ESPE Abstracts

Prader–Willi Syndrome (PWS [MIM 176270]) is a rare neurogenetic disorder mapping to the chromosome 15q11-q13 domain, which results from the genetic and epigenetic function deficiency of genomic imprinting of paternal alleles. It is characterized by neonatal hypotonia with following childhood obesity, hyperphagia, developmental delay and short stature, hypogonadism, cognitive impairment, and behavioral problems. PWS is generally sporadic that occurs in about 1 in 10 000 to...

Objective: Prader-Willi syndrome (PWS) is a rare genetic imprinting disorder resulting from the expression loss of genes on the paternally inherited chromosome 15q11-13. Early-onset life-thriving obesity represents the PWS clinical hallmarks. The noncoding RNA gene SNORD116 within the minimal PWS genetic lesion plays a critical role in the pathogenesis of the syndrome. Despite advancements in understanding the genetic basis for PWS, the pathophysiology of obes...

Background: Prader-Willi syndrome (PWS) is a rare genetic disease often associated with bone problems, mainly scoliosis and hip dysplasia (HD). This study aim ed to analyze the clinical characteristics of orthopedic deformities in patients with PWS.Methods: A retrospective study was conducted on 175 patients up to March 2023. The Cobb angle(CA) of the spine, the alpha angle of the hip joint, and the acetabular index (AI)...