1. EP06.54: Prenatal diagnosis of Andersen‐Tawil syndrome: a case report.
- Author
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Segurado, M. Cabrero, Nava, A.M. Cubo, Martín, M. Rodríguez, Alarcón, V., Goenaga, F.J., Esquilas, M. Martín, Cajas, M., and Rodríguez, T. Costas
- Subjects
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TERATOGENIC agents , *FETAL development , *SHORT stature , *GENETIC counseling , *PHENOTYPIC plasticity - Abstract
This article discusses a case report of prenatal diagnosis of Andersen-Tawil syndrome, a condition characterized by muscle weakness, arrhythmias, and physical abnormalities. Limb defects, such as short stature and limb deformities, are common in this syndrome. The article emphasizes the importance of genetic counseling and genetic studies for accurate diagnosis and appropriate management. The authors provide a detailed description of the case and highlight the need for further research and understanding of this condition. [Extracted from the article]
- Published
- 2024
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