{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,3]],"date-time":"2026-09-03T14:18:26Z","timestamp":1788445106904,"version":"build-2803163510"},"reference-count":13,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:00:00Z","timestamp":1777593600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004775","name":"Natural Science Foundation of Gansu Province","doi-asserted-by":"publisher","award":["22JR5RA726"],"award-info":[{"award-number":["22JR5RA726"]}],"id":[{"id":"10.13039\/501100004775","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Clinical Ultrasound"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>To investigate the diagnostic clues and genetic etiology of short\u2010rib thoracic dysplasia (SRTD) in early pregnancy, we report a case of a fetus suspected of having SRTD based on ultrasound findings at 13\u2009weeks of gestation. Prenatal genetic testing revealed a pathogenic variant in the DYNC2H1 gene, and post\u2010abortion examination of the specimen along with X\u2010ray findings confirmed the diagnosis as short\u2010rib thoracic dysplasia 3 (SRTD3; OMIM #613091). Such cases are rarely reported in the early gestational period. The detection and subsequent confirmation in this case at 13\u2009weeks demonstrate that the combination of early ultrasound screening and genetic testing can enable early detection and diagnosis of SRTD. This approach provides a basis for precise prenatal assessment and holds significant clinical importance for reducing birth defects.<\/jats:p>","DOI":"10.1002\/jcu.70244","type":"journal-article","created":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T01:56:07Z","timestamp":1777686967000},"page":"1777-1780","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case of Short\u2010Rib Thoracic Dysplasia: Diagnostic Clues in Early Pregnancy and Genetic Analysis"],"prefix":"10.1002","volume":"54","author":[{"given":"Chunying","family":"Li","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center Gansu Provincial Maternity and Child Care Hospital (Gansu Provincial Central Hospital)  Lanzhou City China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaopeng","family":"Kang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Gansu Provincial Maternity and Child Care Hospital (Gansu Provincial Central Hospital)  Lanzhou City China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Tao","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Gansu Provincial Maternity and Child Care Hospital (Gansu Provincial Central Hospital)  Lanzhou City China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xingkai","family":"Yang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Gansu Provincial Maternity and Child Care Hospital (Gansu Provincial Central Hospital)  Lanzhou City China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caihong","family":"Liu","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Gansu Provincial Maternity and Child Care Hospital (Gansu Provincial Central Hospital)  Lanzhou City China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyu","family":"Song","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Gansu Provincial Maternity and Child Care Hospital (Gansu Provincial Central Hospital)  Lanzhou City China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-8886-1078","authenticated-orcid":false,"given":"Xiaojuan","family":"Lin","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Gansu Provincial Maternity and Child Care Hospital (Gansu Provincial Central Hospital)  Lanzhou City China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,5,1]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41581-019-0116-9"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.573"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2012.04.018"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.976"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.4238\/gmr.15028134"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13630-017-0051-y"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.3109\/01443615.2012.698334"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000053897"},{"issue":"2","key":"e_1_2_10_10_1","first-page":"138","article-title":"Case Report: Short Rib Polydactyly Syndrome \u2010 Type 2 (Majewski Syndrome)","volume":"20","author":"Jutur P. 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