Although mouse models of Prader–Willi syndrome (PWS) suggest that hypoglycemia may be part of this syndrome, review of the literature shows little evidence that it is an issue in humans with PWS. Both adrenal and growth hormone deficiency can be seen in PWS, and both of these hormone ...
Sotos syndromeaCGHA patient with atypical phenotypes of Prader–Willi syndrome (PWS) was subjected to investigate genomic copy numbers by microarray-based comparative genomic hybridization analysis. Severe developmental delay, relative macrocephaly, protruding forehead, cardiac anomalies, and hydronephrosis were...
Willi syndromeSotos syndromeA patient with atypical phenotypes of Prader–Willi syndrome (PWS) was subjected to investigate genomic copy numbers by microarray-based comparative genomic hybridization analysis. Severe developmental delay, relative macrocephaly, protruding forehead, cardiac anomalies, and ...
Prader–Willi syndrome; weight gain; diet; exercise; hormonal therapy; bariatric surgery 1. Introduction Prader–Willi Syndrome (PWS) is a complex genetic disorder that occurs in about 1 in 15.000 subjects. PWS is caused by the absence of paternally expressed imprinted genes at 15q11.2-q13 ...
Prader–Willi syndrome; epigenetic; testosterone; estradiol; prenatal; D2:D4; social responsiveness; social functioning; functionality; function 1. Introduction Prader–Willi syndrome (PWS) is both a genetic and epigenetic disorder, mapping the imprinted chromosomal domain of 15q11.2–13.3. This ...
An obese child with Prader–Willi syndrome (PWS) was selected as the representative case in this study. This child’s body weight reduced from 140 to 114 kg after 105 days’ dietary intervention and both the plasma glucose and lipid homeostasis improved to within the normal ranges [36]. Two...
Prader–Willi syndrome (PWS) is a rare, genetic, multisymptomatic, neurodevelopmental disease commonly associated with sleep alterations, including sleep-disordered breathing and central disorders of hypersomnolence. Excessive daytime sleepiness represents the main manifestation that should be addressed by el...