{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:47:03Z","timestamp":1786978023364,"version":"build-2736575974"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,5,25]],"date-time":"2023-05-25T00:00:00Z","timestamp":1684972800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J Gynecology &amp; Obste"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Treacher Collins syndrome (TCS) should be suspected if the triad of micrognathia, glossoptosis, and posterior cleft palate, and deformed external ears are observed during prenatal ultrasonography, excepting Pierre Robin sequence. Visualization of the fetal zygomatic bone and down\u2010slanting palpebral fissures are conducive to differentiation. Molecular genetics testing can establish a definite diagnosis. A 28\u2010year\u2010old pregnant Chinese woman was referred for systematic ultrasound examination at 24\u2009weeks. Two\u2010dimensional and three\u2010dimensional ultrasound showed polyhydramnios, micrognathia, absence of nasal bone, microtia, secondary cleft palate, mandibular hypoplasia, glossoptosis, and normal limbs and vertebrae. Pierre Robin sequence was misdiagnosed with the triad of micrognathia, glossoptosis, and posterior cleft palate. Final diagnosis of TCS was confirmed by whole\u2010exome sequencing. Visualization of the fetal zygomatic bone and down\u2010slanting palpebral fissures can facilitate a differential diagnosis between Pierre Robin sequence and TCS, with the triad of micrognathia, glossoptosis, and posterior cleft palate.<\/jats:p>","DOI":"10.1002\/ijgo.14881","type":"journal-article","created":{"date-parts":[[2023,5,26]],"date-time":"2023-05-26T02:30:21Z","timestamp":1685068221000},"page":"778-781","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Prenatal diagnosis of Treacher Collins syndrome: A case report and literature review"],"prefix":"10.1002","volume":"163","author":[{"given":"Yin","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Ultrasound, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences) Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yonghua","family":"Wang","sequence":"additional","affiliation":[{"name":"Center of Prenatal Diagnosis, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences) Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengxia","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences) Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Le","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences) Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suqing","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences) Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanying","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences) Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,5,25]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1313"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bjoms.2012.09.008"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2014.03.006"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.29"},{"key":"e_1_2_8_6_1","first-page":"333","article-title":"The research progress of Treacher Collins syndrome","volume":"30","author":"Wang P","year":"2016","journal-title":"Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970040307"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jum.15325"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5162"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2019.05.024"}],"container-title":["International Journal of Gynecology &amp; Obstetrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ijgo.14881","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,31]],"date-time":"2024-07-31T03:27:52Z","timestamp":1722396472000},"score":1,"resource":{"primary":{"URL":"https:\/\/obgyn.onlinelibrary.wiley.com\/doi\/10.1002\/ijgo.14881"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,25]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1002\/ijgo.14881"],"URL":"https:\/\/doi.org\/10.1002\/ijgo.14881","archive":["Portico"],"relation":{},"ISSN":["0020-7292","1879-3479"],"issn-type":[{"value":"0020-7292","type":"print"},{"value":"1879-3479","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,25]]},"assertion":[{"value":"2023-01-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-06","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-05-25","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}