{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:27:47Z","timestamp":1760059667136,"version":"build-2065373602"},"reference-count":51,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2025,6,30]],"date-time":"2025-06-30T00:00:00Z","timestamp":1751241600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"ShenZhen Medical Research Fund","award":["C2401032","JCYJ20210324114612034","SZSM202311022","LCYSSQ20220823091402005","RD\/2023\/2.24"],"award-info":[{"award-number":["C2401032","JCYJ20210324114612034","SZSM202311022","LCYSSQ20220823091402005","RD\/2023\/2.24"]}]},{"name":"Shenzhen Innovation and Technology Commission Foundation","award":["C2401032","JCYJ20210324114612034","SZSM202311022","LCYSSQ20220823091402005","RD\/2023\/2.24"],"award-info":[{"award-number":["C2401032","JCYJ20210324114612034","SZSM202311022","LCYSSQ20220823091402005","RD\/2023\/2.24"]}]},{"name":"Sanming project of Medicine in Shenzhen","award":["C2401032","JCYJ20210324114612034","SZSM202311022","LCYSSQ20220823091402005","RD\/2023\/2.24"],"award-info":[{"award-number":["C2401032","JCYJ20210324114612034","SZSM202311022","LCYSSQ20220823091402005","RD\/2023\/2.24"]}]},{"name":"Shenzhen Clinical Research Center for Rare Diseases","award":["C2401032","JCYJ20210324114612034","SZSM202311022","LCYSSQ20220823091402005","RD\/2023\/2.24"],"award-info":[{"award-number":["C2401032","JCYJ20210324114612034","SZSM202311022","LCYSSQ20220823091402005","RD\/2023\/2.24"]}]},{"name":"Hong Kong Metropolitan University Research Grant","award":["C2401032","JCYJ20210324114612034","SZSM202311022","LCYSSQ20220823091402005","RD\/2023\/2.24"],"award-info":[{"award-number":["C2401032","JCYJ20210324114612034","SZSM202311022","LCYSSQ20220823091402005","RD\/2023\/2.24"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background and Clinical Significance: Prader\u2013Willi syndrome (PWS) is a rare genetic disease caused by imprinted gene dysfunction, typically involving deletion of the chromosome 15q11.2-q13 region, balanced translocation, or related gene mutations in this region. PWS presents with complex and varied clinical manifestations. Abnormalities can be observed from the fetal stage and change with age, resulting in growth, developmental, and metabolic issues throughout different life stages. Case Presentation: We report the prenatal characteristics observed from the second to third trimester of pregnancy in a neonate with PWS. Prenatal ultrasound findings included a single umbilical artery, poor abdominal circumference growth from 26 weeks, normal head circumference and femur length growth, increased amniotic fluid volume after 30 weeks, undescended fetal testicles in the third trimester, small kidneys, and reduced fetal movement. The male infant was born at 38 weeks of gestation with a birth weight of 2580 g. He had a weak cry; severe hypotonia; small eyelid clefts; bilateral cryptorchidism; low responsiveness to medical procedures such as blood drawing; and poor sucking, necessitating tube feeding. Blood methylation-specific multiple ligation-dependent probe amplification (MS-MLPA) showed paternal deletion PWS. Notably, this case revealed two previously unreported prenatal features in PWS: a single umbilical artery and small kidneys. Conclusions: Through literature review and our case presentation, we suggest that a combination of specific sonographic features, including these newly identified markers, may aid clinicians in the early diagnosis of PWS.<\/jats:p>","DOI":"10.3390\/diagnostics15131666","type":"journal-article","created":{"date-parts":[[2025,6,30]],"date-time":"2025-06-30T05:00:37Z","timestamp":1751259637000},"page":"1666","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Phenotype in a Neonate with Prader\u2013Willi Syndrome and Literature Review"],"prefix":"10.3390","volume":"15","author":[{"given":"Libing","family":"Luo","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518053, China"},{"name":"Shenzhen Clinical Research Center for Rare Diseases, Shenzhen 518053, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary Hoi Yin","family":"Tang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518053, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9033-3471","authenticated-orcid":false,"given":"Shengmou","family":"Lin","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518053, China"},{"name":"Shenzhen Clinical Research Center for Rare Diseases, Shenzhen 518053, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7379-003X","authenticated-orcid":false,"given":"Anita Sik-Yau","family":"Kan","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Queen Mary Hospital, The University of Hong Kong, Hong Kong 999077, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cindy Ka Yee","family":"Cheung","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518053, China"},{"name":"Shenzhen Clinical Research Center for Rare Diseases, Shenzhen 518053, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoying","family":"Dai","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518053, China"},{"name":"Shenzhen Clinical Research Center for Rare Diseases, Shenzhen 518053, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ting","family":"Zeng","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518053, China"},{"name":"Shenzhen Clinical Research Center for Rare Diseases, Shenzhen 518053, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanyan","family":"Li","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518053, China"},{"name":"Shenzhen Clinical Research Center for Rare Diseases, Shenzhen 518053, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lilu","family":"Nong","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518053, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haibo","family":"Huang","sequence":"additional","affiliation":[{"name":"Neonatal Intensive Care Unit, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518053, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunchun","family":"Chen","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Centre, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518053, China"},{"name":"Shenzhen Clinical Research Center for Rare Diseases, Shenzhen 518053, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, The University of Hong Kong-Shenzhen Hospital, Shenzhen 518053, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5272-0005","authenticated-orcid":false,"given":"Kelvin Yuen Kwong","family":"Chan","sequence":"additional","affiliation":[{"name":"School of Nursing and Health Sciences, Hong Kong Metropolitan University, Hong Kong 999077, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,6,30]]},"reference":[{"key":"ref_1","first-page":"1260","article-title":"Ein syndrom von adipositas, kleinwuchs, kryptorchismus und oligophrenie nach myatonieartigem zustand im neugeborenenalter","volume":"86","author":"Prader","year":"1956","journal-title":"Schweiz. 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