Results 71 to 80 of about 6,135 (164)

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: Genetics, molecular pathophysiology, and disease management

Indian Journal of Ophthalmology, 2016
Primary cilia play a key role in sensory perception and various signaling pathways. Any defect in them leads to group of disorders called ciliopathies, and Bardet–Biedl syndrome (BBS, OMIM 209900) is one among them.
Sathya Priya, Sheela Nampoothiri, Parveen Sen, S Sripriya   +3 more
doaj   +1 more source

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

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

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

Efficacy of Semaglutide in Pediatric Patients With Bardet-Biedl Syndrome and Alström Syndrome. [PDF]

JCEM Case Rep
Dauleh H, Mohammed I, Hussain K.
europepmc   +1 more source