Results 31 to 40 of about 24,669 (243)

Central precocious puberty in Prader-Willi syndrome: a narrative review

Frontiers in Endocrinology, 2023
Prader-Willi syndrome (PWS, OMIM176270) is a rare genetic disorder with recognizable dysmorphic features and multisystemic consequences such as endocrine, neurocognitive and metabolic ones.
Delia-Maria Nicoară, Alexandra-Cristina Scutca, Alexandra-Cristina Scutca, Niculina Mang, Iulius Juganaru, Iulius Juganaru, Iulius Juganaru, Andrei-Ioan Munteanu, Andrei-Ioan Munteanu, Luiza Vitan, Otilia Mărginean, Otilia Mărginean, Otilia Mărginean   +12 more
doaj   +1 more source

Prader–Willi Syndrome and Hypogonadism: A Review Article

International Journal of Molecular Sciences, 2021
Prader-Labhart-Willi syndrome (PWS) is a rare genetic disorder characterized by intellectual disability, behavioural problems, hypothalamic dysfunction and specific dysmorphisms.
C. Noordam, C. Höybye, U. Eiholzer
semanticscholar   +1 more source

A 14-year-old male patient with diagnosis of Prader–Willi syndrome in Ethiopia: a case report

Journal of Medical Case Reports, 2023
Background Prader–Willi syndrome is a complex multisystem disorder due to the absent expression of paternally active genes in the Prader–Willi syndrome-critical region on chromosome 15 (15q11.2-q13).
Kibret Enyew Belay, Beza Leulseged Ayalew, Melaku Taye Amogne, Theodros Aberra Alemneh, Tedla Kebede Geletew   +4 more
doaj   +1 more source

Cognitive and behavioral heterogeneity in genetic syndromes

Jornal de Pediatria, 2014
Objective: this study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds.
Luiz F.L. Pegoraro, Carlos E. Steiner, Eloisa H.R.V. Celeri, Claudio E.M. Banzato, Paulo Dalgalarrondo   +4 more
doaj   +5 more sources

Impact of transitional care on endocrine and anthropometric parameters in Prader–Willi syndrome

Endocrine Connections, 2018
Context: The transition of patients with Prader–Willi syndrome (PWS) to adult life for medical care is challenging because of multiple comorbidities, including hormone deficiencies, obesity and cognitive and behavioral disabilities. Objective: To assess
A C Paepegaey, M Coupaye, A Jaziri, F Ménesguen, B Dubern, M Polak, J M Oppert, M Tauber, G Pinto, C Poitou   +9 more
doaj   +1 more source

Dental Management of Prader-Willi Syndrome in a 7-year-old Girl: A Rare Case Report [PDF]

Journal of South Asian Association of Pediatric Dentistry, 2022
Prader-Willi syndrome (PWS) is a rare genetic disorder characterized by a lack of expression of paternal genes located on chromosome 15q11-q13. Prader-Willi syndrome is characterized by hypothalamic dysfunction.
Mallayya C Hiremath, Srinath Krishnappa, Sahana Srinath, Raja Jayadeva Nayak, Aarcha S Kumar   +4 more
doaj   +1 more source

Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings

Journal of Endocrinological Investigation, 2015
IntroductionPrader-Willi syndrome (PWS) is a multisystemic complex genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. There are three main genetic subtypes in PWS: paternal 15q11-q13 deletion
M. Angulo, M. Butler, M. Cataletto
semanticscholar   +1 more source

Baroreflex Dysfunction in Prader Willi Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2016
Prader-Willi syndrome is a classical hypothalamic insufficiency disorder. This syndrome is often associated with cardiovascular morbidity and mortality - which could probably be attributed to autonomic dysfunction.
Manpreet Kaur, Shival Srivastav, Ashok Kumar Jaryal, Kishore Kumar Deepak   +3 more
doaj   +1 more source

An Observational Study on Cephalometric Characteristics and Patterns Associated with the Prader–Willi Syndrome: A Structural Equation Modelling and Network Approach

Applied Sciences, 2021
Examining specific patterns of major cranio-facial alterations through cephalometric measurements in order to improve the Prader–Willi (PWS) syndrome diagnostic poses a major challenge of identifying interlinkages between numerous credentials.
Alin Viorel Istodor, Laura-Cristina Rusu, Gratiela Georgiana Noja, Alexandra Roi, Ciprian Roi, Emanuel Bratu, Georgiana Moise, Maria Puiu, Simona Sorina Farcas, Nicoleta Ioana Andreescu   +9 more
doaj   +1 more source

A multidisciplinary approach to the clinical management of Prader–Willi syndrome

Molecular Genetics & Genomic Medicine, 2019
Prader–Willi syndrome (PWS) is a complex neuroendocrine disorder affecting approximately 1/15,000–1/30,000 people. Unmet medical needs of individuals with PWS make it a rare disease that models the importance of multidisciplinary approaches to care with ...
J. Duis, P. J. van Wattum, A. Scheimann, P. Salehi, E. Brokamp, L. Fairbrother, Anna Childers, A. R. Shelton, Nathan C. Bingham, Ashley H. Shoemaker, Jennifer L Miller   +10 more
semanticscholar   +1 more source