Milheiro J, Pinto R, Veiga C, Dias A, Pêgo C, Lemos S.   +5 more
europepmc   +1 more source

Atypical Retinitis Pigmentosa With Systemic Features in Bardet-Biedl Syndrome. [PDF]

Clin Case Rep
Ahsan MU, Shaheen S, Ahmed S.
europepmc   +1 more source

Clinical heterogeneity associated with Bardet-Biedl syndrome-related genes in presumed non-syndromic inherited retinal disease. [PDF]

Front Cell Dev Biol
Azab B, Aburizeg D, Al-Slaimieh A, Naser Aldeen R, Hyasat A, Alrefae A, Albooz R, AlAref A, Alrefae AMK, Obeidat M, Hadidy A, Abu-Ameerh M, Al-Bdour M, Maswadi R, Al-Nawaiseh I.   +14 more
europepmc   +1 more source