Results 31 to 40 of about 1,183,898 (170)

A case of adrenal myelolipoma complicated with Prader‐Willi syndrome

IJU Case Reports, 2023
Introduction Prader‐Willi syndrome is a congenital disorder that occurs in one in 10 000–30 000 children and is characterized by obesity, short stature, and intellectual disability.
Toru Inoue, Masahiro Todaka, Yuichi Nakazono, Yoko Fukata, Toshitaka Shin   +4 more
doaj   +1 more source

The transition from pediatric to adult care in individuals with Prader-Willi syndrome

Endocrine Connections, 2022
Prader–Willi syndrome (PWS), the most common form of syndromic obesity, is a complex neurodevelopmental genetic disorder including obesity with hyperphagia, endocrine and metabolic disorders and also psychiatric disorders.
Christine Poitou, Anthony Holland, Charlotte Höybye, Laura C G de Graaff, Sandrine Bottius, Berit Otterlei, Maithé Tauber   +6 more
doaj   +1 more source

Baby food and bedtime: Evidence for opposite phenotypes from different genetic and epigenetic alterations in Prader-Willi and Angelman syndromes

SAGE Open Medicine, 2019
Prader–Willi and Angelman syndromes are often referred to as a sister pair of neurodevelopmental disorders, resulting from different genetic and epigenetic alterations to the same chromosomal region, 15q11-q13.
Iiro Ilmari Salminen, Bernard J Crespi, Mikael Mokkonen   +2 more
doaj   +1 more source

Do patients with Prader–Willi syndrome have favorable glucose metabolism?

Orphanet Journal of Rare Diseases, 2022
Background In recent years, more studies have observed that patients with Prader–Willi syndrome have lower insulin levels and lower insulin resistance than body mass index-matched controls, which may suggest protected glucose metabolism.
Yanjie Qian, Fangling Xia, Yiming Zuo, Mianling Zhong, Lili Yang, Yonghui Jiang, Chaochun Zou   +6 more
doaj   +1 more source

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright, Maria B. Padua, Lindsey R. Helvaty, Kim L. McBride, Gabrielle Geddes, Vidu Garg, Seema R. Lalani, Stephanie Burns Wechsler, Jennelle C. Hodge, Benjamin J. Landis, Stephanie M. Ware   +10 more
wiley   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Prise en charge psychologique d'un cas du syndrome de Prader Willi: cas d'une jeune fille marocaine

The Pan African Medical Journal, 2019
Le syndrome de Prader Willi est une maladie génétique rare qui se manifeste par l'apparition d'une hyperphagie avec un risque d'obésité morbide, des difficultés d'apprentissage et des troubles du comportement, voire des troubles psychiatriques majeurs. L'
Lamyaa Benchikhi, Hind Nafiaa, Abdelaaziz Zaroual, Abderrazzak Ouanass   +3 more
doaj   +1 more source

Atypical presentation of Prader-Willi syndrome with Klinefelter (XXY karytype) and craniosynostosis Síndrome de Prader-Willi em paciente com Klinefelter (cariótipo XXY) e craniossinostose

Arquivos de Neuro-Psiquiatria, 2006
Prader-Willi syndrome is a mental retardation genetic disorder also characterized by hypogonadism, hyperphagia and obesity. We report on a four-years-old boy, born to consanguineous parents, with uncommon co-occurrence of Prader-Willi syndrome, 47,XXY ...
Daniel R. Carvalho, Clovis S. Trad, João M. Pina-Neto   +2 more
doaj   +1 more source

Dermatilomanía y síndrome de Prader-Willi [PDF]

, 2019
We report the case of an 18 year old woman with Prader-Willi syndrome who had mental health and behavioral problems, such as skin-picking and compulsive behaviors, also obesity, hypogonadism, short stature, small hands, and “almondshaped” eyes. She had a
Concha, Carolina, García, Lucy
core  

Influence of Molecular Genetic Classes on Behavior in Prader‐Willi Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A wide range of behavioral phenotypes has been described in PWS patients including autism spectrum disorder (ASD). The prevalence of behavioral disorders was studied in 292 participants over 3 years with genetically confirmed PWS (N = 164 females and N = 128 males) with deletion (N = 182) and mUPD (maternal uniparental disomy) (N = 99).
Ranim Mahmoud, Merlin G. Butler, Wai Park, Jennifer L. Miller, Daniel J. Driscoll, June‐Anne Gold, Virginia Kimonis   +6 more
wiley   +1 more source