Results 51 to 60 of about 15,704 (225)
Orphanet Journal of Rare Diseases, 2022 Background Prader-Willi syndrome (PWS), is a genetically determined neurodevelopmental disorder, associated with intellectual disabilities and a high incidence of obesity, diabetes mellitus, and respiratory disorders.
J. E. Whittington +4 more
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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 +4 more
doaj +1 more source
Prader—Willi syndrome and the hypothalamus [PDF]
Acta Paediatrica, 1997 Dysfunction of various hypothalamic systems may be the basis of a number of symptoms in Prader—Willi syndrome. The often abnormal position of the baby in the uterus at the onset of labour, the high percentage of infants with asphyxia and the high proportion of children born prematurely or post‐maturely may all be related to abnormal fetal hypothalamic ...
openaire +3 more sources
The importance of early recognition of Prader-Willi syndrome [PDF]
Due to its rare nature and subtle dysmorphisms, Prader-Willi syndrome can be challenging to recognize and diagnose in the neonatal period. Feeding difficulties and hypotonia ('floppy infant') are the most striking characteristics.
Burgers, Melanie +5 more
core +8 more sources
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 +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 +6 more
doaj +1 more source
Clinical Case A clinical case of Prader–Willi syndrome [PDF]
Relevance. Prader–Willi syndrome (SPW) is a rare genetic disease associated with a predominant legion of the nervous system with subsequent involvement of other systems.
Tatiana A. Minenkova +5 more
core +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Prader-Willi syndrome: are there population differences? [PDF]
, 1982 A 15 1/2-year-old black female with features consistent with the Prader-Willi syndrome is reported. This is the second case report of a black individual and the first case of a black female with the Prader-Willi syndrome.
Butler, Merlin G. +2 more
core +2 more sources
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source