Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases
Aim. 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. Methods. Two cases of fetal achondrogenesis type II were analyzed retros...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Obstetrics and Gynecology |
| Online Access: | http://dx.doi.org/10.1155/2019/7981767 |
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| _version_ | 1832549906072469504 |
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| author | Wenbo Wang Qichang Wu Li Sun Xiaohong Zhong Yasong Xu Xiaojian Xie Zhiying Su |
| author_facet | Wenbo Wang Qichang Wu Li Sun Xiaohong Zhong Yasong Xu Xiaojian Xie Zhiying Su |
| author_sort | Wenbo Wang |
| collection | DOAJ |
| description | Aim. 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. Methods. Two cases of fetal achondrogenesis type II were analyzed retrospectively using prenatal ultrasound evaluation, postnatal radiographic diagnosis, and molecular genetic testing of COL2A1. Results. A causative mutation in the COL2A1 gene was found in both patients. Combined with postnatal radiographic examination, the final diagnosis of achondrogenesis type II was made. Conclusion. Our findings emphasize the importance of a multidisciplinary assessment for the definitive diagnosis of achondrogenesis type II, which is paramount for proper genetic counseling. |
| format | Article |
| id | doaj-art-07568d5eaf7642809d3ec0fd45c84d53 |
| institution | Kabale University |
| issn | 2090-6684 2090-6692 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Obstetrics and Gynecology |
| spelling | doaj-art-07568d5eaf7642809d3ec0fd45c84d532025-02-03T06:08:09ZengWileyCase Reports in Obstetrics and Gynecology2090-66842090-66922019-01-01201910.1155/2019/79817677981767Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 CasesWenbo Wang0Qichang Wu1Li Sun2Xiaohong Zhong3Yasong Xu4Xiaojian Xie5Zhiying Su6Prenatal Diagnosis Center, Women and Children’s Hospital, School of Medicine, Xiamen University, Xiamen, Fujian Province 361000, ChinaPrenatal Diagnosis Center, Women and Children’s Hospital, School of Medicine, Xiamen University, Xiamen, Fujian Province 361000, ChinaPrenatal Diagnosis Center, Women and Children’s Hospital, School of Medicine, Xiamen University, Xiamen, Fujian Province 361000, ChinaPrenatal Diagnosis Center, Women and Children’s Hospital, School of Medicine, Xiamen University, Xiamen, Fujian Province 361000, ChinaPrenatal Diagnosis Center, Women and Children’s Hospital, School of Medicine, Xiamen University, Xiamen, Fujian Province 361000, ChinaPrenatal Diagnosis Center, Women and Children’s Hospital, School of Medicine, Xiamen University, Xiamen, Fujian Province 361000, ChinaPrenatal Diagnosis Center, Women and Children’s Hospital, School of Medicine, Xiamen University, Xiamen, Fujian Province 361000, ChinaAim. 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. Methods. Two cases of fetal achondrogenesis type II were analyzed retrospectively using prenatal ultrasound evaluation, postnatal radiographic diagnosis, and molecular genetic testing of COL2A1. Results. A causative mutation in the COL2A1 gene was found in both patients. Combined with postnatal radiographic examination, the final diagnosis of achondrogenesis type II was made. Conclusion. Our findings emphasize the importance of a multidisciplinary assessment for the definitive diagnosis of achondrogenesis type II, which is paramount for proper genetic counseling.http://dx.doi.org/10.1155/2019/7981767 |
| spellingShingle | Wenbo Wang Qichang Wu Li Sun Xiaohong Zhong Yasong Xu Xiaojian Xie Zhiying Su Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases Case Reports in Obstetrics and Gynecology |
| title | Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases |
| title_full | Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases |
| title_fullStr | Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases |
| title_full_unstemmed | Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases |
| title_short | Diagnosis of Prenatal-Onset Achondrogenesis Type II by a Multidisciplinary Assessment: A Retrospective Study of 2 Cases |
| title_sort | diagnosis of prenatal onset achondrogenesis type ii by a multidisciplinary assessment a retrospective study of 2 cases |
| url | http://dx.doi.org/10.1155/2019/7981767 |
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