Diagnosis of thanatophoric dysplasia using clinical exome screening

Česká verzia

Authors: M. Holub ¹; M. Sekowská ¹; D. Smetanová ¹; M. Koudová ¹; K. Sobolová ¹; A. Šinská ² ; Hynek Heřman ³
Authors place of work: Centrum fetální medicíny a lékařské genetiky, GENNET, Praha ¹; Porodnicko-gynekologická klinika LF UP a FN Olomouc ²; Ústav pro péči o matku a dítě, Praha ³
Published in the journal: Ceska Gynekol 2023; 88(5): 376-379
Category: Case Report
doi: https://doi.org/10.48095/cccg2023376

Summary

Bone dysplasias are a broad, heterogeneous group of diseases. Thanatophoric dysplasia is a rare bone dysplasia, but it is the most common lethal skeletal dysplasias. The major role in diagnostics plays a high-quality ultrasound examination in the 2nd trimester and the latest methods of genetic testing, including clinical exome testing. Knowing the correct diagnosis is crucial for the future of the fetus and the couple.

Keywords:

skletal dysplasia – whole exome – thanaphoric dysplasia

Zdroje

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