Results 21 to 30 of about 6,126 (165)

Burden of hyperphagia and obesity in Bardet–Biedl syndrome: a multicountry survey

Orphanet Journal of Rare Diseases, 2023
Background Signs and symptoms of Bardet–Biedl syndrome (BBS) occur during early childhood, progress over time, and place substantial, multifaceted burden on patients and their caregivers. Hyperphagia may be a contributing factor to early-onset obesity in
Elizabeth Forsythe, Usha G. Mallya, Min Yang, Caroline Huber, Mary Lynn Cala, Alexandra Greatsinger, Ella Hagopian, Jeremy Pomeroy, Andrea M. Haqq   +8 more
doaj   +1 more source

A rare combination: Bardet–Biedl syndrome with atypical retinitis pigmentosa and optic disc drusen

Indian Journal of Ophthalmology. Case Reports, 2023
A 19-year-old male presented with night blindness and gradual diminution of vision since 5 years. Clinical examination and investigations revealed bilateral atypical retinitis pigmentosa (punctata albescens) with foveal atrophy and optic disc drusen.
Gulshan Barwar, Swapnil M Parchand, Anil B Gangwe, Deepshikha Agrawal   +3 more
doaj   +1 more source

Bardet—Biedl Syndrome and Cystinuria

Renal Failure, 1992
An unusual association of Bardet-Biedl syndrome with cystinuria was described in one patient. A 21-year-old male was admitted to hospital because of renal failure, severe deterioration of visual acuity, polydactyly, brachydactyly, and mental retardation. Laboratory investigations revealed a serum creatinine of 292 mumol/L (3.3 mg/dL) and a GFR of 25 mL/
DE MARCHI S, CECCHIN E, BARTOLI, Ettore Giuseppe   +2 more
openaire   +2 more sources

Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report

Journal of Medical Case Reports, 2011
Background Bardet-Biedl syndrome is a significant genetic cause of chronic kidney disease in children. Kidney abnormalities are a major cause of morbidity and mortality in Bardet-Biedl syndrome, but the onset of end-stage renal disease at an early age ...
Marshall Jan D, Mihai Cristina M, Stoicescu Ramona M   +2 more
doaj   +1 more source

Bardet–Biedl syndrome with choledochal cyst: Rare association with a novel variant

Journal of Indian Association of Pediatric Surgeons, 2023
Bardet–Biedl syndrome is an autosomal-recessive ciliopathic disorder affecting multiple organ systems. Characteristic features include progressive retinal dystrophy, obesity, polydactyly hypogonadism, mental retardation, and renal disorders.
Saket Kumar, A G Harisankar, Nidhi Singh, Singh Rakesh Kumar, Nilay Mayank   +4 more
doaj   +1 more source

A Rod-Sparing Retinopathy in Bardet-Biedl Syndrome

Case Reports in Ophthalmology, 2015
Bardet-Biedl syndrome is a continuum of disorders characterized by systemic and ocular findings. Retinal abnormalities typically present as diffuse photoreceptor degeneration.
Cynthia S. Chiu, Dimosthenis Mantopoulos, Simmons Lessell, Dean M. Cestari   +3 more
doaj   +1 more source

Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results

Orphanet Journal of Rare Diseases, 2023
Background Bardet–Biedl syndrome is a rare genetic disease associated with hyperphagia and early-onset, severe obesity. There is limited evidence on how hyperphagia and obesity affect health-related quality of life in patients with Bardet–Biedl syndrome,
Elizabeth Forsythe, Robert M. Haws, Jesús Argente, Philip Beales, Gabriel Á. Martos-Moreno, Hélène Dollfus, Costel Chirila, Ari Gnanasakthy, Brieana C. Buckley, Usha G. Mallya, Karine Clément, Andrea M. Haqq   +11 more
doaj   +1 more source

Report of four cases of Bardet-Biedl syndrome

Brazilian Journal of Nephrology, 2014
Bardet-Biedl syndrome is rare. Although its diagnosis depends on cardinal clinical manifestations which appear in childhood, we report four cases of Bardet-Biedl syndrome lately diagnosed in a dialysis center.
Paulo Roberto Santos, Diego Levi Silveira Monteiro, Paulo Henrique Alexandre de Paula, Vicente Lopes Monte Neto   +3 more
doaj   +1 more source

Prenatal diagnosis of Bardet Biedl Syndrome: A case report

Radiology Case Reports, 2023
The Bardet-Biedl Syndrome (BBS), also called Laurence-Moon-Bardet-Biedl syndrome is a rare ciliopathic autosomal recessive genetic defect. BBS phenotype develops over the years and diagnosis is usually made in late childhood or early adulthood.
Ena Arora, MD, Aleksandr Fuks, MD, Jessica Meyer, MD, Judith Chervenak, MD   +3 more
doaj   +1 more source

Bardet Biedl syndrome – report of a very rare case

National Journal of Clinical Anatomy, 2016
Bardet Biedl Syndrome is a autosomal recessive condition with a wide spectrum of clinical features. The principal manifestations of the syndrome are Post axial Polydactyly, Retinitis Pigmentosa, truncal obesity, hypogonadism & renal dysfunction.
Asha Shirahatti, Daksha Dixit, Harshavardhan Pati   +2 more
doaj   +1 more source