{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:36:47Z","timestamp":1747190207514,"version":"3.40.5"},"reference-count":13,"publisher":"Wiley","license":[{"start":{"date-parts":[[2019,7,17]],"date-time":"2019-07-17T00:00:00Z","timestamp":1563321600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Science and Technology of Fujian Province","award":["2015-CXB-44"],"award-info":[{"award-number":["2015-CXB-44"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Obstetrics and Gynecology"],"published-print":{"date-parts":[[2019,7,17]]},"abstract":"<jats:p><jats:italic>Aim.<\/jats:italic>Achondrogenesis type II is a rare, lethal osteochondrodysplasia with considerable phenotypic heterogeneity. We describe our experience in diagnosing prenatal-onset achondrogenesis type II by a multidisciplinary assessment.<jats:italic>Methods.<\/jats:italic>Two cases of fetal achondrogenesis type II were analyzed retrospectively using prenatal ultrasound evaluation, postnatal radiographic diagnosis, and molecular genetic testing of<jats:italic>COL2A1<\/jats:italic>.<jats:italic>Results.<\/jats:italic>A causative mutation in the<jats:italic>COL2A1<\/jats:italic>gene was found in both patients. Combined with postnatal radiographic examination, the final diagnosis of achondrogenesis type II was made.<jats:italic>Conclusion.<\/jats:italic>Our findings emphasize the importance of a multidisciplinary assessment for the definitive diagnosis of achondrogenesis type II, which is paramount for proper genetic counseling.<\/jats:p>","DOI":"10.1155\/2019\/7981767","type":"journal-article","created":{"date-parts":[[2019,7,17]],"date-time":"2019-07-17T23:31:02Z","timestamp":1563406262000},"page":"1-4","source":"Crossref","is-referenced-by-count":1,"title":["Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases"],"prefix":"10.1155","volume":"2019","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6596-8758","authenticated-orcid":true,"given":"Wenbo","family":"Wang","sequence":"first","affiliation":[{"name":"Prenatal Diagnosis Center, Women and Children\u2019s Hospital, School of Medicine, Xiamen University, Xiamen, Fujian 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