Results 1 to 10 of about 7,409 (168)

Psychosis as a rare neuropsychiatric manifestation of Bardet–Biedl syndrome: A case report [PDF]

Journal of International Medical Research
Bardet–Biedl syndrome is a rare, pleiotropic genetic disorder. Despite advances in genetic testing, the diagnosis of Bardet–Biedl syndrome remains primarily clinical, particularly in low-resource settings.
Selebogo Moremi, Mpho Hubona, Taboka Maphorisa, Anthony A Olashore   +3 more
doaj   +3 more sources

Bardet–Biedl syndrome in two sibling pairs: a case series [PDF]

Journal of Medical Case Reports
Background Bardet–Biedl syndrome is a rare multisystem ciliopathy defined by retinal dystrophy, obesity, polydactyly, hypogonadism, and renal anomalies, often accompanied by neurodevelopmental and behavioral issues.
Abdul Aziz, Muhammad Shahzil, Anfal Arshad, Muhammad Rashid Asghar, Munzir Latif, Aimon Riaz, Khuram Bashir, Nayyar Saleem, Zubair Ahmed   +8 more
doaj   +2 more sources

Incidental diagnosis of Bardet–Biedl syndrome in a case of abdominal tuberculosis: a case report [PDF]

Journal of Medical Case Reports
Background Bardet–Biedl syndrome is a rare autosomal recessive disease occurring due to a ciliopathic genetic defect. It is caused by mutations in genes encoding proteins vital for the BBSome complex.
Adithya Andanappa, Sai Santhosha Mrudula Alla, Aparna Malireddi, Prajwal Udedh, Hanisha Reddy Kukunoor, Deekshitha Alla, Uday Kumar Repalle, Bhanu Prasad Kosuru, Soujanya Tirupati, Ruth Getaneh Bayeh   +9 more
doaj   +2 more sources

A novel protein truncating mutation of TTC8 causes Bardet-Biedl Syndrome (BBS) in a Pakistani family [PDF]

Genetics and Molecular Biology
Bardet-Biedl syndrome (BBS) is a rare ciliopathic disorder that segregates in an autosomal recessive manner. Genetic studies have so far identified 26 BBS-associated genes worldwide.
Sana Fatima, Dong Sun, Jianguo Han, Ming Qiu, Safeer Ahmad, Muhammad Zubair, Muhammad Zeeshan Ali, Safdar Abbas, Maria Shafiq, Muhammad Muzammal, Hadia Gul, Jabbar Khan, Shiwei Du, Muzammil Ahmad Khan   +13 more
doaj   +3 more sources

Rare Case of Laurence–Moon–Bardet–Biedl Syndrome With Pulmonary Hypertension: A Case Report [PDF]

Clinical Case Reports
Laurence‐Moon‐Bardet‐Biedl Syndrome is a complicated polygenic disorder that can have lethal manifestations such as pulmonary hypertension. Early recognition, comprehensive medical treatment, and psychological intervention for the family are crucial, but
Areeba Mariam Mehmood, S. M. Salman Hassan, Ayesha Malik, Muhammad Faizan, Muhammad Usama bin Shabbir, Aqsa Jabeen, Allahdad Khan, Aseel Kamal   +7 more
doaj   +2 more sources

Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case Report [PDF]

Clinical Case Reports
This case report highlights the clinical complexity of Bardet‐Biedl syndrome, a rare autosomal recessive disorder, emphasizing reproductive anomalies to aid in diagnosis and management.
Azka Noor, Digbijay Kunwar, Zahra Tasneem, Saad Ameer Ishaq   +3 more
doaj   +2 more sources

Ciliary signaling proteins are mislocalized in the brains of Bardet-Biedl syndrome 1-null mice

Frontiers in Cell and Developmental Biology, 2023
In the brain, primary cilia are found on most, if not all, central neurons. The importance of neuronal cilia is underscored by the fact that human diseases caused by primary cilia dysfunction, which are known as ciliopathies, are associated with ...
Toneisha Stubbs, James I. Bingman, Jason Besse, Kirk Mykytyn   +3 more
doaj   +1 more source

Recurrent pericarditis in a patient with Bardet–Biedl syndrome: A case report

Frontiers in Pediatrics, 2022
Bardet–Biedl syndrome is a rare autosomal recessive disorder characterized by rod-cone dystrophy, renal dysfunction, obesity, learning difficulties, hypogonadism, polydactyl, and many other minor features that can affect the cardiovascular, locomotive ...
Angela Mauro, Francesca Casini, Emanuele Chittano Congedo, Sara L’assainato, Francesca Pinto, Valentina Ansuini, Ruggiero Mascolo, Alice Pedroli, Luca Bernardo   +8 more
doaj   +1 more source

Bardet–Biedl syndrome: a case series

Journal of Medical Case Reports, 2022
Background Bardet–Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod–cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity,
Omer Ali Mohamed Ahmed Elawad, Mumen Abdalazim Dafallah, Mohammed Mahgoub Mirghani Ahmed, Ahmed Abdalazim Dafallah Albashir, Sahar Mohammed Abbas Abdalla, Habiballa Hago Mohamed Yousif, Anwar Ali Elamin Daw Elbait, Moawia Elbalal Mohammed, Hassan Ismail Hassan Ali, Mohamed Mutasim Mohamed Ahmed, Najla Fouad Nassir Mohammed, Fadwa Hashim Mohamed Osman, Mussab Alnazeer Yousif Mohammed, Ejlal Ahmed Ebrahim Abu Shama   +13 more
doaj   +1 more source

A Case Report on the Bardet Biedl Syndrome with Hypokalaemic Paralysis [PDF]

Journal of Clinical and Diagnostic Research, 2013
The Bardet-Biedl syndrome (BBS), a rare autosomal recessive disorder, was first described by Bardet and Biedl in 1920. Here, we are reporting a case of the Bardet-Biedl syndrome with hypokalaemic paralysis.
Prasanth Y.M., Mohammed Ashraf, Venkatesh B.M., Sharol Menezes, Abraham Mohan   +4 more
doaj   +1 more source