Prader-Willi 综合征,新生儿,临床表现,诊断," /> Prader-Willi 综合征,新生儿,临床表现,诊断,"/> Prader-Willi syndrome, Neonates, Clinical characteristic,Diagnosis,"/> <span style="font-size:14px;line-height:2;">新生儿Prader-Willi 综合征临床诊疗</span><span style="font-size:14px;line-height:2;">思路</span><span style="font-size:14px;line-height:2;"></span>
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发育医学电子杂志  2021, Vol. 9 Issue (4): 268-274    DOI: 10.3969/j.issn.2095-5340.2021.04.006
  围产医学   论著 |新生儿 |
新生儿Prader-Willi 综合征临床诊疗思路
吴静静 包蕾 李禄全
重庆医科大学附属儿童医院新生儿诊治中心 儿科发育疾病研究教育部重点实验室 儿童发育重大疾病国家国际科技合作基地 儿科重庆市重点实验室,重庆 400014
Diagnostic profile of neonates with Prader-Willi syndrome
Wu Jingjing, Bao Lei, Li Luquan 
Department of Neonatal Diagnosis and Treatment Center, Children'sHospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development andDisorder, China International Science and Technology Cooperation Base of Child Development and Critical Disorder, Chongqing Key Laboratory of Pediatrics, Chongqing 400014, China
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摘要 【摘要】 目的  总结新生儿Prader-Willi 综合征(Prader–Willi syndrome,PWS)的临床特征,并构建其临床诊断思路,为临床早期筛选并进一步基因诊断提供帮助。 方法 收集2014 年1 月至2018 年5 月在重
庆医科大学附属儿童医院新生儿科住院并诊断为PWS 的患儿临床资料,分析患儿相关临床表现,并复
习国内有关新生儿期PWS 临床表现的报道,总结其最常见的临床表现,构建临床诊疗思路。 结果  本
院15 例患儿中剖宫产10 例(66.7%)。11 例(73.3%)为小于胎龄儿(small for gestational age,SGA)。临床表现上15 例(100%)患儿均有肌张力低下、吸吮能力差、喂养困难、反应差、少动、哭声弱。10 例有外生殖器小或发育不全:9 例男性患儿均有性腺发育不良,其中7 例有隐睾;6 例女性患儿中有1 例表现为大阴唇小。皮肤色素减低6 例(40.0%)。特殊面容1 例(6.7%)。纳入的17 篇文献中85 例新生儿PWS 临床表现依次为:肌张力低下(100%,85/85)、哭声弱(95.3%,81/85)、喂养困难(90.6%,77/85)、皮肤色素减低(78.5%,51/65)、外生殖器发育不良(72.9%,62/85)、剖宫产(71.4%,50/70)、特殊面容(67.1%,57/85)、胎动减少(37.0%,20/54)、SGA(33.3%,24/72)、低出生体重(21.2%,11/52)、羊水过多(20.3%,14/69)、早产(18.1%,15/83)。 结论 新生儿时期不明原因的肌张力低下需高度警惕PWS 可能,识别临床表现,尽早行基因 检测确诊,以便早期干预,改善预后。
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关键词:  Prader-Willi 综合征')" href="#">Prader-Willi 综合征  新生儿  临床表现  诊断    
Abstract: 【Abstract】 Objective To summarize the clinical features of neonates with Prader-Willi syndrome (PWS)and to construct its clinical diagnosis flowchart, so as to provide help for early clinical screening and further gene diagnosis. Methods The clinical data of 15 patients with PWS from January 2014 to May 2018 in the Department of Neonatology, Children's Hospital of Chongqing Medical University were collected andthe relevant clinical manifestations were analyzed. The domestic reports on the clinical manifestations of neonates  with PWS were reviewed, and the most common clinical manifestations were summarized. Then the flowchart of clinical diagnosis was constructed. Results In this analyzed 15 patients, caesarean section in 10 cases (66.7%), and the small for gestational age (SGA) in 11 cases (73.3%). The clinical characteristics in neonatal period included hypotonia, feeding difficulty, poor response, less movement and weak crying in 15 cases (100%). 10 cases had small external genitalia or hypoplasia (66.7%): 9 male neonates had gonadal dysplasia, 7 of them had cryptorchidism; and 1 female neonate showed small labia majoris. Skin pigmentation decreased in 6 cases (40.0%). Characteristic facial feature was discribed in 1 case (6.7%). 85 neonates from the 17 literatures were included. The phenotypes were discribed as the follows: hypotonia (100%, 85/85), weak crying (95.3%, 81/85), feeding difficulty (90.6%, 77/85), skin hypopigmentation (78.5%, 51/65), hypogonadism (72.9%, 62/85), cesarean (71.4%, 50/70), characteristic facial features (67.1%, 57/85), decreased fetal movement (37.0%, 20/54), SGA (33.3%, 24/72), low birth weight (21.2%,11/52), polyhydramnios (20.3%,14/69), and premature birth (18.1%, 15/83). Conclusion Neonates with hypotonia which was unexplained should be concerned the possibility of PWS and the clinical manifestations.Gene diagnosis should be performed as early as possible, so as to intervene early and improve the prognosis of these patients.
Key words:  Prader-Willi syndrome')" href="#">Prader-Willi syndrome    Neonates    Clinical characteristic    Diagnosis
收稿日期:  2020-06-14                     发布日期:  2021-07-29     
基金资助: 重庆市科技委员会技术创新与应用示范项目(cstc2018jscx-msyb-X0027)
通讯作者:  包蕾    E-mail:  Email:chcmubl@163.com
引用本文:    
吴静静 包蕾 李禄全. 新生儿Prader-Willi 综合征临床诊疗思路[J]. 发育医学电子杂志, 2021, 9(4): 268-274.
Wu Jingjing, Bao Lei, Li Luquan . Diagnostic profile of neonates with Prader-Willi syndrome. Journal of Developmental Medicine(Electronic Version), 2021, 9(4): 268-274.
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