{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T10:39:24Z","timestamp":1764239964385,"version":"3.46.0"},"reference-count":35,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T00:00:00Z","timestamp":1764201600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>This case report describes a fetus with achondrogenesis type II, a severe and lethal type II collagen disorder, presenting with micrognathia and hydrops. Prenatal evaluation with 2D\/3D ultrasound, followed by postmortem imaging and pathological examination, confirmed the diagnosis. Genetic testing revealed a heterozygous COL2A1 mutation (1703G&gt;A; Gly516Ser, exon 24). The significance of this study lies in the identification of a missense mutation in COL2A1 associated with achondrogenesis type II. This report highlights that the condition may present with hydrops and craniofacial anomalies, establishing this variant as a pathogenic mutation associated with the disorder.<\/jats:p>","DOI":"10.3390\/ijms262311472","type":"journal-article","created":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T10:25:16Z","timestamp":1764239116000},"page":"11472","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Prenatal Imaging of Micrognathia, Micromelia, and Fetal Hydrops Leading to the Diagnosis of Achondrogenesis Type II with a COL2A1 Missense Mutation"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1036-445X","authenticated-orcid":false,"given":"Yi-Cheng","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Biomedical Engineering, National Yang-Ming Chiao-Tung University, Taipei 112304, Taiwan"},{"name":"Department of Obstetrics and Gynecology, Ton Yen General Hospital, Hsinchu 302048, Taiwan"},{"name":"Taiwan IVF Group Center for Reproductive Medicine & Infertility, Hsinchu 302053, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chih-Yao","family":"Chen","sequence":"additional","affiliation":[{"name":"Dianthus MFM Center Minquan, Dianthus MFM Group, Taipei 114067, Taiwan"},{"name":"Department of Obstetrics and Gynecology, Taipei Veterans General Hospital, Taipei 112201, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guan-Yeu","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Taipei Veterans General Hospital, Taipei 112201, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ching-Hua","family":"Hsiao","sequence":"additional","affiliation":[{"name":"Department of Biomedical Engineering, National Yang-Ming Chiao-Tung University, Taipei 112304, Taiwan"},{"name":"Department of Obstetrics and Gynecology, Fuyou Branch, Taipei City Hospital, Taipei 100027, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Woei-Chyn","family":"Chu","sequence":"additional","affiliation":[{"name":"Department of Biomedical Engineering, National Yang-Ming Chiao-Tung University, Taipei 112304, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jack Yu-Jen","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Ton Yen General Hospital, Hsinchu 302048, Taiwan"},{"name":"Taiwan IVF Group Center for Reproductive Medicine & Infertility, Hsinchu 302053, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,11,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"571","DOI":"10.3109\/15513818809022316","article-title":"Arts NF. 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