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

摘要： 目的    探讨Prader-Willi综合征（PWS）患儿基因型和临床表型之间的关系。方法    回顾性分析郑州大学附属儿童医院2013年1月至2023年12月诊治的125例PWS患儿的临床资料。结果    125例中男性67例，女性58例。诊断年龄在1岁之前者15例（12.00%），1岁之后者110例（88.00%）。其中早产16例（12.80%），足月产109例（87.20%）。PWS患儿主要表现：婴儿期肌张力低下124例（99.20%）、智力发育落后123例（98.40%）、婴儿期喂养困难119例（95.20%）、男童隐睾63例（94.03%）、身材矮小105例（84.00%）、胎儿期胎动少102例（81.60%）、语言不清晰101例（80.80%）、皮肤色素减退92例（73.60%）、贪食肥胖78例（62.40%）、小手或小脚77例（61.60%）、强迫行为69例（55.20%）、特殊面容61例（48.80%）、精神心理障碍57例（45.60%）、自残行为51例（40.80%）和睡眠呼吸暂停34例（27.20%）。PWS基因型和临床表型存在部分相关性，父源性缺失（PD）患儿在特殊面容、皮肤色素减退和语言不清晰等方面比母源单亲二倍体（mUPD）有更高的发生率，且差异有统计学意义。mUPD患儿在睡眠异常、强迫行为、精神心理障碍和自残行为等方面比PD有更高的发生率，差异有统计学意义。结论    PWS患者早期诊断率低，临床表现多样，不同基因型患儿的临床表型存在差异。

关键词: Prader-Willi综合征, 临床特征, 基因