关键词: Prader-Willi综合征, 临床特征, 基因

Abstract: Objective　To investigate the relationship between genotype and clinical phenotype in patients with Prader-Willi syndrome. Methods　The clinical data of 125 patients with PWS treated in Children's Hospital Affiliated to Zhengzhou University from January 2013 to December 2023 were retrospectively analyzed. Results　Of 125 PWS patients， 67 were male and 58 were female. Fifteen cases were（12.00%） diagnosed before the age of 1 year， and 110 cases（88.00%） were diagnosed after the age of 1 year. There were 16 preterm births （12.80%） and 109 full-term births （87.20%）. Main manifestations of PWS patients included：124 cases（99.20%） of hypotonia in infancy，123 cases （98.40%） of backward mental development， 119 cases（95.20%） of feeding difficulties in infancy， 63 cases （94.03%） of cryptorchidism in boys， 105 cases （84.00%） of short stature， 102 cases （81.6%） of low fetal movement，101 cases （80.80%） of indistinct speech，92 （73.60%） cases of hypopigmentation in skin， 78 cases （62.40%）of gluttonism and obesity，77 cases （61.60%） of small hands or feet，69 cases （55.20%） of compulsive behavior， 61 cases （48.80%） of special face， 57 cases （45.60%） of mental disorders， 51 cases（40.80%） of self-harm behavior and 34 cases （27.20%） of sleep apnea. There was a partial correlation between genotype and clinical phenotype in PWS， paternal deletion （PD） patients had a higher incidence of special facial features， hypopigmentation of skin， and indistinct speech than maternal uniparental diploid （mUPD）， and there was a statistical difference. The mUPD patients had a higher incidence of sleep apnea， compulsive behavior， psychological disorders and self-harm behavior than PD patients， and there was a statistical difference. Conclusion　The early diagn-osis rate of PWS patients is low, the clinical manif-estations are diverse, and the clinical phenotypes of patients with different genotypes were different.

Key words: Prader-Willi syndrome, clinical featu-res, genes