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- Title
Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2.
- Authors
Zhou, Yanhong; Chen, Guilan; Li, Fucheng; Huang, Li; Han, Jin
- Abstract
This article discusses a case of spondylocostal dysostosis (SCDO), a rare anatomical disorder characterized by multiple segmentation defects of the vertebral body. The case involved a 37-year-old East Asian woman who was diagnosed with SCDO2 during the first trimester of her pregnancy. Genetic testing revealed a novel variant in the MESP2 gene, which is associated with SCDO. The woman chose to terminate the pregnancy due to the severity of the condition. SCDO is a rare disorder that affects approximately 1 in 200,000 people worldwide, and MESP2 mutations account for about 20% of cases. Infants born with SCDO2 often have a poor prognosis, with a high mortality rate due to respiratory complications. The authors highlight the importance of early prenatal diagnosis and genetic testing for SCDO.
- Subjects
PRENATAL diagnosis; EARLY diagnosis; EAST Asians; MEDICAL genetics; POSITIVE pressure ventilation
- Publication
Congenital Anomalies, 2024, Vol 64, Issue 2, p61
- ISSN
0914-3505
- Publication type
Article
- DOI
10.1111/cga.12554